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GeneWell
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DNA test report
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Person Tested
Sample Code - Case Number
Reporting Date - 01/11/2018
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Introduction

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GeneWell test is addressed to everyone who considers
health and wellness to be essential and aspires to
become more aware of their personal health risks.

EPTherefore, the GeneWell test is an excellent choice,

designed to include valuable information on your genes
in terms of different medical conditions.

In the current report you can find thorough knowledge on

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your personal risks in order to make your everyday
choices and to change health habits if needed.
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Before looking at your results

Our risk assessment system is based on the latest Information table. The final page of this report includes a
scientific and medical knowledge available in the most Glossary.

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respected scientific and medical journals. You can learn
Your Risk is the probability of your developing a condition
about your health risks and medical conditions, and
at some point during your lifetime. The risk calculation
receive health recommendations in different sections of

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takes into account the examined genetic markers and the
the report.
average lifetime risk for your gender.
Right after this instruction you can see Your Personal Diet

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The Average Risk is calculated based on the data
and Health Recommendations (if questionnaire is filled),
collected from individuals of European ancestry. You can
which are followed by a Summary table showing the
compare yourself with the average population risk shown
correlation of your disease risks to the European ancestry
in the second chart.
population’s average risks.

Your Test Results chapter contains a more detailed

description of the results along with disease risk charts
and ways on how to reduce the disease risk.
EP Please keep in mind that the risk calculation does not
cover other than genetic factors. Environmental factors
such as smoking, diet, stress, and physical activity play an
important role in the development of tested conditions. In
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The following chapter, Overview of the Diseases, gives a case your risk is low it does not guarantee that you will
short description of tested diseases and conditions. not have the disease, or in case of high risk you may
never develop the disease in your lifetime.
If you would like to learn about your individual detected
genetic markers, this can be done in the Genetic Markers
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Disclaimer
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The genetic susceptibility to complex diseases or conditions is determined as the consequence of the joint effects of many
genes, often interacting among themselves and with the environment. Therefore, when assessing disease risk, genetic
information is but one of the factors in developing the disease; environmental and lifestyle effects also play an important role.
The total risk for developing the disease cannot be solely based on the assessment of the genetic testing results. For most
conditions or diseases, the genes we know about and which are analyzed in this test are only responsible for a small fraction of
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the risk. Increased risk for developing the disease does not necessarily mean getting the disease, as does the opposite - the
disease may nevertheless be present in low-risk patients if environmental factors or other currently unknown risk factors
decrease or increase the probability of getting the disease. Risk evaluation takes into account the risk in the general population,
which does not mean a one-to-one risk for every single member of the population.

In the interpretation of the genetic test, it should be taken into consideration that current knowledge on the genetics of the disease
or pathogenic disorder, or on the interactions of various genes, may be incomplete. The current interpretation of the genetic test
may be subject to change in the future due to the publication of new scientific studies. The personal diet and health
recommendations in the current interpretation are based on the data submitted in the questionnaire, and any inaccurate or missing
information may result in a misleading interpretation. This report is provided to you for informational and educational purposes
only, and does not replace a visit to a physician, nor does it replace the advice or services of a physician.

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Summary

Disease name Risk Level Your risk % Average risk % Genetic risk

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Alzheimer disease higher 38 20 1.9

Atrial fibrillation higher 75 23 3.3

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Basal cell carcinoma lower 21 23 0.9

Bladder cancer higher 2.1 1.2 1.7

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Breast cancer hihger
higher 90 13 2.2
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Celiac disease

Colorectal cancer

Coronary artery disease

Exfoliating glaucoma
higher

hihger

higher

lower
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78

1.5
1

4.9

24

29
5.5

2.8

3.2

0.05
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Folate increased

Gallstone disease lower 21 27 0.79

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Gastric cancer average 0.6 0.57 1

Graves' disease hihger 8 1.2 7

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Intracranial aneurysm lower 6.3 7 0.9

Lactose intolerance intolerant

Lung cancer lower 5.8 6.7 0.86

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Male pattern baldness lower 13 38 0.35

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 Disease name Risk Level Your risk % Average risk % Genetic risk

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Melanoma higher 11 1.9 5.8

Migraine with aura average 48 43 1.1

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Multiple sclerosis higher 0.29 0.06 4.8

Obesity lower 8.9 38 0.23

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Osteoporosis higher 62 40 1.6

Peripheral arterial disease

Primary open angle glaucoma

Prostate cancer

Psoriasis
higher

higher

higher

lower
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3.5

1.5
15

2.1

2.5
1.2

1.7

1.8

0.58
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Rheumatoid arthritis higher 5.4 3.6 1.5

Sugar consumption higher

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Systemic lupus erythematosus higher 6.9 0.91 7.5

Type 1 diabetes lower 0.13 0.59 0.22

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Type 2 diabetes lower 7 39 0.18

Venous thromboembolism higher 90 5 35

Vitamin B12 lower

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Vitamin B6 increased

Vitamin D moderately higher

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Your test results
AUTOIMMUNE DISEASES

Psoriasis The analysis of genetic markers showed that your personal risk of developing psoriasis is

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0.6 times lower than the average risk in population. Even though your genetic risk is low,
you are advised to:

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Your risk: • Avoid triggers that can lead to the disease, such as stress, smoking and obesity
1.5%
Average risk:

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2.5%

Rheumatoid
Arthritis (RA)

Your risk:

5.4%
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The analysis of genetic markers showed that your personal risk of developing RA is 1.5
times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

• Exercise regularly most days of the week

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• Maintain a healthy weight level (BMI under 25)
Average risk:
3.6% • Avoid smoking
• Manage your stress
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• Have regular physical check-ups

Systemic Lupus The analysis of genetic markers showed that your personal risk of developing SLE is 7.5
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Erythematosus
times higher than the average risk in population. To reduce the risk, you are strongly
(SLE)
recommended to:

Your risk:
• Avoid triggers that can lead to the disease, such as chemical exposure,
6.9% overexposure to ultraviolet light, infections (parvovirus, hepatitis C), and smoking
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Average risk: • Have regular physical check-ups

0.91%
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EYE DISEASES

Exfoliation Glaucoma The analysis of genetic markers showed that your personal risk of developing exfoliation

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glaucoma is 0.05 times lower than the average risk in population. Even though your genetic
risk is low, you are advised to:

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Your risk: • Keep healthy diet with enough vitamins and nutrients
1.5% • Avoid large amounts of caffeine
Average risk:

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29% • Have your vision examined by ophthalmologist regularly

Primary Open
Angle Glaucoma
(POAG)
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The analysis of genetic markers showed that your personal risk of developing POAG is 1.7
times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

• Keep healthy diet with enough vitamins and nutrients

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Your risk:

3.5% • Avoid large amounts of caffeine

Average risk:
2.1%
• Drink enough liquids
• Have your vision examined and intraocular pressure measured according to your
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doctor’s recommendation
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CARDIOVASCULAR DISEASES

Atrial Fibrillation The analysis of genetic markers showed that your personal risk of developing AF is 3.3

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(AF)
times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

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Your risk: • Eat heart-healthy foods (low in salt, saturated fat, rich in vegetables, fruits and
75.2% whole grains)
Average risk:
• Do some physical activity every day

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23%

• Avoid alcohol use and smoking

• Have regular physical check-ups

Coronary Artery
Disease (CAD)

