Estimate of disease heritability using 4.7 million familial relationships inferred from electronic health records
bioRxiv preprint first posted online Jul. 28, 2016
- Health problems that run in families are often associated with low vitamin D
Note: Association can be due to low blood levels and/or poor Vitamin D genes - Reasons for low response to vitamin D
- Autoimmune disease clusters run in families (polyautoimmunity) are associated with low vitamin D
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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
http://www.snpedia.com/index.php/Heritability
Medical Condition / Topic | Heritability Est. | References |
Abdominal aortic aneurysm | 71% | PMID 19939604 |
Acne | 81% | PMID 12485434 |
Age-related macular degeneration | 49 - 71% | PMID 9869796 |
Alcoholism | 50 - 60% | PMID 19785977 |
Alzheimer's disease | 58 - 79% | PMID 16461860 |
Androgenic alopecia (females) | 80% | PMID 18849991 |
Anorexia nervosa | 57 - 79% | PMID 19828139 |
Asthma | 30% | PMID 16117840 |
Attention deficit hyperactivity disorder | 70% | PMID 22833045 |
Autism | 30 - 90% | PMID 17033636 |
Balding | 39% | 10.1038/ncomms10815 |
Beard thickness | 74% | 10.1038/ncomms10815 |
Bipolar disorder | 70% | PMID 14601036 |
Bladder cancer | 7 - 31% | PMID 21927616 |
Blood pressure, diastolic | 49% | PMID 19858476 |
Blood pressure, systolic | 30% | PMID 22479213 |
Body mass index | 23 - 51% | PMID 25383972, PMID 18271028 |
Bone mineral density | 44 - 87% | PMID 15750698, PMID 16025191 |
Breast cancer | 25 - 56% | PMID 11979442, PMID 2491011 |
Celiac disease | 57 - 87% | PMID 16354797 |
Cervical cancer | 22% | PMID 11979442 |
Chronic obstructive pulmonary disease | 76% | PMID 20541380 |
Colon cancer | 13% | PMID 11979442 |
Coronary artery disease | 49% | PMID 15710764 |
Crohn's disease | 53% | PMID 3396969 |
Depression | 50% | PMID 15877306 |
Eczema (adults) | 61% | PMID 11742265 |
Eczema (children) | 90% | PMID 17215318 |
Epilepsy | 70 - 88% | PMID 11325572 |
Eye color | 98% | PMID 9152135 |
Eyebrow thickness | 37% | 10.1038/ncomms10815 |
Freckle counts | 91% | PMID 10716963 |
Gallstone disease | 25% | PMID 15747383 |
Glaucoma | 36 - 57% | PMID 14691154 |
Graves' disease | 79% | PMID 11158069 |
Hair color | 100% | 10.1038/ncomms10815 |
Hair curliness (Hair shape) | 64-95% | PMID 19803779,10.1038/ncomms10815 |
Hair graying | 27% | 10.1038/ncomms10815 |
Handedness | 24% | PMID 26063907 |
Hangover | 24-45% | PMID 25098862 |
Heart disease | 34 - 53% | PMID 10892820 |
Height | 55 - 81% | PMID 25383972, PMID 18271028 |
Hypertension | 30% | PMID 15808811 |
Insomnia | 48% | PMID 22704400 |
Irritable bowel syndrome | "little"? or 44% for females? | PMID 15929767, PMID 17008364 |
Leukemia | 1% | PMID 11979442 |
Longevity | 26% | PMID 8786073 |
Lung cancer | 8% | PMID 11979442 |
Lupus | 44 - 66% | PMID 17136562, PMID 3430520 |
Menarche, age at | 50 - 70% | PMID 17541737, PMID 17680356 |
Menopause, age at | 47% | PMID 19858476 |
Migraine | 53% | PMID 22678113 |
Monobrow | 74% | 10.1038/ncomms10815 |
Nicotine dependence | 60% | PMID 17888884 |
Obesity | 70% | PMID 16987875 |
Osteoarthritis | 30 - 65% | PMID 8616305, PMID 12855031, PMID 19153142 |
Ovarian cancer | 40% | PMID 2491011 |
Pain | 46% | PMID 20525736 |
Parkinson's disease | 25 - 30% | PMID 21738487 |
Periodontitis | 42% | PMID 19648170 |
Polycystic ovary syndrome | 72% | PMID 16219714 |
Prostate cancer | 42% | PMID 12642065 |
Psoriasis | 66% | PMID 17958839 |
QT interval | 34 - 50% | PMID 17565224, PMID 11260226 |
Rheumatoid arthritis | 55% | PMID 18835879 |
Rosacea | 46% | PMID 26307938 |
Schizophrenia | 81% | PMID 14662550 |
Sciatica | 20% | PMID 2605032 |
Sexual orientation | 60% | PMID 11058483 |
Stomach cancer | 1% | PMID 11979442 |
Stroke | 32% | PMID 11872902 |
Stuttering | 71 - 80% | PMID 11235981, PMID 15836814 |
Testicular cancer | 25% | PMID 11979442 |
Thyroid cancer | 53% | PMID 11979442 |
Tourette syndrome | 58 - 77% | PMID 24204291, PMID 26083307 |
Type-1 diabetes | 88% | PMID 12663480 |
Type-2 diabetes | 26% | PMID 10064092 |
Varicose veins | 86% | PMID 15744037 |