23andMe Printable Report Aug 2013 revision

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11-08-13 23andMe Printable Report https://www.23andme.com/user/report/health/ 1/26 Prepared for: Printed on: 23andMe Genetic Health Overview LUCIEN ENGELEN Aug 11, 2013 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 on genetics. These results are based on your genetic data and any sex and ancestry information you have provided along with population-level risk data for specified age ranges. They do not take into account non-genetic factors, family history, or additional genetic factors that may influence these conditions. Only results for genetic associations that are scientifically well established are included. This overview does not provide details regarding diseases 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 to which you are likely to have a typical response. If you would like more information on any of your 23andMe results, please go to that topic's individual report page on our website at https://www.23andme.com/you/health/ .

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The Database of 23andMe keeps getting richer, so over time results can change.

Transcript of 23andMe Printable Report Aug 2013 revision

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Prepared for:

Printed on:

23andMe Genetic Health OverviewLUCIEN ENGELEN

Aug 11, 2013

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/.

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Overview of Genetic HealthLucien EngelenYear of Birth: 1962 Multi-regional

Disease risk results areincluded in this overview onlyif your risk based on geneticsis greater than 1%. Note thatcertain conditions may havegenetic information applicableonly 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

Type 2 Diabetes 37.1% 25.7%

Prostate Cancer 29.1% 17.8%

Venous Thromboembolism 17.9% 12.3%

Restless Legs Syndrome 2.5% 2.0%

Exfoliation Glaucoma 2.2% 0.7%

25 conditions* Typical or decreased risk

Carrier status Status

Hemochromatosis (HFE-related) Variant Present

48 heritable conditions* Variant Absent

Drug response Response

Response to Hepatitis C Treatment Reduced

Warfarin (Coumadin®) Sensitivity Increased

8 other drugs* TypicalResponse

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How to read your reports

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Type 2 DiabetesThe most common type of diabetes, type 2 diabetes mellitus occurs when chronically high blood sugarlevels cause a breakdown of the body's natural response to eating sweets and starches. Left untreated, type2 diabetes can result in kidney failure, blindness, and circulatory problems that increase the risk of heartattack or stroke. In the United States, almost 21 million children and adults have diabetes, but the rate of newdiagnoses is increasing.

37.1%Lucien's risk ofdeveloping Type 2Diabetes betweenthe ages specified

25.7%Chance that theaverage person willdevelop Type 2Diabetes

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

20 - 79 Men

European ancestry

11 genetic markersrs7903146 (TCF7L2), rs1801282 (PPARG),rs5219 (KCNJ11), rs4402960 (IGF2BP2),rs1111875 (HHEX), rs4712523 (CDKAL1),rs13266634 (SLC30A8), rs10012946 (WFS1),rs2383208 (CDKN2A/B), rs2237892 (KCNQ1),rs1387153 (MTNR1B)

Genes vs. Environment

The heritability of type 2 diabetes is estimated to be 26%. This means that environmental factors contributemore to differences in risk for this condition than genetic factors. Genetic factors that play a role in type 2diabetes include both unknown factors and known factors such as the SNPs we describe here.Environmental factors include obesity, gestational diabetes, giving birth to at least one baby weighing ninepounds or more, high blood pressure, abnormal cholesterol levels, physical inactivity, polycystic ovariansyndrome, other clinical conditions associated with insulin resistance, a history of impaired glucosetolerance or impaired fasting glucose, and a history of cardiovascular disease.

Additional Information

Screening and Risk AssessmentThe American Diabetes Association recommends diabetes screening for everyone 45 years of age andolder, particularly those with a BMI greater than 25, and people younger than 45 who are overweight andwho also have other risk factors, such as a family history of the disease, high cholesterol or blood pressure,or a history of gestational diabetes. Testing can be a fasting blood glucose test, an oral glucose tolerancetest or a hemoglobin A1C test. Use the questionnaire available from Your Disease Risk to get an estimate ofyour risk for type 2 diabetes.

Lifestyle FactorsMaintain a healthy weight: The Diabetes Prevention Program found that people at high risk for diabeteswho exercised for 30 minutes five days a week and lowered their intake of fat and calories were able toreduce their weight by 5-7% and lower their risk of type 2 diabetes by 58%. You can use this BMI calculatorto determine if your weight is in the healthy range.

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

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Prostate CancerProstate cancer is by far the most common cancer affecting men. (Women don't have prostate glands andtherefore cannot get prostate cancer, but can pass markers to their children.) About one in six men willdevelop prostate cancer over their lifetimes, according to the American Cancer Society. Fortunately, mostprostate tumors grow slowly, and if detected early, treatment may help control their size. Until recently, theonly well-known risk factors for prostate cancer were age, ethnicity, and family history. Although advancedage increases a person's risk for any type of cancer, the involvement of ethnicity and family history suggeststhat there is a strong genetic component as well.