Your risk:
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The analysis of genetic markers showed that your personal risk of developing CAD is 3.2
times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

• Keep your BMI below 25

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77.8% • Avoid stress and smoking
Average risk:
24.4% • Have regular physical check-ups
• Have your blood tested for cholesterol (LDL, HDL, total cholesterol) and
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triglycerides level on a regular basis

Intracranial The analysis of genetic markers showed that your personal risk of developing IA is 0.9
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Aneurysm (IA)
times lower than the average risk in population. Even though you have the average genetic
risk, you are advised to:

Your risk: • Avoid triggers that can lead to the disease, such as smoking, alcohol and drug
6.3% abuse
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Average risk:
7% • Eat properly and exercise regularly
• Have regular physical check-ups
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Peripheral Arterial The analysis of genetic markers showed that your personal risk of developing PAD is 1.2
Disease (PAD)
times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

Your risk: • Avoid active and passive smoking

17.4% • Eat a healthy, balanced diet (keep your BMI < 25)
Average risk:
14.5% • Do regular daily exercise
• Monitor your cholesterol and blood pressure levels
• Have regular physical check-ups

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 Venous The analysis of genetic markers showed that your personal risk of developing VTE is 35.2
Thrombembolism
times higher than the average risk in population. To reduce the risk you are strongly
(VTE)
recommended to:

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Your risk:
• Keep your BMI below 25 and drink enough water
90%

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• Avoid smoking
Average risk:
5%
• Do regular moderate exercise
• Consult with your doctor about the need of preventive measures before surgery,

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during pregnancy and ca 6 weeks period after childbirth

ENDOCRINE, NUTRITIONAL AND METABOLIC DISEASES

Celiac Disease (CD)

Your risk:
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The analysis of genetic markers showed that your personal risk of developing CD is high.
To reduce the risk you are strongly recommended to:

• Avoid triggers that can lead to the disease, such as severe stress, physical injury or
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5.5% infection
Average risk: • Consult a specialist about following a gluten-free diet
1%
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Folate Metabolism The analysis of genetic markers showed that your personal risk of developing FM-
(FM)
associated diseases is moderately higher than the average risk in population. Detected CT
genotype provide ~60% of the expected MTHFR enzyme activity, compared to the most
common genotype CC, which explain normal (100%) enzyme activity. To reduce the risk
you are recommended to:
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• Limit methionine-rich food (brazil nuts, meat, cheese)

• Eat food rich in vitamin B complex
• Consult your doctor about additional folic acid intake
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Gallstone Disease The analysis of genetic markers showed that your personal risk of developing GSD is 0.8
(GSD)
times lower than the average risk in population. Even though your genetic risk is low, you
are advised to:

Your risk: • Drink enough water

21.3% • Avoid high saturated fat consumption and excessive dietary fiber intake
Average risk:
27% • If you plan to lose weight, do it slowly (no more than 2 pounds (0,5-1 kg) per week)

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 Graves' Disease The analysis of genetic markers showed that your personal risk of developing GD is 7 times
(GD)
higher than the average risk in population. To reduce the risk you are strongly
recommended to:

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Your risk: • Avoid triggers that can lead to the disease, such as smoking and stress
8%

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• Check your thyroid hormone levels regularly
Average risk:
1.2%

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Higher Sugar The analysis of genetic markers showed that your genotype indicates a higher
Consumption

are recommended to:

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consumption of sweet food products. To limit over-consumption of sweet food products you

• Avoid ready-made sweet food products

• Replace sweetened products with products made from natural ingredients
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• Avoid consuming soft drinks, sweetened canned juice, vitamin water drinks and
energy drinks
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Lactose Intolerance The analysis of genetic markers showed that your personal risk of developing adult-type LI
(LI)
is high. To minimize clinical symptoms, you are strongly advised to:
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• Follow a lactose-restricted diet

• Be consistent in following dietary advice from your doctor/nutritionist
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Obesity The analysis of genetic markers showed that your personal risk of developing obesity is 0.2
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times lower than the average risk in population. Even though your genetic risk is low, you
are advised to:

Your risk: • Eat fresh and healthy food

8.9% • Avoid fast food
Average risk:
38% • Do at least 30 min of regular physical exercise daily

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 Type 1 Diabetes The analysis of genetic markers showed that your personal risk of developing T1D is 0.2
(T1D)
times lower than the average risk in population. Even though your genetic risk is low, you
are advised to:

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Your risk: • Ensure pre- and probiotic intake in your diet to maintain normal microbiota
0.1%

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Average risk:
0.6%

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Type 2 Diabetes The analysis of genetic markers showed that your personal risk of developing T2D is 0.2
(T2D)

Your risk:

7%
Average risk:
• Keep your BMI below 25
• Follow healthy diet
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times lower than the average risk in population. Even though your genetic risk is low, you
are advised to:
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38.5% • Do at least 30 to 60 min of daily physical activity
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Vitamin B12 The analysis of genetic markers showed that your personal risk of developing vitamin B12
metabolism
deficiency is lower than the average risk in population. Even though your genetic risk is low,
you are advised to:
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• Ensure a vitamin B12-rich diet (or use supplement if vegan)

• Avoid smoking and consume alcohol in moderation
• Limit caffeine intake
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Vitamin B6 The analysis of genetic markers showed that your personal risk of developing vitamin B6
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metabolism
deficiency is higher than the average risk in population. To reduce the risk you are strongly
recommended to:

• Ensure your diet is rich in vitamin B6

• Avoid smoking and consume alcohol in moderation
• Limit caffeine intake
• Consult your doctor about monitoring vitamin B6 levels and adequate intake

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 Vitamin D The analysis of genetic markers showed that your personal risk of developing vitamin D
metabolism
deficiency is moderately higher than the average risk in the population. To reduce the risk
you are recommended to:

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• Eat vitamin D rich food (eggs, oily fish, yoghurt)

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• Ensure sufficient exposure to sunlight (to face and arms for 30 min/daily)
• Check your vitamin D levels regularly
• Ask your doctor about your vitamin D intake

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NEUROLOGICAL DISEASES

Alzheimer Disease
(AD) EP
The analysis of genetic markers showed that your personal risk of developing AD is 1.9
times higher than the average risk in population. To reduce the risk you are strongly
recommended to:
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Your risk: • Ensure regular daily exercise and eat properly
38%
• Avoid smoking
Average risk:
20%
• Get enough decent sleep
• Keep active and mentally stimulated
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• Have regular physical check-ups

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Migraine with aura The analysis of genetic markers showed that your personal risk of developing MA
(MA)
corresponds to the average risk in population. Even though you have the average genetic
risk, you are advised to:

Your risk: • Avoid triggers that can lead to the disease, such as smoking, alcohol, stress,
48%
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anxiety, lack of food and sleep

Average risk:
43%
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Multiple Sclerosis The analysis of genetic markers showed that your personal risk of developing MS is 4.8
(MS)
times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

Your risk: • Avoid triggers that can lead to this disease, such as smoking
0.29% • Relieve stress
Average risk:
0.1% • Eat a balanced diet and exercise regularly
• Avoid overexposure to sunlight

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ONCOLOGICAL DISEASES

Basal Cell The analysis of genetic markers showed that your personal risk of developing BCC is 0.9

