Voltar
Artigo Acesso aberto Revisado por pares
BIBTEX RIS

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants

2017; American Association for the Advancement of Science; Volume: 9; Issue: 389 Linguagem: Inglês

10.1126/scitranslmed.aai8708

ISSN

1946-6242

Autores

Jason H. Karnes, Lisa Bastarache, Christian M. Shaffer, Silvana Gaudieri, Yaomin Xu, Andrew M. Glazer, Jonathan D. Mosley, Shilin Zhao, Soumya Raychaudhuri, S. Mallal, Zhan Ye, John Mayer, Murray H. Brilliant, Scott J. Hebbring, Dan M. Roden, Elizabeth J. Phillips, Joshua C. Denny,

Tópico(s)

Immunodeficiency and Autoimmune Disorders

Resumo

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

Referência(s)