29.1%Lucien's risk ofdevelopingProstate Cancerbetween the agesspecified

17.8%Chance that theaverage person willdevelop ProstateCancer

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

35 - 79 Men

European ancestry

12 genetic markersrs1447295 (8q24 (region 1)), rs6983267 (8q24(region 3)), rs10505483 (8q24 (region 2)),rs1859962 (17q24.3 region), rs4430796(TCF2), rs10993994 (10q11.23), rs7127900(11p15.5), rs8102476 (19q13.2), rs12621278(ITGA6), rs17021918 (PDLIM5), rs10486567(JAZF1), rs1512268 (8p21.2)

Genes vs. Environment

The heritability of prostate cancer is estimated to be 42-57%. This means that genetic and environmentalfactors contribute nearly equally to differences in risk for this condition. (If you are a woman, you have nochance of getting this type of cancer, but if you have sons, their risk may be affected by what they inheritfrom you.) Genetic factors that play a role in prostate cancer include both unknown factors and knownfactors such as the SNPs we describe. Other factors that can increase your risk include being older, havingAfrican ancestry, or living in North America, Northwestern Europe, Australia, or the Caribbean islands. Theeffect of nationality may be tied to diet, as a diet high in red meat and high-fat dairy products, and low infruits and vegetables, may also put you at increased risk.

Additional Information

Screening and Risk AssessmentThe American Cancer Society recommends that men make the decision about whether or not to bescreened for prostate cancer in consultation with their health care providers. Controversy exists overwhether screening offers any benefits and whether these outweigh the harms of testing and treatment. Talkto your doctor about the pros and cons of screening starting at age 50, or earlier if you are African Americanor have a family history of the disease.

Lifestyle FactorsGet enough folate: The National Cancer Institute describes a 10-year study that showed that the risk ofprostate cancer was reduced in men who had enough folate (a B vitamin) in their diets. Note that riskwas increased in men who took supplements of folic acid, which is the synthetic form of folate.Balance your calcium intake: Some research has indicated that taking large doses of calciumsupplements or having a high intake of dairy products increases the risk for prostate cancer. Butcalcium is important for bone health and may play a role in preventing other cancers, so moderation, notcomplete avoidance of calcium, is recommended.What about tomatoes? Studies of whether a diet high in lycopene (the bright red pigment found intomatoes and other red fruits and vegetables) is linked to a decreased risk of prostate cancer have beeninconclusive. It has also not been proven that taking lycopene supplements decreases the risk ofprostate cancer.

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

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Venous ThromboembolismVenous thromboembolism (VTE) encompasses two related conditions. The first, deep vein thrombosis orDVT, 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 thelungs. DVT always precedes PE. It is estimated that about 250,000 people are hospitalized with venousthromboembolism in the United States each year, but the incidence is probably much higher as many casesgo undiagnosed. Pulmonary embolism is potentially life threatening if prompt medical attention is notreceived. Therefore, recognizing the symptoms of venous thromboembolism and avoiding risk factors is ofparamount importance.

17.9%Lucien's risk ofdeveloping VenousThromboembolismbetween the agesspecified

12.3%Chance that theaverage person willdevelop VenousThromboembolism

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

0 - 79 Men

European ancestry

3 genetic markersrs6025 (F5), i3002432 (F2), rs505922 (ABO)

Genes vs. Environment

The heritability of venous thromboembolism is estimated to be 55%. This means that genetics (includingunknown factors and known ones such as the SNPs we describe here) and environment play nearly equalroles in this condition. There are a number of environmental factors of various strengths that contribute tovenous thromboembolism. Strong risk factors include hip or leg fractures, hip or knee replacement, majorsurgery 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 oralcontraceptive use, cancer, pregnancy, paralytic stroke, previous venous thromboembolism, andthrombophilia. Weak risk factors include bed rest for more than three days, immobility due to sitting (such asa long car or plane trip), specific types of chemotherapy, increasing age, laparoscopic surgery, obesity, andvaricose veins.

Additional Information

SymptomsSeek out medical attention immediately if you experience any of the following:DVT (leg clot) symptoms:

Swelling, usually in one legLeg pain or tendernessReddish or bluish skin discolorationLeg warm to touch

PE (lung clot) symptoms:Sudden shortness of breathChest pain-sharp, stabbing; may get worse with deep breathRapid heart rateUnexplained cough, sometimes with bloody mucus

Medications and TreatmentEstrogen containing oral contraceptives and oral hormone replacement therapy are two commonly used

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medications 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.

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

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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%Lucien's risk ofdevelopingRestless LegsSyndrome betweenthe ages specified

2.0%Chance that theaverage person willdevelop RestlessLegs Syndrome

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

0 - 79 Men

European ancestry

1 genetic markersrs3923809 (BTBD9)

Genes vs. Environment

The 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.

Additional Information

Other Medical ConditionsChronic 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 FactorsLimit 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.

Medications and TreatmentTaking 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.

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

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Exfoliation GlaucomaGlaucoma is one of the most common causes of blindness in the United States and globally, accounting forabout 12% of the world's cases. It is caused by a buildup of fluid pressure inside the eye, which eventuallydamages the optic nerve and causes sight to deteriorate. Exfoliation glaucoma (sometimes called pseudo-exfoliation glaucoma) is a subtype of the disease that often results from exfoliation syndrome, a disorderwhich causes an accumulation of flaky, white material inside the eye that blocks fluid drainage. Exfoliationsyndrome affects about 10% of the population over 50, though some populations — especiallyScandinavians — have much higher rates of the condition.