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Carcinoma (BCC)
times lower than the average risk in population. Even though your genetic risk is low, you
are advised to:

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Your risk: • Use at least SPF 15 suncream
20.6% • Avoid tanning lamps and beds
Average risk:

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23% • Check your skin regularly, and consult your doctor about changes

Bladder Cancer

Your risk:

2.1%
strongly recommended to:
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The analysis of genetic markers showed that your personal risk of developing bladder
cancer is 1.7 times higher than the average risk in population. To reduce the risk you are

• Avoid active and passive smoking

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• Avoid chemical exposure
Average risk:
1.2% • Drink water throughout the day
• Keep an eye on your urination
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• Have regular physical check-ups

Breast cancer The analysis of genetic markers showed that your personal risk of developing breast
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cancer is 10 times higher than the average risk in population. To reduce the risk you are
strongly recommended to:

• Do regular exercise most days of the week

• Eat a healthy diet and drink alcohol in moderation, if at all
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• Give yourself regular breast exams

• Have regular breast exams and screening
• Limit postmenopausal hormone therapy
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Colorectal Cancer The analysis of genetic markers showed that your personal risk of developing CC is 2.8
(CC)
times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

Your risk: • Eat a healthy diet

13.6% • Avoid smoking and alcohol
Average risk:
4.9% • Exercise most days of the week
• Have your health check-ups performed regularly and in case of family history of
CC, start regular screening

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Gastric Cancer (GC) The analysis of genetic markers showed that your personal risk of developing GC
corresponds to the average risk in population. Even though you have the average genetic
risk, you are advised to:

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Your risk: • Reduce salted, pickled or smoked food in your diet
0.6%

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• Eat a wide variety of vegetables and fruits
Average risk:
0.6% • Avoid smoking

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Lung Cancer (LC) The analysis of genetic markers showed that your personal risk of developing LC is 0.9

Your risk:

5.8%
Average risk:
are advised to:

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times lower than the average risk in population. Even though your genetic risk is low, you

• Avoid triggers that can lead to the disease, such as smoking and exposure to other
chemicals (arsenic, asbestos, silica)
• Test your home for radon
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6.7%

• Ensure healthy diet rich in vegetables and fruits

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Melanoma The analysis of genetic markers showed that your personal risk of developing melanoma is
5.8 times higher than the average risk in population. To reduce the risk you are strongly
recommended to:
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Your risk: • Use at least SPF 15 sunscreen

10.9% • Avoid tanning lamps and beds
Average risk:
1.9% • Check your skin regularly, consult your doctor about changes
• Have regular physical check-ups
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Prostate Cancer The analysis of genetic markers showed that your personal risk of developing PC is 1.8
(PC)
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times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

Your risk: • Exercise regularly most days of the week

0% • Eat a diet rich in vegetables and fruits
Average risk:
0% • Add foods containing phytoestrogens to your diet (tofu, soymilk, soybeans)
• Have regular physical check-ups

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OTHER CONDITIONS

Osteoporosis The analysis of genetic markers showed that your personal risk of developing osteoporosis

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is 1.6 times higher than the average risk in population. To reduce the risk you are strongly
recommended to:

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Your risk: • Exercise regularly
62% • Include foods rich in calcium and vitamin D in your diet
Average risk:

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40% • Avoid smoking and alcohol
• Consult your doctor about the measurement of your BMD

Male Pattern
Baldness (MPB)

Your risk:

13.3%
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The analysis of genetic markers showed that your personal risk of developing MPB is 0.4
times lower than the average risk in population. Even though your genetic risk is low, you
are advised to:

• Avoid stress
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• Ensure sufficient dietary nutrient intake
Average risk:
38%
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Overview of the Diseases

Alzheimer disease (AD) is the most common cause (70%) Various epidemiological studies have found sun exposure
of dementia worldwide, characterized by a progressive as the main environmental trigger of BCC. Incidence rate

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decline in cognitive function, such as memory loss and of BCC is higher in places with increased sun exposure
changes in behavior. It is a chronic disease with level, e.g. equator and northern territories of Australia.
progressive degeneration of brain cells and cell Sun exposure (UV light) is associated with cancer due the

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connections, causing a deterioration in mental function. ability of UV radiation to induce direct mutations of DNA.
The incidence rate for AD in European and American According to the population-based analyses, estimated
populations increases exponentially with age, especially genetic factors account for 7.7%. Mortality of BCC is low,

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at 70-80 years of age. AD is classified into early onset (65 but the malignancy of disorder is associated with lifetime
years) accounting for >95% of all cases. Late onset healthcare costs. Treatment depends of the size, type,
heritability is 33% and affects men and women equally. depth and location of the cancer and may include
Although current treatment of AD with medications can’t
stop the disease's progression, it helps lessen symptoms
for a limited time. Creating a supportive environment for
a person with AD is important.

AD risk factors: Older age / Family history / Gender

EP freezing, surgery, cryotherapy, chemotherapy, radiation
therapy, photodynamic therapy etc.

BCC risk factors: Excessive sun exposure / Tanning

devices / Fair skin, light hair and eye color / Older age /
Viral infections / Immunosuppression / Psoriasis treated
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(female) / Hemorrhagic and large ischemic cortical with psoralen + UVA ​Radiotherapy.
infarcts / White matter infarcts / Traumatic brain injury /
Bladder cancer affects people mostly after the age of 40;
Hypertension / T2D / Elevated cholesterol level and
the median age at diagnosis is 73 years. The disorder
dyslipidemia / Metabolic syndrome / Smoking / Lack of
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occurs 3-4 times more often in men than in women.

exercise / Social inactiveness and low mental activity.
Estimated heritability for bladder cancer is 31%. Bladder
Atrial fibrillation (AF) is the most common cardiac cancer can be characterized by non-muscle invasive
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arrhythmia, characterized by absence of coordinated lesions (60%) and aggressive muscle-invasive lesions
atrial contractions. In the case of AF, the heart rate rises (40%) that are mostly associated with high mortality rate.
to 180 beats (normal rate 60-80) per minute, lasting from There are few symptoms to detect this disorder:
seconds to days. Symptoms include shortness of breath increased frequency of urination, pain or burring during
and weakness. AF affects nearly 1% of population, urination, blood in the urine, and being unable to urinate.
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prevalence is 1.5 times higher among men. AF in the The efficacy of treatment depends on the clinical stage
general population is heritable. For treatment, electrical and associated risk factors. Treatment options may
cardioversion or anti-arrhythmic medications are used. If include surgery, immunotherapy, chemotherapy and
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the medications are not working, catheter or surgical radiation therapy.

procedures are applied.
Bladder cancer risk factors: Smoking / Gender (male) /
AF Risk factors: Older age / High blood pressure / Ethnicity (Caucasian) / Environmental toxins (arsenic,
Coronary heart disease / Heart failure / Rheumatic heart aromatic amines) / Previous cancer treatment
disease / Myocardial infarction / Heart valve defects / (cyclophosphamide) / Certain diabetes medications
Pericarditis / Congenital heart defects / Hyperthyroidism, (pioglitazone, metformin) / Chronic bladder inflammation
sleep apnea, metabolic syndrome, chronic kidney and / Family history of Lynch syndrome.
lung diseases / Alcohol use / Obesity / Family history.

