23andme Printable Report Aug 2013 Revision

23andMe Genetic Health Overview
Prepared for:
LUCIEN ENGELEN
Printed on:
Jul 7, 2016
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,
inherited conditions for which you carry one or more genetic variants
(carrier status),
and drugs to which you may 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/.
Overview of Genetic Health

Lucien Engelen
Year of Birth: 1962
Multi-regional
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.
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%
Components of this test were

performed in a clinical laboratory
regulated under the Clinical
Laboratory Improvement
Amendments of 1988 (CLIA) to
perform high-complexity testing. The
data provided are intended for
informational and educational use
and are not for diagnostic use.
Restless Legs Syndrome
2.5%
2.0%
Exfoliation Glaucoma
2.2%
0.7%
26 conditions*
Typical or decreased risk
*All conditions tested are listed at the

end of the report. You may not have
data for every report.
Inherited Conditions
Status
Hemochromatosis (HFE-related)
Variant Present
52 heritable conditions*
Variant Absent
Drug Response
Response
Hepatitis C Treatment Response
Reduced
Proton Pump Inhibitor (PPI) Metabolism (CYP2C19related)
Rapid
10 other drugs*
Typical
Response
How to read your reports
Type 2 Diabetes
The most common type of diabetes, type 2 diabetes mellitus occurs when chronically high blood sugar levels
cause a breakdown of the body's natural response to eating sweets and starches. Left untreated, type 2
diabetes can result in kidney failure, blindness, and circulatory problems that increase the risk of heart attack
or stroke. In the United States, almost 21 million children and adults have diabetes, but the rate of new
diagnoses is increasing.
What is my risk based on?
Lucien's Genetic Risk
37.1%
25.7%
Lucien's risk of
developing Type 2
Diabetes between
the ages specified
Chance that the

average person will
develop Type 2
Diabetes
1.44x
20 - 79
Male
European ancestry
11 genetic markers
rs7903146 (TCF7L2), rs1801282 (PPARG),
rs5219 (KCNJ11), rs4402960 (IGF2BP2),
rs1111875 (HHEX), rs4712523 (CDKAL1),
rs13266634 (SLC30A8), rs10012946 (WFS1),
rs2383208 (CDKN2A/B), rs2237892 (KCNQ1),
rs1387153 (MTNR1B)
compared to
average
Understanding Your Results

The heritability of type 2 diabetes is estimated to be 26%. This means that environmental factors contribute
more to dierences in risk for this condition than genetic factors. Genetic factors that play a role in type 2
diabetes 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 nine
pounds or more, high blood pressure, abnormal cholesterol levels, physical inactivity, polycystic ovarian
syndrome, other clinical conditions associated with insulin resistance, a history of impaired glucose tolerance
or impaired fasting glucose, and a history of cardiovascular disease.
View the full report online for links to resources, references, and more detailed genetic results and information.
Prostate Cancer
Prostate cancer is by far the most common cancer aecting men. (Women don't have prostate glands and
therefore cannot get prostate cancer, but can pass markers to their children.) About one in six men will
develop prostate cancer over their lifetimes, according to the American Cancer Society. Fortunately, most
prostate tumors grow slowly, and if detected early, treatment may help control their size. Until recently, the
only well-known risk factors for prostate cancer were age, ethnicity, and family history. Although advanced
age increases a person's risk for any type of cancer, the involvement of ethnicity and family history suggests
that there is a strong genetic component as well.
29.1%
17.8%
Lucien's risk of
developing
Prostate Cancer
between the ages
specified
Chance that the

average person will
develop Prostate
Cancer
1.63x
35 - 79
Male
European ancestry
12 genetic markers
rs1447295 (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)
compared to
average