2.2%Lucien's risk ofdevelopingExfoliationGlaucomabetween the agesspecified

0.7%Chance that theaverage person willdevelop ExfoliationGlaucoma

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

40 - 79 Men

European ancestry

1 genetic markersrs2165241 (LOXL1)

Genes vs. Environment

The heritability of exfoliation glaucoma has not been studied. However, the heritability of open-angleglaucoma, a broad category of the disease that includes many cases of exfoliation glaucoma, has beenestimated to be 13%. This means that environmental factors contribute more to differences in risk for thiscondition than genetic factors. Environmental factors that may increase the risk for glaucoma includediabetes, high blood pressure, heart disease, eye injury or disease and prolonged corticosteroid use.

Additional Information

Screening and Risk AssessmentSee the Glaucoma Research Foundation recommendations for screening. Anyone at high risk for glaucomashould be tested every year or two after the age of 35.

Family HistoryHaving an immediate family member with glaucoma increases your risk substantially. Use 23andMe'sFamily Health History tool to collect this important information.

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

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Carrier status: Hemochromatosis (HFE-related)Iron, an essential mineral, is absorbed via the intestines from food and is important for many bodily functionsincluding red blood cell formation and proper brain function. The iron absorption process must be tightlyregulated or else iron can accumulate in the body, possibly causing organ damage. Inherited forms of ironoverload, known as hereditary hemochromatosis (HH), are caused by mutations in genes that normally playimportant roles in regulating iron levels. This report includes three mutations in the HFE gene that aretypically found in people with European ancestry and are responsible for most cases of HH. HFE-related HHis inherited in a recessive manner, meaning that a person must receive a mutated copy of the HFE gene fromeach parent to have the condition. In Europeans, roughly one in 300 individuals has HFE-related HH and atleast one in 10 carries a mutation for the condition. Rates are even higher in certain European populationsincluding Irish, Norwegian and Australian. HFE-related HH is much rarer in Asian and African populations.

Has one mutation in the HFE gene linked to hemochromatosis. A person with one of thesemutations is not typically prone to higher levels of iron in the body, but can pass the mutationto offspring. May have other mutations in the HFE gene (not reported here).

Gene Variant DNA change Lucien's genotype

HFE H63D C to G CG

Markers tested: 3 Coverage: Up to 90%

What does this test cover?

There are several forms of hereditary hemochromatosis (HH). The most common form is causedby mutations in the HFE gene, of which more than 20 have been documented. 23andMe reportsdata for the three HFE mutations most commonly linked to hereditary hemochromatosis: thesevere C282Y mutation and the milder H63D and S65C mutations.

How is Hemochromatosis (HFE-related) inherited?

HFE-related hemochromatosis is inherited in a recessive manner, meaning that only a child whoreceives two mutated copies of the HFE gene (one from each parent) is at risk of developing thedisease.

How common is this condition?

HFE-related hereditary hemochromatosis is fairly common. Roughly 10-30% of people withEuropean ancestry carry one of the three HFE mutations reported here. About one in 300individuals has two HFE mutations and is at risk for iron overload; however, only a small fractionof individuals with two mutations go on to develop symptoms.

Lucien's Genetic Results

Additional Information

Other Risk FactorsMen with two mutated copies of the HFE gene are more likely to develop symptoms than pre-menopausalwomen due to the fact that women eliminate iron through menstruation, pregnancy, and childbirth.Advancing age also raises the likelihood of developing symptoms in those with two mutations. Expertsrecommend avoiding iron supplements and advise against taking vitamin C supplements or consumingvitamin C-rich juices with meals, as vitamin C aids in the absorption of iron. Alcohol can worsen liverdamage in people with hemochromatosis.

Other Medical ConditionsHemochromatosis can lead to liver disease, arthritis, heart problems, and diabetes. Alcohol can worsenliver damage in people with hemochromatosis.

VariantPresent

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Medications and TreatmentHemochromatosis is treatable and health complications can be avoided if caught early and managedproperly through lifestyle modifications. Blood removal on a regular basis (just like donating blood) is thestandard treatment. If you are concerned about hereditary hemochromatosis, please consult your healthcare provider or a genetic counselor.

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

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Drug response: Response to Hepatitis C TreatmentUnlike the flu virus, which the body is generally able to fight off completely, infection with the hepatitis Cvirus is often chronic. That means for most of the three to four million people worldwide who are newlyinfected each year the virus will persist in the liver, where it greatly increases risk for diseases includingcirrhosis and cancer. Even with the approval of new therapies, the current treatments still require six tonearly twelve months of drug regimes and they often cause severe side-effects. Worse yet, the treatmentsstill fail in over 25-40% of patients. In addition to several non-genetic factors that can impact treatmentsuccess, recent research has shown that DNA variations in and around the IL28B gene are associated withreduced chances of responding to certain hepatitis C treatments.

Moderately lower odds of responding to PEG-IFNalpha/RBV treatment for hepatitis C.

Marker Lucien's Genotype

rs8099917 GT

Markers tested: 1

What does this test cover?

23andMe tests for the SNP rs8099917 near the IL28B gene that has been linked to failure torespond to PEG-IFNalpha/RBV treatment in individuals with HCV. Read more about the genetics.