Basal cell carcinoma (BCC), the most common type of

skin cancer, is characterized by slow growth, localization
and very rare metastatic rate, less than 0.1%.
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Breast cancer is one of the most frequently diagnosed Colorectal cancer (CC), also known as colon cancer,
cancers in women. The disorder affects both males and occurs when cancer cells form in the tissue of colon. CC is

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females, but the incidence in males is 100 times lower. one of a major causes of mortality worldwide, accounting
The estimated heritability of breast cancer varies from for 9% of all cancer incidences. It affects men and women
5% to 10%. Although breast cancer has been studied equally and is mainly a disease of developed countries.

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extensively over the recent years, there is little known The estimated heritability of CC is 65%. CC survival
about the exact causes of this disorder, although they are chance is highly dependent on the stage of diagnosis. CC
most likely complex interactions between genetic makeup mostly begins with formulation of noncancerous clumps

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and environmental factors. There are many options for of cells, called adenomatous polyps, which may turn to
breast cancer treatment, depending on the type and cancer during the latency period. Polyps treatment is one
stage of cancer and overall health condition. Treatment of the most important CC preventions. CC has a lot of
may involve surgery, chemotherapy, hormonal therapy
and radiation.
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Breast cancer risk factors: Gender (female) / Older age /
Family history / Inherited known mutations in genes
BRCA1 and BRCA2 / Obesity / Menopausal hormone
environmental risks that can be regulated, helping to
prevent cancer.

CC risk factors: Older age / Adenomatous polyps / Family

history / Inherited syndromes (Lynch syndrome, familial
adenomatous polyposis) / Inflammatory bowel disease
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therapy / Having no children or first child over the age of (Crohn disease and colitis) / Race (African-Americans) /
35 / Radiation exposure to the chest / Alcohol intake / Diet high in fat and red meat, low in fiber / Obesity /
Smoking / Beginning menopause at an older age / Smoking ​ / Alcohol abuse.
Beginning menstruation before 12 years.
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Coronary artery disease (CAD) is a group of diseases

Celiac Disease (CD) is chronic systemic autoimmune such as stable and unstable angina, myocardial infarction
disease with a very strong genetic component. The and arteriosclerosis. CAD is the main cause of death and
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heritability of CD is estimated to be 31%. Intake of gluten disability worldwide and represents a complex disease
(protein found in wheat, rye and barley) for people with with both genetic and environmental determinants. CAD
CD causes damage in the small intestine and nutrients is a result of plaque buildup in a person’s arteries blocking
are not properly absorbed. In general, it is estimated that blood flow that transports oxygen and vital nutrients
1% of general population has CD, with a rate twice as high necessary for proper functioning of the heart. Heritability
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in females. Recent studies have shown the role of the factors for CAD risk account for 30–60% of the inter-
human microbiome in formation of this disease. CD may individual variation. Prevention of CAD involves a
be triggered by severe stress, physical injury and combination of lifestyle factors and physiological
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infection. Adult occurrences of CD are more common parameters, often combined with medications. In case of
than pediatric cases. The typical symptoms in children treatment medications play a central role in reducing
appear at age under 2 years with malabsorption and poor mortality in patients with CAD.
growth. A gluten-free diet is the only available and
CAD risk factors: Older age / Gender (male) / Smoking /
effective CD treatment. For severe small intestine
Diabetes status / Angina or heart attack in a 1st degree
damage, medication may be prescribed.
relative < 60 / Chronic kidney disease / Atrial fibrillation /
CD risk factors: 1st and 2nd degree relative with celiac Blood pressure treatment / Rheumatoid arthritis / HDL
disease / Type 1 diabetes / Down syndrome or Turner level / BMI.
syndrome ​/ Autoimmune thyroid disease / ​Liver diseases /
​Rheumatoid arthritis.

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Exfoliation glaucoma disease occurs in eyes with the most frequent health problems, affecting 10–15% of
exfoliation syndrome (XFS). XFS is a disease in which the the adults. GSD has been rare in childhood, but has

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abnormal deposition of fibrillar extracellular material become increasingly recognized with the prevalence of
occurs in many ocular tissues. Patients with XFS have an obesity in late teenager years. GSD is detected by
increased risk of developing an additional angle-closure abdominal ultrasound. Gallstones should be treated only

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glaucoma. Exfoliation glaucoma caused by XFS has a if they cause symptoms. 80% of people with gallstones do
worse prognosis compared to primary glaucoma and not have any pain at all. Common symptoms are
requires more serious clinical treatment. Exfoliation abdominal pain, fever, nausea or vomiting, clay-colored

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glaucoma occurs worldwide and is strongly associated stools, a yellowish tint in skin or eyes. Treatment options
with elevated intraocular blood pressure and age. The include laparoscopic gallbladder removal and
highest prevalence is in the age group 70 and over. medications to dissolve the gallstones.
Recent studies have shown that glaucomas and XFS are

eye diseases. Topical medications for treatment tend to

be less effective, laser therapy is frequently used. If
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often aspects of systemic conditions rather than isolated

adequate control is still not achieved, a guarded filtration

GSD risk factors: Gender (female) / Age (60 or older) /
Ethnicity (Northern Europeans, American Indians) /
Pregnancy / Family history / Certain cholesterol
medications / Overweight or obesity / Rapid weight loss /
High fat or cholesterol diet / Excessive dietary fiber intake
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may be performed.
/ Diabetes.
Exfoliation glaucoma risk factors: Older age / Elevated
Gastric cancer (GC) is the fifth most common cancer
intraocular pressure / Northern European ethnicities /
worldwide and is more common in Asia, South America
Family history of glaucoma / Type 2 diabetes /
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and Eastern Europe. The disorder occurs up to 2.5 times

Hypothyroidism ​/ Corticosteroids use.
more often in men than in women. GC is rarely found in
Folate (vitamin B9) plays an important role in DNA patients younger than 40 years. Most GCs occur
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synthesis. Disturbed folate metabolism (FM) is implicated sporadically, whereas 8% to 10% has an inherited familial
in many different diseases, including congenital birth component. GC often produces no specific symptoms and
defects, late pregnancy complications, Down syndrome, therefore diagnosis is often delayed. Patients may exhibit
psychiatric disorders, osteoporosis and cancer. Folate is anorexia and weight loss (95%) as well as abdominal pain
an important nutrient for a healthy pregnancy. that is vague and insidious in nature. GC is highly
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Population-based studies in Caucasians have estimated preventable by avoiding smoking and keeping a healthy
17% heritability effect for folate metabolism. The lifestyle. Treatment depends on the stage of GC and
recommended daily intake is 400 microgram (mcg) and overall health condition and may include surgery,
SA

up to 600 microgram (mcg) for women who are pregnant radiation therapy, chemotherapy and targeted drugs.
or planning a pregnancy. The primary dietary source of
GC risk factors: Older age / Gender (male) / Helicobacter
folate are green vegetables, beans and liver.
pylori infections / Diet high in salted, pickled or smoked
FM disorder risk factors: Family history. food / Eating foods contaminated with aflatoxin fungus /
Type A blood / Pernicious anemia / Family history /
Gallstone disease (GSD) is caused by crystallized and
Smoking / Obesity / Lynch syndrome / Asbestos
hardened bile components in the gallbladder leading to
exposure.
gallstones. 80% of gallstones are made of cholesterol and
the other 20% of calcium salts and bilirubin. GSD is one of

18
Graves’ disease (GD) is an autoimmune disease and the physiological and individual factors, such as vessels'
most common cause of hyperthyroidism, when thyroid localization, their size and morphology, presence of

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glands make more thyroid hormone that the body needs. thrombus, age, medical history, family history and the
As a result, patient may have muscle weakness, sleep overall health of a patient. IA prevention must be applied
disorders, fast heartbeat, diarrhea and eye problems in individuals with two or more affected first-degree

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such as bulging. According to population-based studies, relatives.
estimated heritability is 40% to 50%. Women, especially in
IA risk factors: Aging Gender (female) / Smoking /
reproductive age, have a disease incidence several times

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Hypertension / Atherosclerosis / Alcohol and drug abuse
higher than men. The current treatment of GD restores
(cocaine) / Head injury / Estrogen deficiency in
thyroid levels effectively, but has serious side effects.
menopause ​/ Arteriovenous malformation ​/ Carotid artery
Possible treatments include medication (anti-thyroid,
radioiodine) and surgery.

