23andMe Genetic Health Overview

8/2/12 23andMe Printable Report

1/23https://www.23andme.com/user/report/health/

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Printed on:

23andMe Genetic Health OverviewJOAKIM JARDENBERG

Aug 2, 2012

What this overview includes

This overview includes brief summaries of your 23andMe results for:

diseases for which you are at greater than average genetic risk,heritable diseases for which you carry one or more genetic variants(carrier status),and drugs to which you are likely to have an atypical response based ongenetics.

These results are based on your genetic data and any sex and ancestryinformation you have provided along with population-level risk data forspecified age ranges. They do not take into account non-genetic factors,family history, or additional genetic factors that may influence theseconditions. Only results for genetic associations that are scientifically wellestablished are included. This overview does not provide details regardingdiseases for which you are at typical or lower than average genetic risk,heritable diseases for which you aren't known to carry a variant, or drugs towhich you are likely to have a typical response. If you would like moreinformation on any of your 23andMe results, please go to that topic'sindividual report page on our website athttps://www.23andme.com/you/health/.



Overview of Genetic HealthJoakim Jardenberg

Year of Birth: 1966

Northern European

Disease risk results are

included in this overview only

if your risk based on genetics

is greater than 1%. Note that

certain conditions may have

genetic information applicable

only to specific populations.

Components of this test wereperformed in a clinical laboratoryregulated under the ClinicalLaboratory ImprovementAmendments of 1988 (CLIA) toperform high-complexity testing. Thedata provided are intended forinformational and educational useand are not for diagnostic use.*All conditions tested are listed at theend of the report. You may not havedata for every report.

Disease risk Your risk Average risk

Coronary Heart Disease 67.4% 46.8%

Venous Thromboembolism 41.8% 12.3%

Atrial Fibrillation 33.9% 27.2%

Age-related Macular Degeneration 11.9% 6.5%

Restless Legs Syndrome 2.5% 2.0%

Ulcerative Colitis 1.1% 0.8%

23 conditions* Typical or decreased risk

Carrier status Status

Congenital Disorder of Glycosylation Type 1a (PMM2-

CDG)

Variant Present

45 heritable conditions* Variant Absent

Drug response Response

Pseudocholinesterase Deficiency Increased

Warfarin (Coumadin®) Sensitivity Increased

6 other drugs* Typical

Response



How to read your reports



Coronary Heart Disease

Coronary heart disease (CHD), also called coronary artery disease, is a condition characterized by blockageof the arteries that supply the heart with blood. CHD can result in shortness of breath, chest pain (angina) andheart attack. It is a leading cause of death in both men and women worldwide. In the United States, about 1.2million people will have a heart attack each year, and many of those heart attacks will be fatal. Healthylifestyle choices play a major role in preventing CHD. If a heart attack does strike, prompt medical attentionis vital.

67.4%Joakim's risk ofdevelopingCoronary HeartDisease betweenthe ages specified

46.8%Chance that theaverage person willdevelop CoronaryHeart Disease

Joakim's Genetic Risk What is my risk based on?

45 - 79 Men

European ancestry

15 genetic markersrs10757278 (9p21 region), rs12526453(PHACTR1), rs1746048 (CXCL12), rs1122608(SMARCA4), rs9982601 (MRPS6), rs17465637(MIA3), rs6725887 (WDR12), rs2306374(MRAS), rs3798220 (LPA), rs11556924(ZC3HC1), rs579459 (ABO), rs12413409(CNNM2), rs964184 (APOA5), rs4773144(COL4A2), rs2895811 (HHIPL1)

Genes vs. Environment

Heritability for coronary heart disease ranges from 39% to 56%, depending on the exact subtype of heartdisease. This means that genetic factors and environmental factors contribute about equally to risk forcoronary heart disease. There is also evidence that genetic factors may contribute slightly more to risk ofdeath from coronary heart disease in men than they do in women. Genetic factors that play a role in coronaryheart disease include both unknown factors and known factors such as the SNPs we describe here. Otherfactors that increase your risk include being older, being male, being African-American, smoking, having highblood cholesterol or high blood pressure, physical inactivity, being overweight, having diabetes, alcohol use,and stress.

Additional Information

Symptoms

Treatment for heart attack is most effective when started within one hour of the beginning of symptoms,which can include:

chest discomfort or pain (uncomfortable pressure, squeezing, fullness that can recur and subside),upper body discomfort in one or both arms, the back, neck, jaw, or stomach,shortness of breath with or before chest discomfort,nausea or vomiting,lightheadedness/fainting,cold sweats.