The heritability of prostate cancer is estimated to be 42-57%. This means that genetic and environmental
factors contribute nearly equally to dierences in risk for this condition. (If you are a woman, you have no
chance of getting this type of cancer, but if you have sons, their risk may be aected by what they inherit
from you.) Genetic factors that play a role in prostate cancer include both unknown factors and known
factors such as the SNPs we describe. Other factors that can increase your risk include being older, having
African ancestry, or living in North America, Northwestern Europe, Australia, or the Caribbean islands. The
eect of nationality may be tied to diet, as a diet high in red meat and high-fat dairy products, and low in
fruits and vegetables, may also put you at increased risk.
Venous 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.
17.9%
12.3%
Lucien's risk of
developing Venous
Thromboembolism
between the ages
specified
Chance that the

average person will
develop Venous
Thromboembolism
0 - 79
Male
European ancestry
3 genetic markers
rs6025 (F5), i3002432 (F2), rs505922 (ABO)
1.45x
compared to
average

The 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.

Imagine what it would be like to crawl into bed every night, ready to catch some much-needed Zs, only to be
struck by an irrepressible urge to move your legs as soon as you began to relax. No matter how tired you
were, instead of drifting o peacefully, you would be compelled to get up and move around. It may sound
crazy, but this is exactly the situation people with restless legs syndrome (RLS) experience. Though the
symptoms in many people are milder, it is estimated that about 4% of the U.S. population suers from this
puzzling disorder.
2.5%
2.0%
Lucien's risk of
developing
Restless Legs
Syndrome between
the ages specified
Chance that the

average person will
develop Restless
Legs Syndrome
0 - 79
Male
European ancestry
1 genetic markers
rs3923809 (BTBD9)
1.25x
compared to
average

The heritability of restless legs syndrome is estimated to be 54%. This means that genetic and environmental
factors contribute nearly equally to dierences in risk for this condition. Genetic factors that play a role in
restless legs syndrome include both unknown factors and known factors such as the SNPs we describe
here. Environmental factors include pregnancy. Low iron levels, dialysis for end-stage renal disease, and
damage to the nerves of the hands and feet tend to worsen the condition.
Glaucoma is one of the most common causes of blindness in the United States and globally, accounting for
about 12% of the world's cases. It is caused by a buildup of fluid pressure inside the eye, which eventually
damages the optic nerve and causes sight to deteriorate. Exfoliation glaucoma (sometimes called pseudoexfoliation glaucoma) is a subtype of the disease that often results from exfoliation syndrome, a disorder
which causes an accumulation of flaky, white material inside the eye that blocks fluid drainage. Exfoliation
syndrome aects about 10% of the population over 50, though some populations especially
Scandinavians have much higher rates of the condition.
2.2%
0.7%
Lucien's risk of
developing
Exfoliation
Glaucoma between
the ages specified
Chance that the

average person will
develop Exfoliation
Glaucoma
40 - 79
Male
European ancestry
1 genetic markers
rs2165241 (LOXL1)
2.90x
compared to
average

The heritability of exfoliation glaucoma has not been studied. However, the heritability of open-angle
glaucoma, a broad category of the disease that includes many cases of exfoliation glaucoma, has been
estimated to be 13%. This means that environmental factors contribute more to dierences in risk for this
condition than genetic factors. Environmental factors that may increase the risk for glaucoma include
diabetes, high blood pressure, heart disease, eye injury or disease and prolonged corticosteroid use.
Inherited Condition: Hemochromatosis (HFE-related)

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

Variant
Present
Has one mutation in the HFE gene linked to hemochromatosis. A person with one of these
mutations is not typically prone to higher levels of iron in the body, but can pass the mutation to
ospring. 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
Variants detected: H63D
Coverage: Up to 90%