GD risk factors: Family history / Gender and age (female

under 40) / Autoimmune diseases / Stress / Smoking /
Immune modulators / Pregnancy (genetically susceptible
women).
EP stenosis / Autosomal dominant polycystic kidney disease /
Marfan syndrome / Ehlers-Danlos
Neurofibromatosis ​/ Family history.

Lactose intolerance
syndrome

(LI) is a widespread metabolic

disorder caused by the inability to digest lactose due to a
/
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shortage of the lactase enzyme. Lactase activity is high
Higher consumption of sweet food products, such as during infancy, when milk is the main source of nutrition,
baked goods, candies, sweetened dairy products, and declines after the weaning phase in most mammals.
chocolate and sweetened soft beverages has a strong Approximately 75% of the world’s population loses the
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association with overweight and obesity, risk of diabetes, ability to digest lactose. The prevalence of adult-type
fractures, and dental caries. Sweet food products may lactose intolerance varies depending on ethnicity, from
lead to weight gain through high added-sugar content, less than 5% in northwestern Europe to almost 100% in
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low satiety, and incomplete compensation for total some Asian populations. Clinical symptoms of LI usually
energy. Studies have shown that higher sweet food intake begin 30 minutes to 2 hours after eating or drinking foods
is partly determined by genes. that contain lactose, such as dairy products. The severity
of symptoms varies, depending on the amount of lactose
Higher sugar consumption risk factors: Family lifestyle /
each individual can tolerate. It is important to distinguish
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Genetic predisposition / Unhealthy diet / Psychological

LI from other conditions, for example irritable bowel
and social issues.
syndrome, which has very similar symptoms. Treatment
Intracranial aneurysm (IA) is characterized by weakness for lactose intolerance includes a lactose-restricted diet.
SA

in the wall of a cerebral artery causing ballooning of the

LI risk factors: Increasing age / Ethnicity (Southern
blood vessels in the brain with devastating consequences.
Europeans, Asians) / LCT gene polymorphism -13910 GG
The incidence of IA is 5% to 10% worldwide and disease is
genotype.
1.24-1.6 times more common in women than in men.
Optimal treatment for IA takes into account both

19
Lung cancer (LC) occurs when cancer cells form in the Migraine with aura (MA), a subtype of migraine, is a
cells lining the air passages in lungs. LC remains the chronic neurological and sometimes progressive disorder

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leading cause of cancer death in both men and women that is characterized by recurrent episodes of headache
worldwide. The heritability of lung cancer has been clearly and associated conditions, such as vomiting and
established and account for 8%. The most important sensitivity to light, smells, and sounds. Aura symptoms,

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environmental factor that causes the LC is exposure to usually visual, precede the headache. During the
tobacco smoke through both active and passive smoking migraine attack blood vessels dilate in the brain, causing
(85% of all cases). The disease affects women over 60 pain for 2 to 72 hours. Heritability of different migraine

O
years twice more than men. To date, quitting smoking has types is estimated to be 34–51%. Migraine can occur in
been shown to reduce the risk of LC. Treatment options any period of life, affecting women 2-3 times more than
include surgery, chemotherapy, radiation therapy, men. Migraine treatment involves acute and preventive
targeted drug therapy.

LC risk factors: Smoking / Passive smoking / Exposure to

radon gas / Biomass fuels / Coal burning / Exposure to
arsenic, asbestos, silica / Solid fuels while cooking and
heating (formaldehyde and benzene) ​ / Gender (female).
EP therapy. Patient with migraine should be screened for
cardiovascular traits, which should be treated first, then
consulted by both

factors and
neurologist and

medications.
neurosurgeon.
Prevention of migraine involves the combination of
lifestyle Pain relieving
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medications play essential role in treatment.

Melanoma is the most serious type of skin cancer,

MA risk factors: Family history / Gender (female) / Oral
affecting melanocytes (cells producing skin pigment
contraceptives / Hormonal changes.
melanin). Melanoma may also occur in eyes, and rarely in
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intestines. Although it accounts for only 4% of all skin Multiple sclerosis (MS) is a complex condition caused by
cancer types, it causes 80% of skin cancer deaths. If the many contributing factors, such as environmental,
condition is recognized and treated early, it is almost behavioral and genetic factors. In MS, the immune system
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always curable. There is a broad spectrum of protection attacks and damages myelin, the protective sheath of the
strategies. Doctors recommend sun avoidance between nerve fibers. The disorder affects the brain, spinal cord
10 am and 4 pm. When sun cannot be avoided, use sun and optic nerve in eyes. Occurrence is 2-3 times higher in
protective clothing and sunscreens with SPF of 15 and women than in men. The estimates for heritability of MS
higher. Total avoidance of artificial UV sources is highly cover a wide range from 25% to 76%. Medication used for
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advised. Treatment depends on the size, stage and MS treatment is aimed at modification of the course of
location of cancer. Early stage melanoma is removed by the disease, treating relapses and managing symptoms.
biopsy; for spreading melanoma, surgery is used to Physical therapy and relaxation are used to support
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remove affected lymph nodes. Chemotherapy, radiation overall health condition.

therapy, biological therapy and targeted therapy may be
MS risk factors: Overexposure to sunlight / Vitamin D
also used.
deficiency / Latitude (Europe, North America, Australia,
Melanoma risk factors: Sunlight overexposure / Tanning New Zealand and Japan) / Epstein-Barr virus / Race
devices / Gender and age (female under 40, male over (Northern European descent) / ​S moking.
40) ​ / Family history ​ / Melanocytic nevi (unusual moles).

