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Majority of heritable diseases are associated with vitamin D (from 4 million health records) – July 2016

Estimate of disease heritability using 4.7 million familial relationships inferred from electronic health records

bioRxiv preprint first posted online Jul. 28, 2016

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Note: Majority of the following diseases are in a Vitamin D category at the left side of this window

Fernanda Polubriaginof1, Kayla Quinnies1,2*, Rami Vanguri1*, Alexandre Yahi1, Mary Simmerling3, Iuliana Ionita-Laza4, Hojjat Salmasian1,5, Suzanne Bakken1,6, George Hripcsak1, David Goldstein2, Krzysztof Kiryluk7, David K. Vawdrey1,5 f, Nicholas P. Tatonetti1,2,7,8, nick.tatonetti at columbia.edu
Department of Biomedical Informatics, Columbia University, New York, NY
Institute for Genomic Medicine, Columbia University, New York, NY
Department of Medicine, Weill Cornell Medicine, Cornell University, New York, NY
Mailman School of Public Health, Columbia University, New York, NY
Value Institute, NewYork-Presbyterian Hospital, New York, NY
School of Nursing, Columbia University, New York, NY
Department of Medicine, Columbia University, New York, NY
Department of Systems Biology, Columbia University, New York, NY * These authors contributed equally, ordered alphabetically
f Co-senior author

Heritability is a fundamental characteristic of human disease essential to the development of a biological understanding of the causes of disease. Traditionally, heritability studies are a laborious process of patient recruitment and phenotype ascertainment. Electronic health records (EHR) passively capture a wide range and depth of clinically relevant data and represent a novel resource for studying heritability of many traits and conditions that are not typically accessible. In addition to a wealth of disease phenotypes, nearly every hospital collects and stores next-of-kin information on the emergency contact forms when a patient is admitted. Until now, these data have gone completely unused for research purposes. We introduce a novel algorithm to infer familial relationships using emergency contact information while maintaining privacy. Here we show that EHR data yield accurate estimates of heritability across all available phenotypes using millions familial relationships mined from emergency contact data at two large academic medical centers. Estimates of heritability were consistent between sites and with previously reported estimates. Inconsistencies were indicative of limitations and opportunities unique to EHR research. Critically, these analyses provide a novel validation of the utility of electronic health records in inferences about the biological basis of disease.

One of their references


Medical Condition / TopicHeritability Est.References
Abdominal aortic aneurysm71%PMID 19939604
Acne81%PMID 12485434
Age-related macular degeneration49 - 71%PMID 9869796
Alcoholism50 - 60%PMID 19785977
Alzheimer's disease58 - 79%PMID 16461860
Androgenic alopecia (females)80%PMID 18849991
Anorexia nervosa57 - 79%PMID 19828139
Asthma30%PMID 16117840
Attention deficit hyperactivity disorder70%PMID 22833045
Autism30 - 90%PMID 17033636
Beard thickness74%10.1038/ncomms10815
Bipolar disorder70%PMID 14601036
Bladder cancer7 - 31%PMID 21927616
Blood pressure, diastolic49%PMID 19858476
Blood pressure, systolic30%PMID 22479213
Body mass index23 - 51%PMID 25383972, PMID 18271028
Bone mineral density44 - 87%PMID 15750698, PMID 16025191
Breast cancer25 - 56%PMID 11979442, PMID 2491011
Celiac disease57 - 87%PMID 16354797
Cervical cancer22%PMID 11979442
Chronic obstructive
pulmonary disease
76%PMID 20541380
Colon cancer13%PMID 11979442
Coronary artery disease49%PMID 15710764
Crohn's disease53%PMID 3396969
Depression50%PMID 15877306
Eczema (adults)61%PMID 11742265
Eczema (children)90%PMID 17215318
Epilepsy70 - 88%PMID 11325572
Eye color98%PMID 9152135
Eyebrow thickness37%10.1038/ncomms10815
Freckle counts91%PMID 10716963
Gallstone disease25%PMID 15747383
Glaucoma36 - 57%PMID 14691154
Graves' disease79%PMID 11158069
Hair color100%10.1038/ncomms10815
Hair curliness (Hair shape)64-95%PMID 19803779,10.1038/ncomms10815
Hair graying27%10.1038/ncomms10815
Handedness24%PMID 26063907
Hangover24-45%PMID 25098862
Heart disease34 - 53%PMID 10892820
Height55 - 81%PMID 25383972, PMID 18271028
Hypertension30%PMID 15808811
Insomnia48%PMID 22704400
Irritable bowel syndrome"little"? or
44% for females?
PMID 15929767, PMID 17008364
Leukemia1%PMID 11979442
Longevity26%PMID 8786073
Lung cancer8%PMID 11979442
Lupus44 - 66%PMID 17136562, PMID 3430520
Menarche, age at50 - 70%PMID 17541737, PMID 17680356
Menopause, age at47%PMID 19858476
Migraine53%PMID 22678113
Nicotine dependence60%PMID 17888884
Obesity70%PMID 16987875
Osteoarthritis30 - 65%PMID 8616305, PMID 12855031, PMID 19153142
Ovarian cancer40%PMID 2491011
Pain46%PMID 20525736
Parkinson's disease25 - 30%PMID 21738487
Periodontitis42%PMID 19648170
Polycystic ovary syndrome72%PMID 16219714
Prostate cancer42%PMID 12642065
Psoriasis66%PMID 17958839
QT interval34 - 50%PMID 17565224, PMID 11260226
Rheumatoid arthritis55%PMID 18835879
Rosacea46%PMID 26307938
Schizophrenia81%PMID 14662550
Sciatica20%PMID 2605032
Sexual orientation60%PMID 11058483
Stomach cancer1%PMID 11979442
Stroke32%PMID 11872902
Stuttering71 - 80%PMID 11235981, PMID 15836814
Testicular cancer25%PMID 11979442
Thyroid cancer53%PMID 11979442
Tourette syndrome58 - 77%PMID 24204291, PMID 26083307
Type-1 diabetes88%PMID 12663480
Type-2 diabetes26%PMID 10064092
Varicose veins86%PMID 15744037

Attached files

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6936 DH-E.jpg admin 04 Aug, 2016 13:55 28.93 Kb 334
6935 DH-D.jpg admin 04 Aug, 2016 13:55 31.28 Kb 476
6934 DH-B.jpg admin 04 Aug, 2016 13:54 33.81 Kb 1620
6933 disease heritability.pdf PDF 2016 admin 04 Aug, 2016 13:53 2.35 Mb 460
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