Mutations in a number of genes can cause hereditary hemochromatosis (HH). The HFE gene is most often
linked to HH, and 23andMe reports data for the three most common HFE mutations C282Y, H63D, and
S65C. At least 17 additional mutations in the HFE gene (not reported here) have been linked to HH, but all of
them are very rare. Sixty to 90 percent of people with HH have two copies of the C282Y mutation and are
prone to higher levels of iron in the body, which in a small percentage of cases leads to clinical symptoms of
hemochromatosis such as liver disease and arthritis. Individuals with any other combination of these three
mutations usually do not develop clinical symptoms or typically have only a mild form of the condition (read
more in the technical report). Other genetic and non-genetic factors also influence whether someone with
one or more of these mutations goes on to develop hemochromatosis. Keep in mind that it is possible to
have another mutation that causes this condition that is not included in this report.
What You Can Do
This is not a diagnostic test. If you are considering having children, consult with a healthcare provider
about confirming your result especially if you have a family history of this condition. Likewise, consider
genetic testing for your partner to help assess a childs risk for this condition.
Genetic conditions run in families. Sharing this information with family members might be useful to help
them better understand their own risk of having a child with this condition.
Find more information and resources.
If you have questions about what your results mean for you or your family, consider speaking with a
genetic counselor. Genetic counselors help people understand genetic disorders and genetic test results.
Learn more about genetic counseling here.
Drug response: Hepatitis C Treatment Response

Unlike the flu virus, which the body is generally able to fight o completely, infection with the hepatitis C virus
is often chronic. That means for most of the three to four million people worldwide who are newly infected
each year the virus will persist in the liver, where it greatly increases risk for diseases including cirrhosis and
cancer. Even with the approval of new therapies, the current treatments still require six to nearly twelve
months of drug regimes and they often cause severe side-eects. Worse yet, the treatments still fail in over
25-40% of patients. In addition to several non-genetic factors that can impact treatment success, recent
research has shown that DNA variations in and around the IL28B gene are associated with reduced chances
of responding to certain hepatitis C treatments.

Reduced
Moderately lower odds of responding to PEG-IFN-alpha and RBV combination treatment for
hepatitis C.
Marker
Lucien's Genotype
rs8099917
GT
Markers tested: 1

23andMe reports data for a SNP that has been shown to be associated with reduced odds of responding to
peginterferon alpha (PEG-IFN-alpha) and ribavirin (RBV) combination treatment for hepatitis C. Other genetic
and non-genetic factors also play a part in determining whether an individual will respond to treatment with
this drug combination.
What You Can Do
This is not a diagnostic test. If this medication is prescribed for you and your results show that you have a
gene variant that may aect how you respond to it, consult with a healthcare provider about confirming
the result or taking appropriate next steps.
Only a healthcare provider can determine if this treatment is right for you. Do not use the information in
this report on its own to stop, start, or make any changes to any current treatment without first consulting
a healthcare provider.
Drug response: Proton Pump Inhibitor (PPI) Metabolism (CYP2C19-related)

Proton pump inhibitors (PPIs) are drugs that limit the production of stomach acid. They are used to treat
gastrointestinal conditions like ulcers, acid reflux disease, and infection by a common type of stomach
bacteria called H. pylori. The ability of PPIs to reduce stomach acid production depends not only on factors
like age, body weight, diet, kidney and liver function and other medications, but also on genetics. The
CYP2C19 gene encodes an enzyme that metabolizes PPIs. Certain variants in this gene result in an enzyme
that metabolizes PPIs rapidly, which can decrease a PPI's eectiveness at standard doses. People with
these variants may need dierent doses to eectively reduce stomach acid production. PPIs are sold under
many names, but three that are most influenced by CYP2C19 genetics are omeprazole (Prilosec),
lansoprazole (Prevacid), and pantoprazole (Protonix).

Rapid
Likely an ultrarapid or rapid metabolizer. Someone with this genotype typically metabolizes
certain PPIs at a rapid rate. Although the standard dose is usually eective, some people with this
genotype may benefit from a dierent dose, especially if being treated for H. pylori infection. If
you are taking a PPI and your symptoms do not improve, consider talking to your doctor.
Gene
Variant
DNA change
Lucien's genotype
CYP2C19
*2
G to A
GG
CYP2C19
*3
G to A
GG
CYP2C19
*4
A to G
AA
CYP2C19
*8
T to C
TT
CYP2C19
*17
C to T
TT
Markers tested: 5
Genotype combination: Likely an ultrarapid metabolizer (CYP2C19