If you or someone else experiences any of these symptoms and a heart attack is suspected, call 911 orseek medical help immediately.

Other Medical Conditions

High cholesterol, diabetes, and hypertension can all increase your risk for coronary heart disease and itscomplications. Your health care provider can work with you to treat these related conditions to keep yourheart healthy.

Lifestyle Factors

Keep a healthy diet: Eating right will help you keep your heart healthy, even if you have no underlying

1.44xcompared to

average



cardiovascular disease. The American Heart Association has numerous resources and tools to help you

make smart choices.

Exercise regularly: Having a sedentary lifestyle is a major risk factor for cardiovascular disease. For

healthy people, the American Heart Association recommends performing any moderate-to-vigorous

intensity aerobic activity for at least 30 minutes on most days of the week at 50-80% of your maximum

heart rate. You can accumulate 30 minutes in 10 or 15 minute sessions. It’s a good idea to consult your

health care provider before changing or beginning a new exercise regimen.

Don't smoke: Smoking greatly increases the risk of many cardiovascular diseases, including heart

attack.

View the full report online for links to resources, references, and more detailed genetic results and information.



Venous ThromboembolismVenous thromboembolism (VTE) encompasses two related conditions. The first, deep vein thrombosis or

DVT, is the formation of a blood clot in a vein deep within the body, usually in the legs. The second,

pulmonary embolism (PE), occurs if the clot breaks free and travels through the circulatory system to the

lungs. DVT always precedes PE. It is estimated that about 250,000 people are hospitalized with venous

thromboembolism in the United States each year, but the incidence is probably much higher as many cases

go undiagnosed. Pulmonary embolism is potentially life threatening if prompt medical attention is not

received. Therefore, recognizing the symptoms of venous thromboembolism and avoiding risk factors is of

paramount importance.

41.8%Joakim's risk of

developing Venous

Thromboembolism

between the ages

specified

12.3%Chance that the

average person will

develop Venous

Thromboembolism


0 - 79 Men

European ancestry

3 genetic markers

rs6025 (F5), i3002432 (F2), rs505922 (ABO)

Genes vs. EnvironmentThe heritability of venous thromboembolism is estimated to be 55%. This means that genetics (including

unknown factors and known ones such as the SNPs we describe here) and environment play nearly equal

roles in this condition. There are a number of environmental factors of various strengths that contribute to

venous thromboembolism. Strong risk factors include hip or leg fractures, hip or knee replacement, major

surgery or trauma, and spinal cord injury or surgery. Moderate risk factors include arthroscopic knee surgery,

having central venous lines, congestive heart or respiratory failure, hormone replacement or oral

contraceptive use, cancer, pregnancy, paralytic stroke, previous venous thromboembolism, and

thrombophilia. Weak risk factors include bed rest for more than three days, immobility due to sitting (such as

a long car or plane trip), specific types of chemotherapy, increasing age, laparoscopic surgery, obesity, and

varicose veins.


SymptomsSeek out medical attention immediately if you experience any of the following:

DVT (leg clot) symptoms:Swelling, usually in one leg

Leg pain or tenderness

Reddish or bluish skin discoloration

Leg warm to touch

PE (lung clot) symptoms:Sudden shortness of breath

Chest pain-sharp, stabbing; may get worse with deep breath

Rapid heart rate

Unexplained cough, sometimes with bloody mucus

Medications and Treatment

3.39xcompared to

average



Estrogen containing oral contraceptives and oral hormone replacement therapy are two commonly usedmedications that have been linked to increased clotting. Women taking these medications who also havegenetic changes in their clotting factors and/or inhibitors are at especially high risk. Read more in the OralContraceptives, Hormone Replacement Therapy and Risk of Venous Thromboembolism Drug ResponseReport.

Lifestyle FactorsDon't smoke: A large Danish study found that women who smoked had a 52% increased risk for venousthromboembolism compared with women who had never smoked. For men, smoking conferred a 32%increase in risk. Heavy smokers had even higher risks.Maintain a healthy weight: Obesity increases the risk of venous thromboembolism.Stay active: Venous thromboembolism is sometimes called "economy class syndrome" because sittingstill for long periods of time, as on a cramped airplane, can cause sluggish blood flow, which in turnincreases the risk for the formation of blood clots.