Lucien's Genetic Results

Additional Information

Other Risk FactorsResponse to PEG-IFNalpha/RBV treatment/protease inhibitor can also be affected by age, body massindex, gender, the amount of virus present in the body, and the genetic subtype of the virus itself. Ethnicityis a particularly strong predictor of PEG-IFNalpha/RBV treatment response—people with European ancestrytend to respond more favorably than African Americans, and people with Asian ancestry respond even morefavorably to treatment. Part of this may be due to genetic differences near the IL28B gene.

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

Reduced

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Drug response: Warfarin (Coumadin®) SensitivityEach time a doctor writes a prescription for warfarin (Coumadin ®), a blood thinner given to about two millionpeople each year in the United States, it's a guessing game. There is no "right" dose of the drug. Everyone isdifferent and it can take weeks of adjustment to find a patient's optimal amount of the medication. Too muchputs 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 largeextent on genetics.

Slightly increased warfarin sensitivity. May require decreased warfarin dose.

Marker Lucien's Genotype

rs1799853 CC

rs1057910 AA

rs9923231 CT

Markers tested: 3 Genotype combination: CYP2C9 *1/*1, VKORC1 -1639/3673 AG

What does this test cover?

Several genes involved in warfarin metabolism play prominent roles in the variable response towarfarin. 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 withincreased sensitivity to the drug. Read more about the genetics.

Lucien's Genetic Results

Additional Information

Other Risk FactorsMany other clinical and demographic factors affect the optimal warfarin dose for an individual, includingage, 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.

Medications and TreatmentWarfarin can interact with other medications, including some antibiotics, non-steroidal anti-inflammatorydrugs, some antidepressants, cholesterol medications, and chemotherapy drugs. If you are taking one ofthese drugs, your health care provider can help devise appropriate treatment plans.

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

Increased

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Lucien Engelen'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 (30) Your riskAveragerisk

Type 2 Diabetes 37.1% 25.7%

Prostate Cancer 29.1% 17.8%

Venous Thromboembolism 17.9% 12.3%

Restless Legs Syndrome 2.5% 2.0%

Exfoliation Glaucoma 2.2% 0.7%

Esophageal Squamous Cell Carcinoma(ESCC) 0.56% 0.36%

Stomach Cancer (Gastric CardiaAdenocarcinoma) 0.42% 0.23%

Atrial Fibrillation Typical risk

Bipolar Disorder Typical risk

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

Obesity Typical risk

Scleroderma (Limited Cutaneous Type) Typical risk

Age-related Macular Degeneration Decreased risk

Alzheimer's Disease Decreased risk

Celiac Disease Decreased risk

Coronary Heart Disease Decreased risk

Crohn's Disease Decreased risk

Melanoma Decreased risk

Multiple Sclerosis Decreased risk

Parkinson's Disease Decreased risk

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Primary Biliary Cirrhosis Decreased risk

Psoriasis Decreased risk

Rheumatoid Arthritis Decreased risk

Type 1 Diabetes Decreased risk

Ulcerative Colitis Decreased risk

About Carrier Status:23andMe tests for specific geneticvariants that are strongly linked to anumber of inherited geneticconditions. These variants aretypically the most common oneslinked to the condition. Certainvariants may be more common incertain populations than others. Theabsence of specific variants does notrule out the possibility that acustomer may carry another variantlinked to the condition.

Carrier status (49) Status

Hemochromatosis (HFE-related) Variant Present

ARSACS Variant Absent

Agenesis of the Corpus Callosum withPeripheral Neuropathy (ACCPN)

Variant Absent

Alpha-1 Antitrypsin Deficiency Variant Absent

Autosomal Recessive Polycystic KidneyDisease

Variant Absent

BRCA Cancer Mutations (Selected) Variant Absent

Beta Thalassemia Variant Absent

Bloom's Syndrome Variant Absent

Canavan Disease Variant Absent

Congenital Disorder of Glycosylation Type1a (PMM2-CDG)

Variant Absent

Connexin 26-Related SensorineuralHearing Loss

Variant Absent

Cystic Fibrosis Variant Absent

D-Bifunctional Protein Deficiency Variant Absent

DPD Deficiency Variant Absent

Dihydrolipoamide DehydrogenaseDeficiency

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

Hereditary Fructose Intolerance Variant Absent

Hypertrophic Cardiomyopathy (MYBPC3 Variant Absent

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25bp-deletion)

LAMB3-related Junctional EpidermolysisBullosa

Variant Absent

Leigh Syndrome, French Canadian Type(LSFC)

Variant Absent

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

TTR-Related Cardiac Amyloidosis 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 (10) Response

Response to Hepatitis C Treatment Reduced

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

Phenytoin (Dilantin®) Sensitivity (EpilepsyDrug)

Typical

Pseudocholinesterase Deficiency Typical

Thiopurine Methyltransferase Deficiency Typical

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ReferencesType 2 Diabetes

Grant et al. (2006) . "Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes."Nat Genet 38(3):320-3

Saxena et al. (2006) . "Common single nucleotide polymorphisms in TCF7L2 are reproducibly associatedwith type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals." Diabetes55(10):2890-5

Helgason et al. (2007) . "Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptiveevolution." Nat Genet 39(2):218-225

Sladek et al. (2007) . "A genome-wide association study identifies novel risk loci for type 2 diabetes."Nature 445(7130):881-5