*17/*17). Likely to metabolize certain PPIs at
a rapid rate. Standard doses are usually
eective, but some people with this genotype
may benefit from a dierent dose, especially
for treating H. pylori infections. If you are
taking a PPI and your symptoms do not
improve, consider talking to your doctor. *17

This report includes five genetic variants in a gene called CYP2C19, which influences how rapidly PPIs are
metabolized by the body. Four of the variants (*2, *3, *4, and *8) are associated with slow metabolism, and
the other variant (*17) is associated with rapid metabolism. People who do not have any of these five variants
are most likely to have *1, the most common version of of the CYP2C19 gene, which is also associated with
rapid PPI metabolism. It is still possible to have other very rare genetic variants not included in this report
that may aect PPI metabolism.
According to guidelines from the Dutch Pharmacogenetics Working Group and additional studies, standard
PPI doses may not be eective for some people with the rapid-metabolizer genotypes. People with these
genotypes may benefit from a dierent dose, especially when treating H. pylori infections.
Not all PPIs are metabolized equally by the CYP2C19 enzyme. Omeprazole (Prilosec), lansoprazole
(Prevacid), and pantoprazole (Protonix) are more dependent on CYP2C19 metabolism than others such
as rabeprazole (AcipHex) and esomeprazole (Nexium).
In addition to genetic factors like CYP2C19, non-genetic factors like body weight, age, kidney and liver
function, and the use of other drugs also play a role in response to PPIs.
What You Can Do
This is not a diagnostic test. If this medication is prescribed for you and your results show that you have a
gene variant that may aect how you respond to it, consult with a healthcare provider about confirming
the result or taking appropriate next steps.
Only a healthcare provider can determine if this treatment is right for you. Do not use the information in
this report on its own to stop, start, or make any changes to any current treatment without first consulting
a healthcare provider.
Lucien Engelen's results for all conditions tested by 23andMe

Conditions and diseases tested by 23andMe: This list may change as new genetic associations are
discovered and reported. Please visit our website at https://www.23andme.com/health/ to view the most upto-date list of conditions tested by 23andMe.
About Risk Estimates:
23andMe reports results as
genotype-specific incidence, which is
an estimate of how many individuals
in a population composed of people
with a customer's genotype are
expected to be diagnosed with a
condition given a specified ancestry
and age range. These estimates are
based on well-established genetic
associations reported in the
biomedical literature and do not
account for non-genetic factors,
family history, or additional genetic
factors that may modify a customer's
risk. The genotype-specific incidence
estimate combines the odds for a
condition for a customer's genotypes
at a set of SNPs with data about
disease incidence. For more
information on how 23andMe
calculates these estimates, please
see our technical papers available at
https://www.23andme.com/howitworks/.
Disease Risk (31)
Your risk
Average
risk
Type 2 Diabetes
37.1%
25.7%
Prostate Cancer
29.1%
17.8%
17.9%
12.3%
2.5%
2.0%
2.2%
0.7%
Esophageal Squamous Cell Carcinoma

(ESCC)
0.56%
0.36%
Stomach Cancer (Gastric Cardia

Adenocarcinoma)
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
Gout
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
About Inherited Conditions:

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.
Crohn's Disease
Decreased risk
Melanoma
Decreased risk
Multiple Sclerosis
Decreased risk
Parkinson's Disease
Decreased risk
Primary Biliary Cirrhosis
Decreased risk
Psoriasis
Decreased risk
Rheumatoid Arthritis
Decreased risk
Type 1 Diabetes
Decreased risk
Ulcerative Colitis
Decreased risk
Inherited Conditions (53)
Status
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
BRCA Cancer Mutations (Selected)
Variant Absent
Beta Thalassemia
Variant Absent
Bloom's Syndrome
Variant Absent
Canavan Disease
Variant Absent
Congenital Disorder of Glycosylation Type

1a (PMM2-CDG)
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
Hereditary Fructose Intolerance
Variant Absent
Hypertrophic Cardiomyopathy (MYBPC3

