A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
Open accessAbstract
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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- Authors
- Blair, D. R., Lyttle, C. S., Mortensen, J. M., Bearden, C. F., Jensen, A. B., Khiabanian, H., Melamed, R., Rabadan, R., Bernstam, E. V., Brunak, S., Jensen, L. J., Nicolae, D., Shah, N. H., Grossman, R. L., Cox, N. J., White, K. P., & Rzhetsky, A.
- Affiliations
- University of Chicago (US)
- Stanford University (US)
- The University of Texas Health Science Center at Houston (US)
- Technical University of Denmark (DK)
- Columbia University (US)
- University of Copenhagen (DK)
- Corresponding author
- White, Kevin P.
- Rzhetsky, Andrey
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2013-09
- Volume
- 155
- Issue
- 1
- Pages
- 70-80
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC3844554
- OpenAlex
- W2138842039
- Cited by
- 215
- References
- 66
- Citations by year
- 2026: 2 · 2025: 9 · 2024: 4 · 2023: 6 · 2022: 12 · 2021: 25 · 2020: 11 · 2019: 29 · 2018: 22 · 2017: 19 · 2016: 20 · 2015: 26 · 2014: 27 · 2013: 3
- FWCI
- 16.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Technical University of Denmark, DTU Orbit (Technical University of Denmark, DTU) (submittedVersion)
- Funders
- National Institutes of Health (5p50mh094267-05)
- National Heart, Lung, and Blood Institute (U01HL108634)
- National Institute of Mental Health (P50-MH094267, 1P50MH094267)
- National Human Genome Research Institute (U54HG004028)
- National Eye Institute
- National Institute of General Medical Sciences (T32GM007281, P50GM081892)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Keywords
- monogenic disorders, deleterious mutations, comorbidities, disease locus mapping, genetic etiology, common genetic variants
- MeSH terms
- Disease, Humans, Models, Genetic, Penetrance, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Health Records, Personal
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