Saxena et al. (2007) . "Genome-wide association analysis identifies loci for type 2 diabetes and triglyceridelevels." Science 316(5829):1331-6

Zeggini et al. (2007) . "Replication of genome-wide association signals in UK samples reveals risk loci fortype 2 diabetes." Science 316(5829):1336-41

Scott et al. (2007) . "A genome-wide association study of type 2 diabetes in Finns detects multiplesusceptibility variants." Science 316(5829):1341-5

Horikoshi et al. (2007) . "A genetic variation of the transcription factor 7-like 2 gene is associated with riskof type 2 diabetes in the Japanese population." Diabetologia Jan 24

Munoz et al. (2006) . "Polymorphism in the transcription factor 7-like 2 (TCF7L2) gene is associated withreduced insulin secretion in nondiabetic women." Diabetes 55(12):3630-4

Shaat et al. (2007) . "A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with anincreased risk of gestational diabetes mellitus." Diabetologia 50(5):972-9

Wellcome Trust Case Control Consortium (2007) . "Genome-wide association study of 14,000 cases ofseven common diseases and 3,000 shared controls." Nature 447(7145):661-78

Hayashi et al. (2007) . "Replication study for the association of TCF7L2 with susceptibility to type 2diabetes in a Japanese population." Diabetologia 50(5):980-4

Sale et al. (2007) . "Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2diabetes in an African-American population enriched for nephropathy." Diabetes 56(10):2638-42

Ng et al. (2008) . "Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B,IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians." Diabetes 57(8):2226-33

Miyake et al. (2008) . "Association of TCF7L2 polymorphisms with susceptibility to type 2 diabetes in 4,087Japanese subjects." J Hum Genet 53(2):174-80

Altshuler et al. (2000) . "The common PPARgamma Pro12Ala polymorphism is associated with decreasedrisk of type 2 diabetes." Nat Genet 26(1):76-80

Deeb et al. (1998) . "A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity,lower body mass index and improved insulin sensitivity." Nat Genet 20(3):284-7

Tontonoz et al. (1994) . "Stimulation of adipogenesis in fibroblasts by PPAR gamma 2, a lipid-activatedtranscription factor." Cell 79(7):1147-56

Ek et al. (2001) . "Studies of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma2 (PPAR-gamma2) gene in relation to insulin sensitivity among glucose tolerant caucasians."Diabetologia 44(9):1170-6

Hara et al. (2000) . "The Pro12Ala polymorphism in PPAR gamma2 may confer resistance to type 2diabetes." Biochem Biophys Res Commun 271(1):212-6

Mori et al. (2001) . "The Pro12 -->Ala substitution in PPAR-gamma is associated with resistance todevelopment of diabetes in the general population: possible involvement in impairment of insulin secretionin individuals with type 2 diabetes." Diabetes 50(4):891-4

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Moon et al. (2005) . "Genetic polymorphisms in peroxisome proliferator-activated receptor gamma areassociated with Type 2 diabetes mellitus and obesity in the Korean population." Diabet Med 22(9):1161-6

Nielsen et al. (2003) . "The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulinresponse and increased risk of type 2 diabetes." Diabetes 52(2):573-7

Misler et al. (1992) . "Electrophysiology of stimulus-secretion coupling in human beta-cells." Diabetes41(10):1221-8

Shaat et al. (2005) . "Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetesmellitus." Diabetologia 48(12):2544-51

Sakamoto et al. (2007) . "SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes andblood pressure levels in the Japanese population." J Hum Genet 52(10):781-93

Omori et al. (2008) . "Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 withsusceptibility to type 2 diabetes in a Japanese population." Diabetes 57(3):791-5

Nielsen et al. (1999) . "A family of insulin-like growth factor II mRNA-binding proteins represses translationin late development." Mol Cell Biol 19(2):1262-70

Rodriguez et al. (2007) . "Molecular genetics of human growth hormone, insulin-like growth factors andtheir pathways in common disease." Hum Genet 122(1):1-21

Ukkola et al. (2001) . "Insulin-like growth factor 2 (IGF2) and IGF-binding protein 1 (IGFBP1) gene variantsare associated with overfeeding-induced metabolic changes." Diabetologia 44(12):2231-6

Heald et al. (2006) . "Low insulin-like growth factor-II levels predict weight gain in normal weight subjectswith type 2 diabetes." Am J Med 119(2):167.e9-15

Martin et al. (2006) . "Associations of adiposity from childhood into adulthood with insulin resistance andthe insulin-like growth factor system: 65-year follow-up of the Boyd Orr Cohort." J Clin Endocrinol Metab91(9):3287-95

Li X et al. (2009) . "Variation in IGF2BP2 interacts with adiposity to alter insulin sensitivity in MexicanAmericans." Obesity (Silver Spring) 17(4):729-36

Bort et al. (2006) . "Hex homeobox gene controls the transition of the endoderm to a pseudostratified, cellemergent epithelium for liver bud development." Dev Biol 290(1):44-56

Bort et al. (2004) . "Hex homeobox gene-dependent tissue positioning is required for organogenesis of theventral pancreas." Development 131(4):797-806