25bp-deletion)
Variant Absent
Junctional Epidermolysis Bullosa (LAMB3related)
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 (CLN5related)
Variant Absent
Neuronal Ceroid Lipofuscinosis (PPT1related)
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 Punctata

Type 1 (RCDP1)
Variant Absent
Salla Disease
Variant Absent
Sickle Cell Anemia
Variant Absent
Sjgren-Larsson Syndrome
Variant Absent
TTR-Related Cardiac Amyloidosis
Variant Absent
TTR-Related Familial Amyloid

Polyneuropathy
Variant Absent
Tay-Sachs Disease
Variant Absent
Torsion Dystonia
Variant Absent
About Drug Response:

23andMe displays your possible
response to a number of drugs based
on genetic variants associated with
dierences in response. These may
be dierences in sensitivity, in the
likelihood or severity of side eects,
or dierences in disease risk tied to
use of a drug. Only a medical
professional can determine whether a
drug is right for a particular patient.
The information contained in this
report should not be used to
independently establish a drug
regimen, or abolish or adjust an
existing course of treatment.
Tyrosinemia Type I
Variant Absent
Usher Syndrome Type I (PCDH15-related)
Variant Absent
Usher Syndrome Type III
Variant Absent
Zellweger Syndrome Spectrum
Variant Absent
Drug Response (12)
Response
Reduced
Proton Pump Inhibitor (PPI) Metabolism

(CYP2C19-related)
Rapid
Abacavir Hypersensitivity
Typical
Acetaldehyde Toxicity
Typical
Clopidogrel (Plavix) Ecacy (CYP2C19related)
Typical
Fluorouracil Toxicity
Typical
Oral Contraceptives, Hormone

Replacement Therapy and Risk of Venous
Thromboembolism
Not Applicable
Phenytoin Sensitivity (Epilepsy Drug)
Typical
Pseudocholinesterase Deficiency
Typical
Sulfonylurea Metabolism
Typical
Thiopurine Methyltransferase Activity
Likely Typical (Normal