Atrial FibrillationAtrial fibrillation is characterized by chaotic electrical signals in the heart that cause the upper chambers(atria) to quiver. It is the most common type of sustained irregular heart rhythm, and while it is not usually lifethreatening on its own, it can have deadly complications. Atrial fibrillation can disturb smooth blood flow,increasing the risk of clots that can cause organ damage or stroke. The heart's ability to pump blood can alsodeteriorate, leading to heart failure. The most common causes of atrial fibrillation are heart abnormalities andheart muscle damage, but in at least 10 percent of cases there is no underlying heart disease that explainsthe condition.

33.9%Joakim's risk ofdeveloping AtrialFibrillationbetween the agesspecified

27.2%Chance that theaverage person willdevelop AtrialFibrillation


0 - 79 Men

European ancestry

2 genetic markersrs2200733 (4q25 (1)), rs10033464 (4q25 (2))

Genes vs. EnvironmentThe heritability of atrial fibrillation is estimated to be 62%. This means genetic factors contribute more todifferences in risk for this condition than environmental factors. Genetic contributions to atrial fibrillationinclude both unknown factors and known factors such as the SNPs described in this report. There are familialforms of atrial fibrillation caused by rare mutations, but most affected people do not have a family history ofthe condition. Non-genetic factors that can increase the risk of atrial fibrillation are age, obesity, stress,heavy alcohol or caffeine consumption, electrolyte imbalances, severe infections, diabetes and high bloodpressure.



If you have a history of heart disease (including heart valve problems or a history of heart attack or surgery)your health care provider may work with you to manage these diseases to lower your risk for atrialfibrillation. Other medical problems, such as hyperthyroidism and sleep apnea, can also increase your riskfor atrial fibrillation.


If you have atrial fibrillation, your health care provider may prescribe medications that help control yourheart rate and/or rhythm, or to prevent blood clots. If your atrial fibrillation cannot be controlled bymedications, your health care provider may suggest a surgical procedure as treatment.

Lifestyle Factors

Eat healthy: A healthy diet will help keep your heart healthy, even if you have no underlyingcardiovascular disease. The American Heart Association has numerous resources and tools to help youmake smart choices.Consume in moderation: Heavy drinking has been associated with increased risk for atrial fibrillation.


1.25xcompared to

average



Age-related Macular DegenerationAge-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the westernworld among people over 60. The disease affects the central part of the retina, which is critical for activitieslike reading, driving, or even recognizing faces. AMD can develop so slowly that some people may not evenrealize they have it, while others suffer a rapid loss of sight in both eyes. More than 1.7 million people in theU.S. have AMD (about 7% of people over 75). It is estimated that by 2020, almost 3 million people will havethe disease. Regular, comprehensive eye exams can detect the early signs of AMD. Though any vision that islost to the disease cannot be restored, there are treatments that can slow AMD's progress.

11.9%Joakim's risk ofdeveloping Age-related MacularDegenerationbetween the agesspecified

6.5%Chance that theaverage person willdevelop Age-related MacularDegeneration


43 - 79 Men

European ancestry

5 genetic markersrs1061147 (CFH), rs547154 (C2), rs3750847(LOC387715/ARMS2), rs2230199 (C3),rs9621532 (TIMP3)

Genes vs. EnvironmentEstimates of the heritability of AMD vary from 45% to 71%. This means that genetic factors contribute atleast as much as environmental factors do to risk of AMD. Genetic factors that play a role in AMD includeknown factors, such as the SNPs we describe here, and unknown factors. Established environmental riskfactors include age, family history of AMD, cigarette smoking, low dietary intake or blood levels of antioxidantvitamins and zinc, and European ancestry. Other possible risk factors may include being female, havinglight-colored irises, a history of cardiovascular disease, or increased exposure to sunlight.


Screening and Risk AssessmentRegular eye exams can help detect AMD early. Some websites have tools that can be used to check formacular degeneration. These tools do not replace an eye exam with a physician.

Lifestyle FactorsEat fruits and vegetables: Having a diet rich in fresh fruits and dark green, leafy vegetables may delayor reduce the severity of AMD.Eat fish and nuts: Eating fatty fish such as salmon, tuna or mackerel two to three times per week hasbeen shown to slow the progression of AMD. Nuts, which contain healthy omega-3 fatty acids, alsocontain copper, which may play a role in preventing age-related eye diseases.Avoid red meat: People who consume red meat 10 times per week or more have a 47% higher risk forAMD.Don't smoke: Smokers have two to three times increased risk for AMD compared to those who've neverlit up.


