ArticleNature genetics2015
Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 172 papers, 6 of them syntheses that pooled it.
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Who cites it
172 citing papers in PubMed, 6 syntheses or guidelines pooled it, 280 citations in OpenAlex.
- Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome.Communications biology · 2025Pooled it
- Immune checkpoint inhibitor- and phosphatidylinositol-3-kinase inhibitor-related diabetes induced by antineoplastic drugs: two case reports and a literature review.Frontiers in endocrinology · 2023Pooled it
- The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.Nature communications · 2020Pooled it
- Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression.Biological psychiatry · 2020Pooled it
- Immune checkpoint inhibitor-induced Type 1 diabetes: a systematic review and meta-analysis.Diabetic medicine : a journal of the British Diabetic Association · 2019Pooled it
- Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.Journal of the American Society of Nephrology : JASN · 2018Pooled it
- Genome-wide pharmacogenetics of anti-drug antibody response to bococizumab highlights key residues in HLA DRB1 and DQB1.Scientific reports · 2022Trial
- Endocrine-Metabolic Crosstalk Between Diabetes Mellitus and Hypothyroidism: From Network Mechanisms to Translational Stratification.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
- Article
- Personalized medicine as a novel therapeutic approach for autoimmune diseases: new insights and future prospects.Osong public health and research perspectives · 2026Article
- Genome-wide association study identifies protective genetic factors in active blood donors against multiple diseases.European journal of human genetics : EJHG · 2026Article
- Genetic association and machine learning improve the prediction of type 1 diabetes risk.Nature genetics · 2026Article
- Identification of a type 1 diabetes-associated T cell receptor repertoire signature from the human peripheral blood.Science advances · 2026Article
- Ancient DNA study provides clues to leprosy susceptibility in medieval Europe.Genome biology · 2026Article
- HLA-DQB1*06:02 and a critical amino acid variant in protection against occult hepatitis B virus infection.Frontiers in immunology · 2026Article
- Article
- First genome-wide association study reveals immune-mediated aetiopathology in idiopathic achalasia.Gut · 2025Article
- HLA loci heterozygosity modulates genetic risk in idiopathic inflammatory myopathies.Annals of the rheumatic diseases · 2025Article
- Genetic and epigenetic landscape of male infertility.Trends in genetics : TIG · 2025Review
- Decoding ancestry-specific genetic risk: interpretable deep feature selection reveals prostate cancer SNP disparities in diverse populations.BioData mining · 2025Article
112 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 5 countries.
Funding
Abstract
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 57 (previously known; P = 1 × 10(-1,355)) by itself explained 15.2% of the total phenotypic variance. Independent effects at HLA-DRβ1 positions 13 (P = 1 × 10(-721)) and 71 (P = 1 × 10(-95)) increased the proportion of variance explained to 26.9%. The three positions together explained 90% of the phenotypic variance in the HLA-DRB1-HLA-DQA1-HLA-DQB1 locus. Additionally, we observed significant interactions for 11 of 21 pairs of common HLA-DRB1-HLA-DQA1-HLA-DQB1 haplotypes (P = 1.6 × 10(-64)). HLA-DRβ1 positions 13 and 71 implicate the P4 pocket in the antigen-binding groove, thus pointing to another critical protein structure for T1D risk, in addition to the HLA-DQ P9 pocket.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.