Activity)
Warfarin (Coumadin) Sensitivity
Typical
References
Type 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 associated
with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals." Diabetes
55(10):2890-5
Helgason et al. (2007) . "Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive
evolution." 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 triglyceride
levels." Science 316(5829):1331-6
Zeggini et al. (2007) . "Replication of genome-wide association signals in UK samples reveals risk loci for
type 2 diabetes." Science 316(5829):1336-41
Scott et al. (2007) . "A genome-wide association study of type 2 diabetes in Finns detects multiple
susceptibility variants." Science 316(5829):1341-5
Horikoshi et al. (2007) . "A genetic variation of the transcription factor 7-like 2 gene is associated with risk
of 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 with
reduced 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 an
increased risk of gestational diabetes mellitus." Diabetologia 50(5):972-9
Wellcome Trust Case Control Consortium (2007) . "Genome-wide association study of 14,000 cases of
seven 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 2
diabetes 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 2
diabetes 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 4,087
Japanese subjects." J Hum Genet 53(2):174-80
Altshuler et al. (2000) . "The common PPARgamma Pro12Ala polymorphism is associated with decreased
risk 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-activated
transcription factor." Cell 79(7):1147-56
Ek et al. (2001) . "Studies of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptorgamma2 (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 2
diabetes." Biochem Biophys Res Commun 271(1):212-6
Mori et al. (2001) . "The Pro12 -->Ala substitution in PPAR-gamma is associated with resistance to
development of diabetes in the general population: possible involvement in impairment of insulin secretion
in individuals with type 2 diabetes." Diabetes 50(4):891-4
Moon et al. (2005) . "Genetic polymorphisms in peroxisome proliferator-activated receptor gamma are
associated 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 insulin
response 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." Diabetes
41(10):1221-8
Shaat et al. (2005) . "Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetes
mellitus." Diabetologia 48(12):2544-51
Sakamoto et al. (2007) . "SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and
blood 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 with
susceptibility 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 translation
in late development." Mol Cell Biol 19(2):1262-70
Rodriguez et al. (2007) . "Molecular genetics of human growth hormone, insulin-like growth factors and
their 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 variants
are 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 subjects
with 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 and
the insulin-like growth factor system: 65-year follow-up of the Boyd Orr Cohort." J Clin Endocrinol Metab
91(9):3287-95
Li X et al. (2009) . "Variation in IGF2BP2 interacts with adiposity to alter insulin sensitivity in Mexican
Americans." Obesity (Silver Spring) 17(4):729-36
Bort et al. (2006) . "Hex homeobox gene controls the transition of the endoderm to a pseudostratified, cell
emergent 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 the
ventral pancreas." Development 131(4):797-806
Marlowe et al. (2006) . "Insulin-degrading enzyme haplotypes aect 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 are
associated 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 Han
Chinese population." BMC Med. Genet. 11:97
Takeuchi F et al. (2009) . "Confirmation of multiple risk Loci and genetic impacts by a genome-wide
association 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 2
diabetes." Nat Genet 39(6):770-5
Ubeda et al. (2006) . "Inhibition of cyclin-dependent kinase 5 activity protects pancreatic beta cells from
glucotoxicity." J Biol Chem 281(39):28858-64
Chimienti et al. (2004) . "Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localized
into insulin secretory granules." Diabetes 53(9):2330-7
Chimienti et al. (2006) . "In vivo expression and functional characterization of the zinc transporter ZnT8 in
glucose-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 European populations." Diabetologia 51(3):458-63
Inoue et al. (1998) . "A gene encoding a transmembrane protein is mutated in patients with diabetes
mellitus and optic atrophy (Wolfram syndrome)." Nat Genet 20(2):143-8
Yamada et al. (2006) . "WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle
progression and triggers the apoptotic pathway specifically in pancreatic beta-cells." Hum Mol Genet
15(10):1600-9
Karasik et al. (1989) . "Genetically programmed selective islet beta-cell loss in diabetic subjects with
Wolfram's syndrome." Diabetes Care 12(2):135-8
Yamauchi T et al. (2010) . "A genome-wide association study in the Japanese population identifies
susceptibility 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 a
Chinese 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 Asian
and 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-scale
association analysis." Nat. Genet. 42(7):579-89
Bouatia-Naji N et al. (2009) . "A variant near MTNR1B is associated with increased fasting plasma glucose
levels 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 African
populations." Nat Genet 38(6):652-8
Freedman et al. (2006) . "Admixture mapping identifies 8q24 as a prostate cancer risk locus in AfricanAmerican 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 Prev
16(3):610-2
Yeager et al. (2007) . "Genome-wide association study of prostate cancer identifies a second risk locus at
8q24." Nat Genet 39(5):645-9
Gudmundsson et al. (2007) . "Genome-wide association study identifies a second prostate cancer
susceptibility variant at 8q24." Nat Genet 39(5):631-7
Wang et al. (2007) . "Two common chromosome 8q24 variants are associated with increased risk for
prostate cancer." Cancer Res 67(7):2944-50
Schumacher et al. (2007) . "A common 8q24 variant in prostate and breast cancer from a large nested
case-control study." Cancer Res 67(7):2951-2956
Suuriniemi et al. (2007) . "Confirmation of a positive association between prostate cancer risk and a locus
at 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 Med
358(9):910-9
Zheng et al. (2007) . "Association between two unlinked loci at 8q24 and prostate cancer risk among
European Americans." J Natl Cancer Inst 99(20):1525-33
Haiman et al. (2007) . "Multiple regions within 8q24 independently aect risk for prostate cancer." Nat
Genet 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 Americans
identifies 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 prostate
cancer 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 in
TCF2 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 association
studies 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 MSMB
at 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 international
study: 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 chromosome
10q11.2 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 genomewide association study." Nat. Genet. 41(10):1116-21
Gudmundsson J et al. (2009) . "Genome-wide association and replication studies identify four variants
associated 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 gene
on chromosome 7p15.2." Cancer Epidemiol. Biomarkers Prev. 19(5):1349-55
Rosendaal et al. (1995) . "High risk of thrombosis in patients homozygous for factor V Leiden (activated
protein C resistance)." Blood 85(6):1504-8
Smith et al. (2007) . "Association of genetic variations with nonfatal venous thrombosis in postmenopausal
women." JAMA 297(5):489-98
Emmerich et al. (2001) . "Combined eect of factor V Leiden and prothrombin 20210A on the risk of
venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204
controls. 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
protein C." 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 is
associated with elevated plasma prothrombin levels and an increase in venous thrombosis." Blood
88(10):3698-703.
Colucci et al. (2004) . "Hyperprothrombinemia associated with prothrombin G20210A mutation inhibits
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 possible
mechanism of the increased thrombotic risk." Blood 101(8):3008-13
Kyrle et al. (1998) . "Clinical studies and thrombin generation in patients homozygous or heterozygous for
the 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 innate
immunity pathways as risk factors for venous thromboembolism." J. Thromb. Haemost. 9(6):1133-42
Trgout DA et al. (2009) . "Common susceptibility alleles are unlikely to contribute as strongly as the FV
and 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 association
study." PLoS ONE 6(9):e25581
O'Donnell J et al. (2002) . "Amount of H antigen expressed on circulating von Willebrand factor is modified
by ABO blood group genotype and is a major determinant of plasma von Willebrand factor antigen levels."
Arterioscler. Thromb. Vasc. Biol. 22(2):335-41
Miano A et al. (2008) . "AB0 blood group and risk of venous or arterial thrombosis in carriers of factor V
Leiden or prothrombin G20210A polymorphisms." Haematologica 93(5):729-34

