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

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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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@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