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

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

Author information

1
Committee on Genetics, Genomics, and Systems Biology, University of Chicago, Chicago, Illinois, USA.
2
Institute of Genomics and Systems Biology, University of Chicago, Chicago, Illinois, USA.
3
Microsoft Research, Redmond, Washington, USA.
4
Vanderbilt Genetics Institute, Vanderbilt University, School of Medicine, Nashville, Tennessee, USA.
5
Department of Medicine, Department of Human Genetics, and Computation Institute, University of Chicago, Chicago, Illinois, USA.

Abstract

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.

PMID:
28783162
PMCID:
PMC5577363
DOI:
10.1038/ng.3931
[Indexed for MEDLINE]
Free PMC Article

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