Journal article
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants
Science Translational Medicine, Vol.9(389), eaai8708
2017
Abstract
Although many phenotypes have been associated with variants in human leukocyte antigen (HLA) genes, the full phenotypic impact of HLA variants across all diseases is unknown. We imputed HLA genomic variation from two populations of 28,839 and 8431 European ancestry individuals and tested association of HLA variation with 1368 phenotypes. A total of 104 four-digit and 92 two-digit HLA allele phenotype associations were significant in both discovery and replication cohorts, the strongest being HLA-DQB1*03:02 and type 1 diabetes. Four previously unidentified associations were identified across the spectrum of disease with two- and four-digit HLA alleles and 10 with nonsynonymous variants. Some conditions associated with multiple HLA variants and stronger associations with more severe disease manifestations were identified. A comprehensive, publicly available catalog of clinical phenotypes associated with HLA variation is provided. Examining HLA variant disease associations in this large data set allows comprehensive definition of disease associations to drive further mechanistic insights.
Details
- Title
- Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants
- Authors/Creators
- J.H. Karnes (Author/Creator)L. Bastarache (Author/Creator)C.M. Shaffer (Author/Creator)S. Gaudieri (Author/Creator)Y. Xu (Author/Creator)A.M. Glazer (Author/Creator)J.D. Mosley (Author/Creator)S. Zhao (Author/Creator)S. Raychaudhuri (Author/Creator)S. Mallal (Author/Creator)Z. Ye (Author/Creator)J.G. Mayer (Author/Creator)M.H. Brilliant (Author/Creator)S.J. Hebbring (Author/Creator)D.M. Roden (Author/Creator)E.J. Phillips (Author/Creator)J.C. Denny (Author/Creator)
- Publication Details
- Science Translational Medicine, Vol.9(389), eaai8708
- Identifiers
- 991005540958207891
- Copyright
- © 2017, American Association for the Advancement of Science
- Murdoch Affiliation
- Institute for Immunology and Infectious Diseases
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.189 Genome Studies
- 1.189.455 Genome-Wide Association Studies
- Web Of Science research areas
- Cell Biology
- Medicine, Research & Experimental
- ESI research areas
- Biology & Biochemistry