20
Overweight and obesity can be easily defined by Peripheral arterial disease (PAD) occurs when plaque,
calculation of Body Mass Index (BMI). BMI is the weight in formed from fat, cholesterol, calcium, fibrous tissue and

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kilograms divided by the height in meters squared other substances in the blood, builds up in the walls of the
(kg/m2). According to the WHO, being overweight is arteries, causing problems with heart, brain and other
defined as having a BMI between 25.0 and 29.9, and organs. To date, this disorder is often underdiagnosed,

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obesity as having a BMI greater than 30.0. At an individual poorly understood, and much more common than was
level, obesity occurs when increased amount of expected a few years ago. It is estimated that ca. 12% of
triglycerides are stored in adipose tissue and released the adult population worldwide has PAD and this disease

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later as free fatty acids, causing detrimental effects. affects men and women equally. PAD may be
Studies estimate heritability of overweight and obesity to asymptomatic or have various symptoms such as rest
be 40%-70%, but the primary mechanism of obesity is pain, ischemic ulcers, gangrene, atypical leg pain. Studies
permanent calorie imbalance: high caloric food intake
with a sedentary lifestyle. Many studies have shown that
increased BMI above 27 for both men and women
increases mortality. On the other hand, a significantly low
BMI in women indicates malnutrition and also leads to
EP have demonstrated 58% of genetic heritability of PAD.
There are several ways to treat PAD, such as smoking
cessation, lipid-lowering therapy,
management and antithrombotic therapy.

PAD risk factors: Smoking / Older age / Diabetes /

hypertension
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osteopenia, osteoporosis and increases the risk of
Hypertension / Hyperlipidemia / Obesity / Metabolic
premature childbirth.
syndrome ​/ Chronic kidney disease.
Obesity risk factors: Family lifestyle / Genetics / Inactivity /
Primary open-angle glaucoma (POAG) is characterized by
Unhealthy diet / Cushing´s syndrome / Prader-Willi
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elevated intraocular pressure and progressive peripheral

syndrome​​ / Psychological and social issues.
vision loss due to optic nerve damage. The disease is
Osteoporosis is a multifactorial disease in which the more prevalent and more difficult to control in African-
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density and quality of bones are reduced making them Americans than in Europeans. In Europe glaucoma affects
fragile and more likely to break. The most common 1% to 2% of people aged over 50. Glaucoma is the second
fractures associated with osteoporosis occur at the hip, leading cause of blindness in the world. Typical symptoms
spine and wrist. Globally, 1 in 3 women and 1 in 5 men are of POAG are eye pain, blurred vision, halos around lights
at risk of an osteoporotic fracture. The measurement of and tunnel vision with gradual loss of peripheral vision in
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bone mineral density (BMD) is a major predictor of the later stages. Early diagnosis can minimize and
osteoporotic fractures. Although BMD is highly heritable, prevent optical nerve damage. Medicated eye-drops are
only a few genes with modest effects on the risk of used to lower intraocular pressure. If the medications are
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developing osteoporosis have so far been discovered. ineffective or not tolerated, certain types of surgeries
Treatment for osteoporosis is based on treating and may be performed.
preventing fractures and using medications, healthy diet
POAG risk factors: Older age / Ethnicity (Caucasian,
and exercises to strengthen bones.
African-American) / Myopia / Elevated intraocular
Osteoporosis risk factors: Gender (postmenopausal pressure / Family history of glaucoma / Type 2 diabetes /
female) / Age (50 and older) / Family history / Hypothyroidism / Corticosteroids use / Pseudoexfoliation /
Inflammatory conditions / Hyperthyroidism/ Cardiovascular disease.
Hyperparathyroidism / Having no children / Calcium
deficient diet / Low body weight / Sedentary lifestyle /
Long-term use of some medications (oral prednisolone) /
Estrogen deficiency / Excessive alcohol use / Smoking.

21
Psoriasis is the common chronic inflammatory disorder Systemic lupus erythematosus (SLE) is a chronic
that affects skin or joints or both. Under psoriasis the inflammatory autoimmune disease that affects

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immune system sends signals to the skin cells to grow connective tissue and may provide many internal and
faster than normal resulting in the formation of itchy, dry, cutaneous findings. Autoimmune attacks occur in the
red patches. Genetic heredity accounts for 50% for all five heart, joints, lungs, liver, skin, blood vessels, kidneys etc.

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types of psoriasis. The prevalence varies from 0.91% in The estimated heritability of SLE disorder is 66%. The rate
Southern Europe to 8.5% in Nordic countries. Psoriasis is is 9 times higher in women than in men and the course of
prevalent equally for both sexes. The diagnosis is usually the disease is unpredictable. SLE is triggered by

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based on clinical findings and the skin biopsy is rarely environmental factors in genetically predisposed people.
needed. To date, psoriasis has no known way of SLE can be diagnosed by few symptoms, such as malar
prevention and treatment, but many therapies can reduce rash, photosensitivity, discoid skin rash, kidney
or nearly stop the symptoms.

Psoriasis risk factors: Family history / Smoking / Stress /

Medications (β-blocking agents, angiotensin-converting
enzyme inhibitors, and calcium channel blockers) /
​A lcohol intake / ​Obesity ​/ Viral and bacterial infections.
EPabnormalities, blood-count abnormalities
irritation. The treatment is applied according to the
personal features of a patient, such as symptoms, age,
general health, and lifestyle.

SLE risk factors: Gender (female) / Age (between 15 and

and brain
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45) / Race (African-Americans, Hispanics, Asians) / Family
Rheumatoid arthritis (RA) is an autoimmune inflammatory
history.
disease that predominantly affects joints that are lined
with connective tissue responsible for maintaining Type 1 diabetes (T1D) is a chronic autoimmune disease,
E

nutrition and lubrication of the joint. RA leads to loss of during which pancreatic cells, which store and produce
joint function due to the loss of muscle around the insulin, are damaged, resulting in insulin deficiency and
affected joint, causing pain and swelling. The acute phase hyperglycemia. Both type 1 and type 2 diabetes result in
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of the disease leads to cardiovascular disorders and high blood glucose levels causing serious health
other comorbidities. Heritability plays a substantial role; complications, including kidney failure, blindness, stroke
studies of Northen European populations suggest that and heart diseases. Heritability plays a substantial role
genetic factors account about 50% of disease and accounts for ca 50% of T1D. According to recent
susceptibility. The worldwide incidence varies between studies, consuming adequate amounts of vitamin D in
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0.5% and 1%. RA treatment is symptomatic - medications young adulthood may decrease the risk of adult-onset
are used to reduce inflammation and relieve pain in T1D by as much as 50%. The primary treatment is based
combination with physical and occupational therapy. The on the monitoring of blood sugar level; insulin injections
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primary goal of the treatment is remission with no active are used every day to prevent long-term complications
joint inflammation. Surgery may be necessary if joints are associated with the disease.
severely damaged.
T1D risk factors: Family history / Viral infections / Lack of
RA risk factors: Family history / Gender (female) / Age Vitamin D in young adulthood / Changes in the gut
(mostly between 40- 60 years) / Smoking / Obesity / Late microbiota.
age at menarche.

22
Type 2 diabetes (T2D), also called non-insulin diabetes is major side effect is increased risk of hemorrhage, which
the most common type of diabetes. In case of this disease may be fatal in up to 25% of cases. For life-threatening

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the body is still able to produce insulin. T2D is caused by a situations, thrombolytics and surgical clot removal is
lack of insulin produced by the pancreas or incorrect use used. Temporary inferior vein filters are used in patients
of insulin. This leads to a situation when glucose is not with high risk of deep vein thrombosis.