Marlowe et al. (2006) . "Insulin-degrading enzyme haplotypes affect insulin levels but not dementia risk."Neurodegener Dis 3(6):320-6

Pascoe L et al. (2007) . "Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE areassociated with decreased pancreatic beta-cell function." Diabetes 56(12):3101-4

Lin Y et al. (2010) . "Association study of genetic variants in eight genes/loci with type 2 diabetes in a HanChinese population." BMC Med. Genet. 11:97

Takeuchi F et al. (2009) . "Confirmation of multiple risk Loci and genetic impacts by a genome-wideassociation study of type 2 diabetes in the Japanese population." Diabetes 58(7):1690-9

Steinthorsdottir et al. (2007) . "A variant in CDKAL1 influences insulin response and risk of type 2diabetes." Nat Genet 39(6):770-5

Ubeda et al. (2006) . "Inhibition of cyclin-dependent kinase 5 activity protects pancreatic beta cells fromglucotoxicity." J Biol Chem 281(39):28858-64

Chimienti et al. (2004) . "Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localizedinto insulin secretory granules." Diabetes 53(9):2330-7

Chimienti et al. (2006) . "In vivo expression and functional characterization of the zinc transporter ZnT8 inglucose-induced insulin secretion." J Cell Sci 119(Pt 20):4199-206

Sandhu et al. (2007) . "Common variants in WFS1 confer risk of type 2 diabetes." Nat Genet 39(8):951-3

Franks et al. (2007) . "Replication of the association between variants in WFS1 and risk of type 2 diabetes in

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European populations." Diabetologia 51(3):458-63

Inoue et al. (1998) . "A gene encoding a transmembrane protein is mutated in patients with diabetesmellitus and optic atrophy (Wolfram syndrome)." Nat Genet 20(2):143-8

Yamada et al. (2006) . "WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycleprogression and triggers the apoptotic pathway specifically in pancreatic beta-cells." Hum Mol Genet15(10):1600-9

Karasik et al. (1989) . "Genetically programmed selective islet beta-cell loss in diabetic subjects withWolfram's syndrome." Diabetes Care 12(2):135-8

Yamauchi T et al. (2010) . "A genome-wide association study in the Japanese population identifiessusceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B." Nat. Genet. 42(10):864-8

Hu C et al. (2009) . "Variations in KCNQ1 are associated with type 2 diabetes and beta cell function in aChinese population." Diabetologia 52(7):1322-5

Yasuda K et al. (2008) . "Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus."Nat. Genet. 40(9):1092-7

Unoki H et al. (2008) . "SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asianand European populations." Nat. Genet. 40(9):1098-102

Jespersen T et al. (2005) . "The KCNQ1 potassium channel: from gene to physiological function."Physiology (Bethesda) 20:408-16

Voight BF et al. (2010) . "Twelve type 2 diabetes susceptibility loci identified through large-scaleassociation analysis." Nat. Genet. 42(7):579-89

Bouatia-Naji N et al. (2009) . "A variant near MTNR1B is associated with increased fasting plasma glucoselevels and type 2 diabetes risk." Nat. Genet. 41(1):89-94

Prokopenko I et al. (2009) . "Variants in MTNR1B influence fasting glucose levels." Nat. Genet. 41(1):77-81

Peschke E (2008) . "Melatonin, endocrine pancreas and diabetes." J. Pineal Res. 44(1):26-40

Prostate Cancer

Amundadottir et al. (2006) . "A common variant associated with prostate cancer in European and Africanpopulations." Nat Genet 38(6):652-8

Freedman et al. (2006) . "Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men." Proc Natl Acad Sci U S A 103(38):14068-73

Severi et al. (2007) . "The common variant rs1447295 on chromosome 8q24 and prostate cancer risk:results from an Australian population-based case-control study." Cancer Epidemiol Biomarkers Prev16(3):610-2

Yeager et al. (2007) . "Genome-wide association study of prostate cancer identifies a second risk locus at8q24." Nat Genet 39(5):645-9

Gudmundsson et al. (2007) . "Genome-wide association study identifies a second prostate cancersusceptibility variant at 8q24." Nat Genet 39(5):631-7

Wang et al. (2007) . "Two common chromosome 8q24 variants are associated with increased risk forprostate cancer." Cancer Res 67(7):2944-50

Schumacher et al. (2007) . "A common 8q24 variant in prostate and breast cancer from a large nestedcase-control study." Cancer Res 67(7):2951-2956

Suuriniemi et al. (2007) . "Confirmation of a positive association between prostate cancer risk and a locusat chromosome 8q24." Cancer Epidemiol Biomarkers Prev 16(4):809-14

Cheng et al. (2008) . "8q24 and prostate cancer: association with advanced disease and meta-analysis."Eur J Hum Genet 16(4):496-505

Zheng et al. (2008) . "Cumulative association of five genetic variants with prostate cancer." N Engl J Med358(9):910-9

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Zheng et al. (2007) . "Association between two unlinked loci at 8q24 and prostate cancer risk amongEuropean Americans." J Natl Cancer Inst 99(20):1525-33

Haiman et al. (2007) . "Multiple regions within 8q24 independently affect risk for prostate cancer." NatGenet 39(5):638-44

Witte et al. (2007) . "Multiple prostate cancer risk variants on 8q24." Nat Genet 39(5):579-80