1.81xcompared to

average



Restless Legs SyndromeImagine what it would be like to crawl into bed every night, ready to catch some much-needed Zs, only to bestruck by an irrepressible urge to move your legs as soon as you began to relax. No matter how tired youwere, instead of drifting off peacefully, you would be compelled to get up and move around. It may soundcrazy, but this is exactly the situation people with restless legs syndrome (RLS) experience. Though thesymptoms in many people are milder, it is estimated that about 4% of the U.S. population suffers from thispuzzling disorder.

2.5%Joakim's risk ofdevelopingRestless LegsSyndrome betweenthe ages specified

2.0%Chance that theaverage person willdevelop RestlessLegs Syndrome


0 - 79 Men

European ancestry

1 genetic markersrs3923809 (BTBD9)

Genes vs. EnvironmentThe heritability of restless legs syndrome is estimated to be 54%. This means that genetic andenvironmental factors contribute nearly equally to differences in risk for this condition. Genetic factors thatplay a role in restless legs syndrome include both unknown factors and known factors such as the SNPs wedescribe here. Environmental factors include pregnancy. Low iron levels, dialysis for end-stage renaldisease, and damage to the nerves of the hands and feet tend to worsen the condition.



Chronic diseases such as kidney failure, diabetes, Parkinson's, and peripheral neuropathy can exacerbatesymptoms of RLS. If you have RLS, your health care provider may work with you to manage theseconditions to reduce your symptoms. Pregnancy can sometimes trigger symptoms of RLS. If this happens,the symptoms will usually disappear once the pregnancy is completed.

Lifestyle Factors

Limit caffeine, alcohol, and tobacco use: Caffeine, alcohol, and tobacco intake can trigger oraggravate symptoms in predisposed individuals.Get enough iron: Insufficient iron levels can also trigger or aggravate symptoms.


Taking certain drugs can sometimes cause symptoms of RLS. These symptoms usually disappear once thedrug regimen is stopped. Your health care provider can work with you to manage drug regimens that may betriggering RLS.


1.25xcompared to

average



Ulcerative ColitisUlcerative colitis is an inflammatory bowel disorder that causes chronic inflammation of the colon and

rectum. There are similarities between ulcerative colitis and Crohn’s disease, but the two conditions are

distinct. Symptoms of ulcerative colitis vary, with the most common being abdominal pain and diarrhea.

About 2 people out of every 1,000 are affected. A higher incidence of the disease is seen in people with

European or Jewish ancestry. The cause of ulcerative colitis is unknown and there is no cure. Treatments

can, however, calm inflammation and reduce symptoms.

1.1%Joakim's risk of

developing

Ulcerative Colitis

between the ages

specified

0.8%Chance that the

average person will

develop Ulcerative

Colitis


0 - 79 Men

European ancestry

4 genetic markers

rs2395185 (HLA-DRA), rs9858542 (BSN),

rs10883365 (NKX2-3), rs11209026 (IL23R)

Genes vs. EnvironmentThe heritability of ulcerative colitis is unknown, but is thought to be less than that of another form of

inflammatory bowel disease called Crohn's disease, which is 50-60% heritable. This means that

environmental factors probably contribute more to differences in risk for ulcerative colitis than genetic

factors. Genetic factors that play a role in ulcerative colitis include both unknown and known factors, such as

the SNPs we describe here. The environmental factors that contribute to ulcerative colitis are currently

unknown. Doctors do know that the condition is not caused by stress or sensitivity to certain foods or food

products, although both of these can aggravate symptoms in some people.


Screening and Risk AssessmentTalk to your health care provider if you experience symptoms. Certain medications and dietary changes

may alleviate symptoms and promote healing should you have the disease.

Environmental FactorsEnvironmental factors are believed to trigger onset of the disease and subsequent flares but few specifics

are known.


1.42xcompared to

average



Carrier status: Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)

Congenital disorder of glycosylation type 1a, now officially called PMM2-CDG, is caused by mutations in the

PMM2 gene, which encodes a PMM protein. PMM performs the very important function of attaching sugar

molecules to other proteins, a process called glycosylation. Glycosylation is needed for normal functioning

of many systems in the body, and mutations in PMM2, which impair this process, may cause a variety of

symptoms ranging from neurological problems to multi-organ failure. PMM2-CDG is an autosomal recessive

disorder and only occurs when a PMM2 mutation is inherited from each parent. About one out of 80,000

people with European ancestry is diagnosed with PMM2-CDG every year, with incidence being about four

times higher in those with Dutch or Danish ancestry. The condition is believed to be underdiagnosed.

Has one mutation in the PMM2 gene linked to PMM2-CDG1a. A person with one of these

mutations typically does not have PMM2-CDG, but can pass the mutation to offspring. May

have other mutations in the PMM2 gene (not reported here).