Stefansson et al. (2007) . "A genetic risk factor for periodic limb movements in sleep." N Engl J Med
357(7):639-47
Winkelmann et al. (2007) . "Genome-wide association study of restless legs syndrome identifies common
variants 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 Biol
21(11):3609-15
Thorleifsson et al. (2007) . "Common sequence variants in the LOXL1 gene confer susceptibility to
exfoliation glaucoma." Science 317(5843):1397-400
Pasutto et al. (2008) . "Association of LOXL1 common sequence variants in German and Italian patients
with 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 and
exfoliation glaucoma." Mol Vis. 14:533-41
Challa et al. (2008) . "Analysis of LOXL1 polymorphisms in a United States population with
pseudoexfoliation 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
Bacon BR et al. (2011) . "Diagnosis and management of hemochromatosis: 2011 practice guideline by the
American 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(1718):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
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 diagnostic approaches."
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 hereditary
haemochromatosis." Nat. Genet. 13(4):399-408
Naugler (2008) . "Hemochromatosis: a Neolithic adaptation to cereal grain diets." Med. Hypotheses
70(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 associated
with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role
against iron deficiency?" Clin. Chem. 44(12):2429-32

Suppiah V (2009) . "IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin
therapy." Nat. Genet. 41(10):1100-4
Ge D (2009) . "Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance." Nature
461(7262):399-401
Tanaka Y (2009) . "Genome-wide association of IL28B with response to pegylated interferon-alpha and
ribavirin therapy for chronic hepatitis C." Nat. Genet. 41(10):1105-9
Proton Pump Inhibitor (PPI) Metabolism (CYP2C19-related)

