期刊
CELL
卷 155, 期 1, 页码 70-80出版社
CELL PRESS
DOI: 10.1016/j.cell.2013.08.030
关键词
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资金
- National Institutes of Health [1P50MH094267, NHLBI MAPGen U01HL108634-01, P50GM081892-01A1, 2T32GM007281-39]
- Chicago Biomedical Consortium
- Direct For Computer & Info Scie & Enginr
- Div Of Information & Intelligent Systems [0964526] Funding Source: National Science Foundation
- Direct For Computer & Info Scie & Enginr
- Div Of Information & Intelligent Systems [0964613] Funding Source: National Science Foundation
- Novo Nordisk Foundation Center for Protein Research [PI Søren Brunak, PI Lars Juhl Jensen] Funding Source: researchfish
Although countless highly penetrant variants have been associated with Mendelian disorders, the genetic etiologies underlying complex diseases remain largely unresolved. By mining the medical records of over 110 million patients, we examine the extent to which Mendelian variation contributes to complex disease risk. We detect thousands of associations between Mendelian and complex diseases, revealing a nondegenerate, phenotypic code that links each complex disorder to a unique collection of Mendelian loci. Using genome-wide association results, we demonstrate that common variants associated with complex diseases are enriched in the genes indicated by this Mendelian code.'' Finally, we detect hundreds of comorbidity associations among Mendelian disorders, and we use probabilistic genetic modeling to demonstrate that Mendelian variants likely contribute nonadditively to the risk for a subset of complex diseases. Overall, this study illustrates a complementary approach for mapping complex disease loci and provides unique predictions concerning the etiologies of specific diseases.
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