Gene Variant DNA change Joakim's genotype

PMM2 R141H G to A AG

Markers tested: 2 Coverage: > 50% in individuals with European ancestry

What does this test cover?

More than 80 mutations in the PMM2 gene causing PMM2-CDG have been documented.

23andMe reports data for the two most common disease-causing mutations which account for

more than 50% of the disease in individuals with European ancestry.

How is Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) inherited?

PMM2-CDG is inherited in a recessive manner, meaning that only a child who receives two

mutated copies of the PMM2 gene (one from each parent) will develop the disease.

How common is this condition?

Approximately one in 80,000 individuals with European ancestry is diagnosed with PMM2-CDG

each year. Incidence is about four times higher in those with Dutch or Danish ancestry.

Joakim's Genetic Results



Variant

Present



Drug response: Pseudocholinesterase DeficiencyCholine esters are a class of drugs used in medical procedures that require a person's muscles to betemporarily relaxed, such as general anesthesia with insertion of a breathing tube. Examples includesuccinylcholine (Scoline®, Anectine® and Quelicin®) and mivacurium (Mivacron®). Once one of thesedrugs is administered a patient has no muscle control, including breathing, until the drug wears off. Thisusually takes only about five minutes, but for some people the drugs' effects last longer due to a deficiencyof pseudocholinesterase, the enzyme that breaks down choline esters in the body.

One copy of one of the BCHE mutations reported by 23andMe. Increased risk for slightlyextended paralysis and apnea after treatment with choline ester drugs.Variants detected: Asp70Gly (A)

Gene Marker DNA change Joakim's genotype

BCHE Asp70Gly (A) T to C CT

BCHE Thr243Met (F1) G to A GG

BCHE Gly390Val (F2) C to A CC

Markers tested: 3

What does this test cover?

Mutations in the butyrylcholinesterase (BCHE) gene cause a deficiency in the enzyme thatnormally metabolizes choline ester drugs. 23andMe tests for three of the most commonmutations in the BCHE gene linked to pseudocholinesterase deficiency, the "A" or "atypical"version (rs1799807), the "F1" version (rs28933389), and the "F2" version (rs28933390). Read moreabout the genetics.



Symptoms

Normally, the effects of choline ester drugs wear off in about five minutes. In people withpseudocholinesterase deficiency the recovery can take as long as several hours. During this time, theyhave no muscle control and cannot breathe on their own. Most people never know that they havepseudocholinesterase deficiency unless they are treated with a choline ester drug, although in some casesa personal or family history of adverse drug reactions to choline ester compounds can be suggestive. Readmore about symptoms and management.


People with known pseudocholinesterase deficiency may wear a medic-alert bracelet that will notify healthcare professionals of increased risk from administration of succinycholine. Because cocaine is a cholineester compound, mutations in BCHE may increase risk for adverse effects from cocaine use, includingsudden cardiac death.

Other Risk Factors

Other variations in the BCHE gene not reported here can cause pseudocholinesterase deficiency. Inaddition, some variations also not reported here are associated with faster metabolism of choline esterdrugs. People with these variations may be resistant to the muscle-relaxing effects of choline esters. Non-genetic factors contributing to pseudocholinesterase deficiency include pregnancy, malnutrition, chronicinfections, cancer, liver disease, and other medications.

Increased






Drug response: Warfarin (Coumadin®) SensitivityEach time a doctor writes a prescription for warfarin (Coumadin ®), a blood thinner given to about two million

people each year in the United States, it's a guessing game. There is no "right" dose of the drug. Everyone is

different and it can take weeks of adjustment to find a patient's optimal amount of the medication. Too much

puts the patient at risk for bleeding. Too little can lead to clots and in turn, heart attack, stroke or even death.

A patient's optimal dose depends not only on age, size, other medications and even diet, but also to a large

extent on genetics.

Increased warfarin sensitivity. May require decreased warfarin dose.

Marker Joakim's Genotype

rs1799853 TT

rs1057910 AA

rs9923231 CC

Markers tested: 3 Genotype combination: CYP2C9 *2/*2, VKORC1 -1639/3673 GG

What does this test cover?Several genes involved in warfarin metabolism play prominent roles in the variable response to

warfarin. 23andMe tests for two variants in the CYP2C9 gene (*2, defined using rs1799853, and

*3, defined using rs1057910) that are associated with reduced ability to break down warfarin.

23andMe also tests for a variant near the VKORC1 gene (rs9923231) that is associated with

increased sensitivity to the drug. Read more about the genetics.



