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Article

Haplotype analysis reveals pleiotropic disease associations in the HLA region.

American journal of human genetics - 7 Aug 2025

Smith Courtney J, Strausz Satu, Spence Jeffrey P, Ollila Hanna M, Pritchard Jonathan K

Abstract excerpt

The human leukocyte antigen (HLA) region plays an important role in human health through its involvement in immune cell recognition and maturation. While genetic variation in the HLA region is associated with many diseases, the pleiotropic patterns of these associations have not been systematically investigated. Here, we developed a haplotype approach to investigate disease associations phenome wide for 412,181...

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Identifiers

PMID: 40645183
DOI: 10.1016/j.ajhg.2025.06.011
PMCID: PMC12414721

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