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able to perform its function as an energy molecule. WHO
VTE risk factors: Family history / Surgery / Trauma /
estimated there are 285 million people with this disease,
Chronic disease / Obesity / Pregnancy / Oral
which is equivalent to about 6% of the adult population

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contraceptives / Hormone replacement therapy / Cancer
worldwide. Symptoms of T2D are increased hunger with
​Immobility ​/ Dehydration ​/ Smoking.
weight loss, fatigue, blurred vision, areas of darkened
skin, increased thirst and frequent urination. Early testing Vitamin B12 is involved in DNA synthesis, neurological
for T2D could lead to a better treatment and impairing
glucose intolerance, resulting in a better outcome. For
prevention and treatment of diabetes, it is essential to
maintain weight by ensuring a healthy diet and good
exercise habits. Treatment may include use of diabetes
EP function, proper red blood cell formation, and also helps
prevent homocysteine elevated levels (may lead to heart
diseases). Deficiency is characterized by weakness,
irritability, fatigue, poor memory, confusion, depression,
and megaloblastic anemia. The best sources of vitamin
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medications or insulin therapy. B12 are beef liver, clams, salmon, sardines, and fortified
cereals. Smoking, alcohol, caffeine, and long-term
T2D risk factors: Overweight / Insufficient physical activity
antibiotic use inhibit the absorption of vitamin B12.
/ Family history of diabetes / High blood pressure /
According to studies, the presence of certain genetic
Increased waist circumference / Unhealthy diet / Ethnicity
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variants is associated with ca 16% lower vitamin B12

​/ Gestational diabetes.
levels. A strict vegetarian diet will result in significantly
Venous thromboembolism (VTE) is a term defining deep- lower levels of vitamin B12, and such individuals should
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vein thrombosis, pulmonary embolism, or both. VTE is be monitored carefully for the deficiency. Recommended
characterized by blood clots in a vein, which can grow and Dietary Allowance (RDA) of vitamin B12 for adults is 0,003
dislocate. VTE is associated with morbidity and mortality. – 0,004 mg/day.
VTE affects 2% to 5% of the population. About 30% of
Vitamin B12 deficiency risk factors: Pernicious anemia /
surviving patients develop recurrent VTE within 10 years.
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Lack of intrinsic factor (important for absorption) /

The incidence of VTE differs by age, race and gender, with
Genetic disorders that affect absorption.
the higher prevalence in white men aged 45-79. To date,
anticoagulant therapy is the main treatment for
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symptoms, also helping reduce recurrent VTE risk. One

23
Vitamin B6 carries an important role in the metabolism of Vitamin D deficiency is a widespread problem affecting as
amino acids, carbohydrates and lipids, as well as in many as one-half of otherwise healthy adults in

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biosynthesis of neurotransmitters and blood cells. developed countries. Vitamin D deficiency causes
Deficiency can result in anemia, scaling on the lips and osteomalacia, childhood rickets, osteoporosis and
cracking of the corners of mouth, neurological and fractures because of reduced calcium absorption. Other

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immune system disorders, elevated homocysteine levels consequences of vitamin D deficiency include
(may lead to heart diseases). The main sources of vitamin cardiovascular diseases, T1D and T2D, obesity, multiple
B6 are whole grains, liver, chickpeas, nuts, seeds etc. sclerosis, asthma and cancers of breast, colon, and

O
Smoking, alcohol and caffeine inhibit the absorption prostate. Vitamin D is produced mainly in the skin during
Vitamin B6. According to studies, the presence of certain exposure to sunlight. Although diet, intake of vitamin D
genetic variants is associated with 12-18% lower vitamin supplements and exposure to sunlight are known to
B6 level. Sufficient vitamin B6 intake is particularly
important for these individuals. Recommended Dietary
Allowance (RDA) of vitamin B6 for adults is 1.9- 2,4
mg/day.
EP
Vitamin B6 deficiency risk factors: Genetic predispositio /
influence serum vitamin D concentrations, genetic factors
may also contribute to variability in vitamin D level, with
estimates of heritability ranging from 23-80%. The
Recommended Dietary Allowance (RDA) for adults is 600
international units (IU) of vitamin D a day.
R
Kidney diseases / Malabsorption syndromes (celiac Vitamin D deficiency risk factors: Little sun exposure /
disease) / Heart failure / Liver cirrhosis / Thyroid Older age / Obesity / Genetic predisposition / Poor dietary
problems / Alcoholism / Certain medications intake of vitamin D.
(antirheumatic, antiepileptic).
E
PL
M
SA

