Classification of common human diseases derived from shared genetic and environmental determinants
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In this study, we used insurance claims for over one-third of the entire US population to create a subset of 128,989 families (481,657 unique individuals). We then used these data to (i) estimate the heritability and familial environmental patterns of 149 diseases and (ii) infer the genetic and environmental correlations for disease pairs from a set of 29 complex diseases. The majority (52 of 65) of our study's heritability estimates matched earlier reports, and 84 of our estimates appear to have been obtained for the first time. We used correlation matrices to compute environmental and genetic disease classifications and corresponding reliability measures. Among unexpected observations, we found that migraine, typically classified as a disease of the central nervous system, appeared to be most genetically similar to irritable bowel syndrome and most environmentally similar to cystitis and urethritis, all of which are inflammatory diseases.
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ASD is among the most heritable common medical conditions.
“In addition, one analyses demonstrated that ASD is among the most heritable common medical conditions 33 .”
From Autism spectrum disorder (2020) · cites this paper as [33]
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- Authors
- Wang, K., Gaitsch, H., Poon, H., Cox, N. J., & Rzhetsky, A.
- Affiliations
- University of Chicago (US)
- Microsoft (United States) (US)
- Vanderbilt University (US)
- Corresponding author
- Rzhetsky, Andrey
- Venue
- Nature Genetics
- Published
- 2017-08-07
- Volume
- 49
- Issue
- 9
- Pages
- 1319-1325
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5577363
- OpenAlex
- W2745008762
- Cited by
- 242
- References
- 54
- Citations by year
- 2026: 13 · 2025: 22 · 2024: 41 · 2023: 25 · 2022: 22 · 2021: 36 · 2020: 22 · 2019: 35 · 2018: 21 · 2017: 5
- FWCI
- 15.03
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5p50mh094267-05)
- Defense Advanced Research Projects Agency
- National Heart, Lung, and Blood Institute (R01HL122712, U01HL108634)
- National Institute of Mental Health (P50-MH094267)
- Army Research Office
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Epidemiology › Chronic Disease Management Strategies
- Physical Sciences › Environmental Science › Health, Toxicology and Mutagenesis › Health, Environment, Cognitive Aging
- Keywords
- disease heritability, genetic correlation, environmental correlation, complex diseases, disease classification, health insurance claims, electronic health records, migraine, irritable bowel syndrome, cystitis, urethritis
- MeSH terms
- Cystitis, Disease, Environment, Female, Humans, Inflammation, Insurance Claim Reporting, Male, Migraine Disorders, Pedigree, Risk Factors, United States, Urethritis, Multivariate Analysis, Linear Models, Genetic Predisposition to Disease, Inheritance Patterns, Irritable Bowel Syndrome
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