Robbins et al. (2007) . "Confirmation study of prostate cancer risk variants at 8q24 in African Americansidentifies a novel risk locus." Genome Res 17(12):1717-22

Takata R et al. (2010) . "Genome-wide association study identifies five new susceptibility loci for prostatecancer in the Japanese population." Nat. Genet. 42(9):751-4

Gudmundsson et al. (2007) . "Two variants on chromosome 17 confer prostate cancer risk, and the one inTCF2 protects against type 2 diabetes." Nat Genet 39(8):977-83

Xu J et al. (2009) . "Prostate cancer risk associated loci in African Americans." Cancer Epidemiol.Biomarkers Prev. 18(7):2145-9

Waters KM et al. (2009) . "Generalizability of associations from prostate cancer genome-wide associationstudies in multiple populations." Cancer Epidemiol. Biomarkers Prev. 18(4):1285-9

Eeles RA et al. (2008) . "Multiple newly identified loci associated with prostate cancer susceptibility." Nat.Genet. 40(3):316-21

Chang BL et al. (2009) . "Fine mapping association study and functional analysis implicate a SNP in MSMBat 10q11 as a causal variant for prostate cancer risk." Hum. Mol. Genet. 18(7):1368-75

Thomas G et al. (2008) . "Multiple loci identified in a genome-wide association study of prostate cancer."Nat. Genet. 40(3):310-5

Kote-Jarai Z et al. (2008) . "Multiple novel prostate cancer predisposition loci confirmed by an internationalstudy: the PRACTICAL Consortium." Cancer Epidemiol. Biomarkers Prev. 17(8):2052-61

Lou H et al. (2009) . "Fine mapping and functional analysis of a common variant in MSMB on chromosome10q11.2 associated with prostate cancer susceptibility." Proc. Natl. Acad. Sci. U.S.A. 106(19):7933-8

Eeles RA et al. (2009) . "Identification of seven new prostate cancer susceptibility loci through a genome-wide association study." Nat. Genet. 41(10):1116-21

Gudmundsson J et al. (2009) . "Genome-wide association and replication studies identify four variantsassociated with prostate cancer susceptibility." Nat. Genet. 41(10):1122-6

Prokunina-Olsson L et al. (2010) . "Refining the prostate cancer genetic association within the JAZF1 geneon chromosome 7p15.2." Cancer Epidemiol. Biomarkers Prev. 19(5):1349-55

Venous Thromboembolism

Rosendaal et al. (1995) . "High risk of thrombosis in patients homozygous for factor V Leiden (activatedprotein C resistance)." Blood 85(6):1504-8

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

Bertina et al. (1994) . "Mutation in blood coagulation factor V associated with resistance to activated proteinC." Nature 369(6475):64-7

Lane et al. (2000) . "Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease."Blood 95(5):1517-32

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 inhibits

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plasma fibrinolysis through a TAFI-mediated mechanism." Blood 103(6):2157-61

Wolberg et al. (2003) . "Elevated prothrombin results in clots with an altered fiber structure: a possiblemechanism of the increased thrombotic risk." Blood 101(8):3008-13

Kyrle et al. (1998) . "Clinical studies and thrombin generation in patients homozygous or heterozygous forthe G20210A mutation in the prothrombin gene." Arterioscler Thromb Vasc Biol 18(8):1287-91

Heit JA et al. (2011) . "Genetic variation within the anticoagulant, procoagulant, fibrinolytic and innateimmunity pathways as risk factors for venous thromboembolism." J. Thromb. Haemost. 9(6):1133-42

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

Germain M et al. (2011) . "Genetics of venous thrombosis: insights from a new genome wide associationstudy." PLoS ONE 6(9):e25581

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

Miñano A et al. (2008) . "AB0 blood group and risk of venous or arterial thrombosis in carriers of factor VLeiden or prothrombin G20210A polymorphisms." Haematologica 93(5):729-34

Restless Legs Syndrome

Stefansson 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

Exfoliation Glaucoma

Thorleifsson et al. (2007) . "Common sequence variants in the LOXL1 gene confer susceptibility toexfoliation glaucoma." Science 317(5843):1397-400

Pasutto et al. (2008) . "Association of LOXL1 common sequence variants in German and Italian patientswith pseudoexfoliation syndrome and pseudoexfoliation glaucoma." Invest. Ophthalmol. Vis. Sci.49(4):1459-63

Aragon-Martin et al. (2008) . "Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome andexfoliation glaucoma." Mol Vis. 14:533-41

Challa et al. (2008) . "Analysis of LOXL1 polymorphisms in a United States population withpseudoexfoliation glaucoma." Mol Vis. 14:146-9

Tanito et al. (2008) . "LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma,primary open-angle glaucoma, normal tension glaucoma, and cataract." Mol Vis. 14:1898-905

Ozaki et al. (2008) . "Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese."Invest. Ophthalmol. Vis. Sci. 49(9):3976-80

Ringvold (1999) . "Epidemiology of the pseudo-exfoliation syndrome." Acta Ophthalmol Scand 77(4):371-5

Hemochromatosis (HFE-related)

Bacon BR et al. (2011) . "Diagnosis and management of hemochromatosis: 2011 practice guideline by theAmerican Association for the Study of Liver Diseases." Hepatology 54(1):328-43