24
Genetic Markers Information

Disease name Gene name SNP ID PubMed reference Genotype

T
Alzheimer disease APOE rs429358 23296339 CT

Alzheimer disease APOE rs7412 23296339 CC

R
Atrial fibrillation 4q25 rs10033464 17603472 GT

Atrial fibrillation PITX2 rs2200733 17603472 TT

O
Basal cell carcinoma PADI6 rs7538876 18849993 AG

Basal cell carcinoma

Bladder cancer

Bladder cancer

Breast cancer
Intergenic

TACC3

MYC

TP53
EP
rs801114

rs798766

rs9642880

rs1042522
18849993

23053209

18794855

17341484
GT

TT

TT

CC
R
Breast cancer RAD51B rs1314913 23001122 TT

Breast cancer ATM rs1800056 17341484 CT

E

Breast cancer ATM rs1800057 17341484 GG

Breast cancer ATM rs1800058 17341484 TT

PL

Breast cancer ATM rs1801673 17341484 TT

Breast cancer ATM rs3092856 17341484 CT

Breast cancer ATM rs3218695 17341484 CC

M

Breast cancer ATM rs3218707 17341484 CG

Breast cancer TNRC9 rs3803662 17529974 AA

SA

Breast cancer BRCA1 rs386833395 24528374 TT

Breast cancer BRCA1 rs397507246 24528374 GG

Breast cancer ATM rs4986761 17341484 TT

25
 Disease name Gene name SNP ID PubMed reference Genotype

T
Breast cancer BRCA2 rs80359550 25476495 TT

Celiac disease HLA-DQA1 rs2187668 18509540 CC

R
Celiac disease HLA-DRA rs2395182 18509540 GG

Celiac disease Intergenic rs4639334 18509540 AG

O
Celiac disease Intergenic rs4713586 18509540 AG

Celiac disease

Celiac disease

Colorectal cancer

Colorectal cancer
Intergenic

HLA-DQB1

SMAD7

Intergenic
EP
rs7454108

rs7775228

rs4464148

rs4779584
18509540

18509540

21075068

25475391
CT

CC

CT

TT
R
Colorectal cancer SMAD7 rs4939827 18372901 CT

Colorectal cancer Intergenic rs6983267 18268117 GT

E

Colorectal cancer TCF7L2 rs7903146 18268068 TT

Coronary artery disease LPA rs10455872 22560621 AG

PL

Coronary artery disease CDKN2B-AS1 rs10757274 18066490 GG

Coronary artery disease Intergenic rs10757278 18066490 AA

Coronary artery disease CDKN2B-AS1 rs2383206 18066490 AG

M

Coronary artery disease CDKN2B-AS1 rs2383207 18066490 AA

Coronary artery disease LPA rs3798220 18775538 CT

SA

Exfoliating glaucoma LOXL1 rs1048661 20142848 GT

Exfoliating glaucoma LOXL1 rs2165241 18287813 CT

Exfoliating glaucoma LOXL1 rs3825942 20142848 AG

26
 Disease name Gene name SNP ID PubMed reference Genotype

T
Gallstone disease ABCG8 rs11887534 17632509 GG

Gastric cancer MTHFR rs1801133 18162478 AG

R
Graves' disease IL-23R rs10889677 18472000 CC

Graves' disease TNF-α rs1800629 18472000 GG

O
Graves' disease TNF-α rs1800630 18472000 AC

Graves' disease

Graves' disease

Intracranial aneurysm

Intracranial aneurysm
IL-23R

IL-23R

SOX17

CDKN2A/CDKN2B
EP
rs2201841

rs7530511

rs10958409

rs1333040
18472000

18472000

18997786

18997786
AG

TT

AG

CC
R
Lactose intolerance MCM6 rs4988235 11788828 GG

Lung cancer CHRNA3 rs1051730 24254305 GG

E

Lung cancer HYKK rs8034191 24254305 TT

Lung cancer CHRNA5 rs951266 18385739 AA

PL

Male pattern baldness Intergenic rs6113491 18849994 AA

Male pattern baldness Intergenic rs6625163 18849991 AG

Melanoma MC1R rs1805007 16567973 TT

M

Migraine with aura MTHFR rs1801133 21635773 AG

Multiple sclerosis ILR2A rs12722489 22117963 CT

SA

Multiple sclerosis HLA-DRA rs3135388 19879194 AG

Multiple sclerosis HLA-DRA rs3135391 20593013 AA

Multiple sclerosis IL7R rs6897932 18721276 TT

27
 Disease name Gene name SNP ID PubMed reference Genotype

T
Obesity MC4R rs17782313 18454148 TT

Obesity MC4R rs2229616 18239646 TT

R
Obesity APOA2 rs5082 17446329 GG

Obesity PCSK1 rs6232 1860420 CC

O
Obesity APOA5 rs662799 17211608 GG

Obesity

Osteoporosis

Osteoporosis

Peripheral arterial disease

SH2B1

LRP5

LRP5

CHRNA5
EP
rs7498665

rs3736228

rs4988321

rs951266
22248999

18349089

18349089

18385739
GG

TT

GG

AA
R
Primary open angle glaucoma SIX1 rs10483727 21398277 CT

Primary open angle glaucoma ATOH7 rs1900004 21398277 CT

E

Primary open angle glaucoma CAV1-CAV2 rs4236601 24034151 AG

Primary open angle glaucoma TMCO1 rs4656461 21532571 AG

PL

Prostate cancer FUNDC2P2 rs1447295 17401363 CC

Prostate cancer Intergenic rs16901979 18199855 AA

Prostate cancer CASC17 rs1859962 18199855 GG

M

Prostate cancer Intergenic rs6983267 18199855 GT

Psoriasis TNF-α rs1800629 17553030 GG

SA

Psoriasis LCE3D rs4112788 23594316 AA

Rheumatoid arthritis PTPN22 rs2476601 16490755 AA

Rheumatoid arthritis TRAF1 rs3761847 17804836 AG

28
 Disease name Gene name SNP ID PubMed reference Genotype

T
Rheumatoid arthritis STAT4 rs7574865 20169389 GG

Sugar consumption SLC2A2 rs5400 18349384 AA

R
Systemic lupus erythematosus STAT4 rs10181656 18579578 CG

Systemic lupus erythematosus IRF5 rs10488631 18063667 CC

O
Systemic lupus erythematosus ITGAM rs1143679 18204448 AA

Systemic lupus erythematosus

Systemic lupus erythematosus

Systemic lupus erythematosus

Systemic lupus erythematosus

TNF-a

HLA-DQA1

SKIV2L

STAT4
EP
rs1800629

rs2187668

rs419788

rs7574865
16418737

17997607

17997607

20169389
GG

CC

TT

GG
R
Systemic lupus erythematosus ITGAM rs9888739 21379322 CT

Type 1 diabetes PTPN22 rs2476601 17554260 AA

E

Type 1 diabetes CLEC16A rs725613 18946483 GT

Type 1 diabetes STAT4 rs7574865 17554260 GG

PL

Type 1 diabetes HLA-DQA1 rs9272346 17554300 GG

Type 2 diabetes CDKN2B rs10811661 18368387 CT

Type 2 diabetes Intergenic rs1111875 18231124 TT

M

Type 2 diabetes TCF7L2 rs12255372 17671651 TT

Type 2 diabetes SLC30A8 rs13266634 18437351 CC

SA

Type 2 diabetes PPARG rs1801282 23874114 CC

Type 2 diabetes KCNJ11 rs5219 17977958 CT

Type 2 diabetes TCF7L2 rs7903146 17977958 TT

29
 Disease name Gene name SNP ID PubMed reference Genotype

T
Type 2 diabetes Intergenic rs9300039 17463248 AC

Type 2 diabetes FTO rs9939609 17554300 TT

R
Venous thromboembolism F2 rs1799963 2170759 AG

Venous thromboembolism F5 rs6025 2170759 TT

O
Vitamin B12 FUT2 rs602662 19303062 AG

Vitamin B6

Vitamin D

Vitamin D

Vitamin D
ALPL

CYP2R1

CYP2R1

GC
EP
rs4654748

rs10741657

rs10766197

rs4588
19303062

24587115

24587115

24587115
CC

AG

AG

GT
R
Vitamin D GC rs842999 24587115 CG
E
PL
M

Korneelia Anton MSc

SA

Molecular geneticist

30
Glossary

Average Risk is the percent of people who develop the an attempt to estimate the amount of body fat in an
condition during their life. This is compiled from individual, and then categorize that person as

T
authoritative epidemiological reports in the medical underweight (below 18.5), normal or healthy weight (18.5
literature. The figures are based on the total lifetime risk – 24.9), overweight (25 – 29.9), or obese (over 30) based
for that condition for your gender. on that value. BMI may not apply to athletes, because

R
athletes may have a high muscle to fat ratio and may
Your Risk is the probability you will develop the given
have a BMI that is misleadingly high relative to their body
condition and is calculated for you based on the genetic
fat percentage.

O
markers tested and the average population risk.
Caucasian is an old racial definition based on a skull from
Your Genetic Risk is calculated based on the genetic
the Caucasus mountains. Commonly used to
markers tested. Genetic risk 1 is the average risk. Genetic

average.

Gene name is official symbol of the gene this genetic

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risk less than 1 indicates that your risk is lower and more
than 1 that your risk is higher than the population
characteristic of a race of humankind native to Europe,
North Africa, and southwest Asia and classified according
to physical features —used especially in referring to
persons of European descent having usually light skin
pigmentation.
R
marker is located in. If the gene name is “intergenic”, it
European descent means individuals native to or derived
means genetic marker is located outside of a gene.
from Europe.

Single Nucleotide polymorphism (SNP) is a specific

Heritability describes the proportion of the genetic
variation in an individual’s DNA sequence. SNP ID is a
E

variance to the total variance. In other words, heritability

number given to each SNP for easy identification. You can
attempts to identify how much genetics play a role in part
use this number to search for more information from
of the population, for example being taller.
PL

public databases (HapMap or SNPedia) or from scientific

articles (Pubmed). Population means a group of individuals that may be
defined according to some shared characteristic, which
Bone mineral density (BMD) shows the amount of
may be social, cultural or physical (ethnic/racial
minerals such as calcium in the bones.
subgroup).
M

Body mass index (BMI) is a person's weight in kilograms

divided by the square of their height in meters. The BMI is
SA

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