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Article

Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk.

Nature genetics - 1 Aug 2015

Hu Xinli, Deutsch Aaron J, Lenz Tobias L, Onengut-Gumuscu Suna, Han Buhm, Chen Wei-Min, Howson Joanna M M, Todd John A, de Bakker Paul I W, Rich Stephen S, Raychaudhuri Soumya

Abstract excerpt

Variation in the human leukocyte antigen (HLA) genes accounts for one-half of the genetic risk in type 1 diabetes (T1D). Amino acid changes in the HLA-DR and HLA-DQ molecules mediate most of the risk, but extensive linkage disequilibrium complicates the localization of independent effects. Using 18,832 case-control samples, we localized the signal to 3 amino acid positions in HLA-DQ and HLA-DR. HLA-DQβ1 position...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26168013
DOI: 10.1038/ng.3353
PMCID: PMC4930791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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