Moyer TP et al. (2011) . "Hereditary hemochromatosis: laboratory evaluation." Clin. Chim. Acta 412(17-18):1485-92

Adams and Barton (2007) . "Haemochromatosis." Lancet 370(9602):1855-60

Frazer and Anderson (2005) . "Iron imports. I. Intestinal iron absorption and its regulation." Am. J. Physiol.Gastrointest. Liver Physiol. 289(4):G631-5

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Fleming and Britton (2006) . "Iron Imports. VI. HFE and regulation of intestinal iron absorption." Am. J.Physiol. Gastrointest. Liver Physiol. 290(4):G590-4

Swinkels et al. (2006) . "Hereditary hemochromatosis: genetic complexity and new diagnosticapproaches." Clin. Chem. 52(6):950-68

Allen et al. (2008) . "Iron-overload-related disease in HFE hereditary hemochromatosis." N. Engl. J. Med.358(3):221-30

Feder et al. (1996) . "A novel MHC class I-like gene is mutated in patients with hereditaryhaemochromatosis." Nat. Genet. 13(4):399-408

Naugler (2008) . "Hemochromatosis: a Neolithic adaptation to cereal grain diets." Med. Hypotheses70(3):691-2

Distante et al. (2004) . "The origin and spread of the HFE-C282Y haemochromatosis mutation." Hum.Genet. 115(4):269-79

Datz et al. (1998) . "Heterozygosity for the C282Y mutation in the hemochromatosis gene is associatedwith increased serum iron, transferrin saturation, and hemoglobin in young women: a protective roleagainst iron deficiency?" Clin. Chem. 44(12):2429-32

Response to Hepatitis C Treatment

Suppiah V (2009) . "IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirintherapy." Nat. Genet. 41(10):1100-4

Ge D (2009) . "Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance." Nature461(7262):399-401

Tanaka Y (2009) . "Genome-wide association of IL28B with response to pegylated interferon-alpha andribavirin therapy for chronic hepatitis C." Nat. Genet. 41(10):1105-9

Warfarin (Coumadin®) Sensitivity

International Warfarin Pharmacogenetics Consortium et al. (2009) . "Estimation of the warfarin dose withclinical and pharmacogenetic data." N. Engl. J. Med. 360(8):753-64

Budnitz et al. (2007) . "Medication use leading to emergency department visits for adverse drug events inolder adults." Ann. Intern. Med. 147(11):755-65

Rieder et al. (2005) . "Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose." N.Engl. J. Med. 352(22):2285-93

Wadelius et al. (2007) . "Association of warfarin dose with genes involved in its action and metabolism."Hum. Genet. 121(1):23-34

Zhu et al. (2007) . "Estimation of warfarin maintenance dose based on VKORC1 (-1639 G>A) and CYP2C9genotypes." Clin. Chem. 53(7):1199-205

Aquilante et al. (2006) . "Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1,and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements." Clin. Pharmacol. Ther.79(4):291-302

Gage et al. (2008) . "Use of pharmacogenetic and clinical factors to predict the therapeutic dose ofwarfarin." Clin. Pharmacol. Ther. 84(3):326-31

Aithal et al. (1999) . "Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin doserequirement and risk of bleeding complications." Lancet 353(9154):717-9

Peyvandi et al. (2004) . "CYP2C9 genotypes and dose requirements during the induction phase of oralanticoagulant therapy." Clin. Pharmacol. Ther. 75(3):198-203

Hillman et al. (2004) . "Relative impact of covariates in prescribing warfarin according to CYP2C9genotype." Pharmacogenetics 14(8):539-47

Veenstra et al. (2005) . "CYP2C9 haplotype structure in European American warfarin patients andassociation with clinical outcomes." Clin. Pharmacol. Ther. 77(5):353-64

Wang et al. (2008) . "Genetic factors contribute to patient-specific warfarin dose for Han Chinese." Clin.

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Chim. Acta 396(1-2):76-9

Limdi et al. (2008) . "VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose amongAfrican-Americans and European-Americans." Pharmacogenomics 9(10):1445-58

Oldenburg et al. (2007) . "VKORC1: molecular target of coumarins." J Thromb Haemost. 5 Suppl 1:1-6

Yuan et al. (2005) . "A novel functional VKORC1 promoter polymorphism is associated with inter-individualand inter-ethnic differences in warfarin sensitivity." Hum. Mol. Genet. 14(13):1745-51

Takeuchi et al. (2009) . "A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 asprincipal genetic determinants of warfarin dose." PLoS Genet. 5(3):e1000433

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About the 23andMe Personal Genome Service®

23andMe's Personal Genome Service provides customers with data on nearly 1,000,000 single nucleotidepolymorphisms (SNPs) in their genome using a microarray-based genotyping assay. Customers providesaliva samples, which are analyzed by a CLIA-certified laboratory. Results are viewable on the 23andMewebsite at https://www.23andme.com/you/ where reports are considered Established or PreliminaryResearch reports depending on the amount of evidence supporting the associations reported. We currentlyprovide more than 60 Established Research reports on various disease risk, drug response, and carrier statustopics, as well as Preliminary Research reports on more than 150 conditions and traits.