Other Risk Factors

Many other clinical and demographic factors affect the optimal warfarin dose for an individual, including

age, sex, weight, alcohol consumption, smoking status, ethnicity, vitamin K intake, and other medications.

Other genetic variations in other genes (not reported here) can also impact a person’s response to warfarin.

Only a medical professional can determine the optimal dose for an individual.


Warfarin can interact with other medications, including some antibiotics, non-steroidal anti-inflammatory

drugs, some antidepressants, cholesterol medications, and chemotherapy drugs. If you are taking one of

these drugs, your health care provider can help devise appropriate treatment plans.


Increased



Joakim Jardenberg's results for all conditions tested by 23andMeConditions and diseases tested by 23andMe: This list is continually expanding as new genetic associationsare discovered and reported. Please visit our website at https://www.23andme.com/health/all/ to view themost up-to-date list of conditions tested by 23andMe.

About Risk Estimates:23andMe reports results asgenotype-specific incidence, whichis an estimate of how manyindividuals in a population composedof people with a customer'sgenotype are expected to bediagnosed with a condition given aspecified ancestry and age range.These estimates are based on well-established genetic associationsreported in the biomedical literatureand do not account for non-geneticfactors, family history, or additionalgenetic factors that may modify acustomer's risk. The genotype-specific incidence estimatecombines the odds for a condition fora customer's genotypes at a set ofSNPs with data about diseaseincidence. For more information onhow 23andMe calculates theseestimates, please see our technicalpapers available athttps://www.23andme.com/howitworks/.

Disease risk (29) Your riskAveragerisk

Coronary Heart Disease 67.4% 46.8%

Venous Thromboembolism 41.8% 12.3%

Atrial Fibrillation 33.9% 27.2%

Age-related Macular Degeneration 11.9% 6.5%

Restless Legs Syndrome 2.5% 2.0%

Ulcerative Colitis 1.1% 0.8%

Celiac Disease 0.4% 0.1%

Bipolar Disorder 0.2% 0.1%

Scleroderma (Limited Cutaneous Type) 0.08% 0.07%

Breast Cancer Typical risk

Chronic Kidney Disease Typical risk

Colorectal Cancer Typical risk

Gallstones Typical risk

Lung Cancer Typical risk

Lupus (Systemic Lupus Erythematosus) Typical risk

Melanoma Typical risk

Obesity Typical risk

Primary Biliary Cirrhosis Typical risk

Psoriasis Typical risk

Type 2 Diabetes Typical risk

Crohn's Disease Decreased risk

Esophageal Squamous Cell Carcinoma(ESCC) Decreased risk

Exfoliation Glaucoma Decreased risk

Multiple Sclerosis Decreased risk

Parkinson's Disease Decreased risk



Prostate Cancer Decreased risk

Rheumatoid Arthritis Decreased risk

Stomach Cancer (Gastric Cardia

Adenocarcinoma) Decreased risk

Type 1 Diabetes Decreased risk

About Carrier Status:23andMe tests for specific genetic

variants that are strongly linked to a

number of inherited genetic

conditions. These variants are

typically the most common ones

linked to the condition. Certain

variants may be more common in

certain populations than others. The

absence of specific variants does not

rule out the possibility that a

customer may carry another variant

linked to the condition.

Carrier status (46) Status

Congenital Disorder of Glycosylation Type

1a (PMM2-CDG)

Variant Present

ARSACS Variant Absent

Agenesis of the Corpus Callosum with

Peripheral Neuropathy (ACCPN)

Variant Absent

Alpha-1 Antitrypsin Deficiency Variant Absent

Autosomal Recessive Polycystic Kidney

Disease

Variant Absent

Beta Thalassemia Variant Absent

Bloom's Syndrome Variant Absent

Canavan Disease Variant Absent

Connexin 26-Related Sensorineural

Hearing Loss

Variant Absent

Cystic Fibrosis Variant Absent

D-Bifunctional Protein Deficiency Variant Absent

DPD Deficiency Variant Absent

Dihydrolipoamide Dehydrogenase

Deficiency

Variant Absent

Factor XI Deficiency Variant Absent

Familial Dysautonomia Variant Absent

Familial Hypercholesterolemia Type B Variant Absent

Familial Hyperinsulinism (ABCC8-related) Variant Absent

Familial Mediterranean Fever Variant Absent

Fanconi Anemia (FANCC-related) Variant Absent

G6PD Deficiency Variant Absent

GRACILE Syndrome Variant Absent

Gaucher Disease Variant Absent

Glycogen Storage Disease Type 1a Variant Absent

Glycogen Storage Disease Type 1b Variant Absent

Hemochromatosis (HFE-related) Variant Absent

Hypertrophic Cardiomyopathy (MYBPC3

25bp-deletion)

