Classification of common human diseases derived from shared genetic and environmental determinants

Nat Genet. 2017 Sep;49(9):1319-1325. doi: 10.1038/ng.3931. Epub 2017 Aug 7.


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.

MeSH terms

  • Cystitis / classification
  • Cystitis / genetics
  • Disease / classification
  • Disease / genetics*
  • Environment*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Inflammation / classification
  • Inflammation / genetics
  • Inheritance Patterns / genetics
  • Insurance Claim Reporting / statistics & numerical data*
  • Irritable Bowel Syndrome / classification
  • Irritable Bowel Syndrome / genetics
  • Linear Models
  • Male
  • Migraine Disorders / classification
  • Migraine Disorders / genetics
  • Multivariate Analysis
  • Pedigree
  • Risk Factors
  • United States
  • Urethritis / classification
  • Urethritis / genetics