Research ArticleGenomics

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

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Science Translational Medicine  10 May 2017:
Vol. 9, Issue 389, eaai8708
DOI: 10.1126/scitranslmed.aai8708

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Hints on health and disease from HLA

Each of us expresses a mix of different human leukocyte antigens (HLAs), which present self- and foreign peptides to T cells. Because slightly different peptides are presented by each HLA type, HLA expression can influence an individual’s susceptibility to disease. Karnes et al. scrutinized electronic health record information from tens of thousands of people in two distinct cohorts to compare their phenotypes to the HLA alleles they express. This study confirmed previously identified HLA associations and also identified new ones; most associations were related to autoimmune diseases. The researchers have made the catalog freely available so that other groups can mine the data for future discoveries about how HLAs drive different phenotypes.

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