Variant Absent

LAMB3-related Junctional Epidermolysis

Bullosa

Variant Absent

Leigh Syndrome, French Canadian Type Variant Absent



(LSFC)

Limb-girdle Muscular Dystrophy Variant Absent

Maple Syrup Urine Disease Type 1B Variant Absent

Medium-Chain Acyl-CoA Dehydrogenase(MCAD) Deficiency

Variant Absent

Mucolipidosis IV Variant Absent

Neuronal Ceroid Lipofuscinosis (CLN5-related)

Variant Absent

Neuronal Ceroid Lipofuscinosis (PPT1-related)

Variant Absent

Niemann-Pick Disease Type A Variant Absent

Nijmegen Breakage Syndrome Variant Absent

Pendred Syndrome Variant Absent

Phenylketonuria Variant Absent

Primary Hyperoxaluria Type 2 (PH2) Variant Absent

Rhizomelic Chondrodysplasia PunctataType 1 (RCDP1)

Variant Absent

Salla Disease Variant Absent

Sickle Cell Anemia & Malaria Resistance Variant Absent

Tay-Sachs Disease Variant Absent

Torsion Dystonia Variant Absent

Tyrosinemia Type I Variant Absent

Zellweger Syndrome Spectrum Variant Absent

About Drug Response:23andMe displays your likelyresponse to a number of drugsbased on genetic variants associatedwith differences in response. Thesemay be differences in sensitivity, inthe likelihood or severity of sideeffects, or differences in disease risktied to use of a drug. Only a medicalprofessional can determine whether adrug is right for a particular patient.The information contained in thisreport should not be used toindependently establish a drugregimen, or abolish or adjust anexisting course of treatment.

Drug response (8) Response

Pseudocholinesterase Deficiency Increased

Warfarin (Coumadin®) Sensitivity Increased

Abacavir Hypersensitivity Typical

Alcohol Consumption, Smoking and Riskof Esophageal Cancer

Typical

Clopidogrel (Plavix®) Efficacy Typical

Fluorouracil Toxicity Typical

Oral Contraceptives, HormoneReplacement Therapy and Risk of VenousThromboembolism

Not Applicable

Response to Hepatitis C Treatment Typical



References

Coronary Heart Disease

Broadbent HM et al. (2008) . "Susceptibility to coronary artery disease and diabetes is encoded by distinct,

tightly linked SNPs in the ANRIL locus on chromosome 9p." Hum. Mol. Genet. 17(6):806-14

Preuss M et al. (2010) . "Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-

Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000

cases and 60 000 controls." Circ Cardiovasc Genet 3(5):475-83

Clarke R et al. (2009) . "Genetic variants associated with Lp(a) lipoprotein level and coronary disease." N.

Engl. J. Med. 361(26):2518-28

Helgadottir A et al. (2007) . "A common variant on chromosome 9p21 affects the risk of myocardial

infarction." Science 316(5830):1491-3

Horne BD et al. (2008) . "Association of variation in the chromosome 9p21 locus with myocardial infarction

versus chronic coronary artery disease." Circ Cardiovasc Genet 1(2):85-92

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Venous Thromboembolism

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Smith et al. (2007) . "Association of genetic variations with nonfatal venous thrombosis in postmenopausalwomen." JAMA 297(5):489-98

Emmerich et al. (2001) . "Combined effect of factor V Leiden and prothrombin 20210A on the risk ofvenous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204controls. Study Group for Pooled-Analysis in Venous Thromboembolism." Thromb Haemost 86(3):809-16

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Poort et al. (1996) . "A common genetic variation in the 3'-untranslated region of the prothrombin gene isassociated with elevated plasma prothrombin levels and an increase in venous thrombosis." Blood88(10):3698-703.