Hunfeld et al. (2008) . "Eect of CYP2C19*2 and *17 mutations on pharmacodynamics and kinetics of
proton pump inhibitors in Caucasians." Br. J. Clin. Pharmacol. 65(5):752-60
Swen et al. (2011) . "Pharmacogenetics: from bench to byte - an update of guidelines." Clin. Pharmacol.
Ther. 89(5):662-73
Shi et al. (2008) . "Proton pump inhibitors: an update of their clinical use and pharmacokinetics." Eur. J.
Clin. Pharmacol. 64(10):935-51
Furuta et al. (1999) . "CYP2C19 genotype status and eect of omeprazole on intragastric pH in humans."
Clin. Pharmacol. Ther. 65(5):552-61
Tang et al. (2013) . "Eects of CYP2C19 loss-of-function variants on the eradication of H. pylori infection in
patients treated with proton pump inhibitor-based triple therapy regimens: a meta-analysis of randomized
clinical trials." PLoS One 8(4)
Goldstein et al. (2001) . "Clinical relevance of genetic polymorphisms in the human CYP2C subfamily." Br.
J. Clin. Pharmacol. 52(4):349-55
Furuta et al. (2007) . "CYP2C19 pharmacogenomics associated with therapy of Helicobacter pylori
infection and gastro-esophageal reflux diseases with a proton pump inhibitor." Pharmacogenomics
58(9):1199-210
Chaudhry et al. (2008) . "Genetic polymorphism of CYP2C19 and therapeutic response to proton pump
inhibitors." Indian J. Med. Res. 127(6):521-30
Li-Wan-Po et al. (2010) . "Pharmacogenetics of CYP2C19: functional and clinical implications of a new
variant CYP2C19*17." Br. J. Clin. Pharmacol. 69(3):222-30
McNicholl et al. (2012) . "Meta-analysis: esomeprazole or rabeprazole vs. first-generation pump inhibitors
in the treatment of Helicobacter pylori infection." Aliment. Pharmacol. Ther. 36(5):414-25
Ingelman-Sundberg et al. (2007) . "Influence of cytochrome P450 polymorphisms on drug therapies:
pharmacogenetic, pharmacoepigenetic and clinical aspects." Pharmacol. Ther. 116(3):496-526
About the 23andMe Personal Genome Service

23andMe's Personal Genome Service provides customers with data on hundreds of thousands of single
nucleotide polymorphisms (SNPs) in their genome using a microarray-based genotyping assay. Customers
provide saliva samples, which are analyzed by a CLIA-certified laboratory. Results are viewable on the
23andMe website at https://www.23andme.com/you/.

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23andMe Genetic Health Overview

What this overview includes

Overview of Genetic Health

Components of this test were

Restless Legs Syndrome

Typical or decreased risk

*All conditions tested are listed at the

Hepatitis C Treatment Response

Proton Pump Inhibitor (PPI) Metabolism (CYP2C19related)

How to read your reports

What is my risk based on?

Lucien's Genetic Risk

Chance that the

Understanding Your Results

What is my risk based on?

Lucien's Genetic Risk

Chance that the

Understanding Your Results

What is my risk based on?

Lucien's Genetic Risk

Chance that the

Understanding Your Results

Restless Legs Syndrome

What is my risk based on?

Lucien's Genetic Risk

Chance that the

Understanding Your Results

What is my risk based on?

Lucien's Genetic Risk

Chance that the

Understanding Your Results

Inherited Condition: Hemochromatosis (HFE-related)

Lucien's Genetic Results

Variants detected: H63D

Understanding Your Results

Drug response: Hepatitis C Treatment Response

Lucien's Genetic Results

Understanding Your Results

Drug response: Proton Pump Inhibitor (PPI) Metabolism (CYP2C19-related)

Lucien's Genetic Results

Genotype combination: Likely an ultrarapid metabolizer (CYP2C19

Understanding Your Results

Lucien Engelen's results for all conditions tested by 23andMe

Disease Risk (31)

Restless Legs Syndrome

Esophageal Squamous Cell Carcinoma

Stomach Cancer (Gastric Cardia

Chronic Kidney Disease

Lupus (Systemic Lupus Erythematosus)

Scleroderma (Limited Cutaneous Type)

Age-related Macular Degeneration

Coronary Heart Disease

About Inherited Conditions:

Primary Biliary Cirrhosis

Inherited Conditions (53)

Agenesis of the Corpus Callosum with

Alpha-1 Antitrypsin Deficiency

Autosomal Recessive Polycystic Kidney

BRCA Cancer Mutations (Selected)

Congenital Disorder of Glycosylation Type

Connexin 26-Related Sensorineural

D-Bifunctional Protein Deficiency

Familial Hypercholesterolemia Type B