Colucci et al. (2004) . "Hyperprothrombinemia associated with prothrombin G20210A mutation inhibitsplasma fibrinolysis through a TAFI-mediated mechanism." Blood 103(6):2157-61

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Trégouët DA et al. (2009) . "Common susceptibility alleles are unlikely to contribute as strongly as the FVand ABO loci to VTE risk: results from a GWAS approach." Blood 113(21):5298-303

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O'Donnell J et al. (2002) . "Amount of H antigen expressed on circulating von Willebrand factor is modifiedby ABO blood group genotype and is a major determinant of plasma von Willebrand factor antigen levels."Arterioscler. Thromb. Vasc. Biol. 22(2):335-41

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Atrial FibrillationKääb et al. (2009) . "Large scale replication and meta-analysis of variants on chromosome 4q25 associatedwith atrial fibrillation." Eur. Heart J. 30(7):813-9

Gudbjartsson et al. (2007) . "Variants conferring risk of atrial fibrillation on chromosome 4q25." Nature448(7151):353-7

Age-related Macular DegenerationMaller et al. (2006) . "Common variation in three genes, including a noncoding variant in CFH, stronglyinfluences risk of age-related macular degeneration." Nat Genet 38(9):1055-9

Johnson et al. (2006) . "Individuals homozygous for the age-related macular degeneration risk-conferringvariant of complement factor H have elevated levels of CRP in the choroid." Proc Natl Acad Sci U S A103(46):17456-61

Laine et al. (2007) . "Y402H polymorphism of complement factor H affects binding affinity to C-reactiveprotein." J Immunol 178(6):3831-6

Skerka et al. (2007) . "Defective complement control of factor H (Y402H) and FHL-1 in age-related maculardegeneration." Mol Immunol 44(13):3398-406

Conley et al. (2006) . "CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-relatedmaculopathy: AREDS and CHS cohorts and meta-analyses." Hum Mol Genet 15(21):3206-18

Sofat R et al. (2012) . "Complement factor H genetic variant and age-related macular degeneration: effectsize, modifiers and relationship to disease subtype." Int J Epidemiol 41(1):250-262



Maller et al. (2006) . "Common variation in three genes, including a noncoding variant in CFH, stronglyinfluences risk of age-related macular degeneration." Nat Genet 38(9):1055-9

Gold et al. (2006) . "Variation in factor B (BF) and complement component 2 (C2) genes is associated withage-related macular degeneration." Nat Genet 38(4):458-62

Yates et al. (2007) . "Complement C3 variant and the risk of age-related macular degeneration." N Engl JMed 357(6):553-61

Spencer et al. (2007) . "Protective effect of complement factor B and complement component 2 variants inage-related macular degeneration." Hum Mol Genet 16(16):1986-92

Kanda et al. (2007) . "A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is stronglyassociated with age-related macular degeneration." Proc Natl Acad Sci U S A 104(41):16227-32

Chen W et al. (2010) . "Genetic variants near TIMP3 and high-density lipoprotein-associated loci influencesusceptibility to age-related macular degeneration." Proc. Natl. Acad. Sci. U.S.A. 107(16):7401-6

Neale BM et al. (2010) . "Genome-wide association study of advanced age-related macular degenerationidentifies a role of the hepatic lipase gene (LIPC)." Proc. Natl. Acad. Sci. U.S.A. 107(16):7395-400

Park KH et al. (2009) . "Complement component 3 (C3) haplotypes and risk of advanced age-relatedmacular degeneration." Invest. Ophthalmol. Vis. Sci. 50(7):3386-93

McKay GJ et al. (2010) . "Complement component 3: an assessment of association with AMD and analysisof gene-gene and gene-environment interactions in a Northern Irish cohort." Mol. Vis. 16(None):194-9

Restless Legs SyndromeStefansson et al. (2007) . "A genetic risk factor for periodic limb movements in sleep." N Engl J Med357(7):639-47

Winkelmann et al. (2007) . "Genome-wide association study of restless legs syndrome identifies commonvariants in three genomic regions." Nat Genet 39(8):1000-1006

Collins et al. (2001) . "All in the family: the BTB/POZ, KRAB, and SCAN domains." Mol Cell Biol21(11):3609-15

Ulcerative ColitisSilverberg et al. (2009) . "Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study." Nat. Genet. 41(2):216-20

Franke et al. (2008) . "Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerativecolitis susceptibility." Nat. Genet. 40(11):1319-23

Franke et al. (2008) . "Replication of signals from recent studies of Crohn's disease identifies previouslyunknown disease loci for ulcerative colitis." Nat. Genet. 40(6):713-5

Parkes et al. (2007) . "Sequence variants in the autophagy gene IRGM and multiple other replicating locicontribute to Crohn's disease susceptibility." Nat. Genet. 39(7):830-2

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Fisher et al. (2008) . "Genetic determinants of ulcerative colitis include the ECM1 locus and five lociimplicated in Crohn's disease." Nat. Genet. 40(6):710-2

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Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)Matthijs G et al. (2000) . "Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia(CDG-Ia)." Hum. Mutat. 16(5):386-94

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