ArticleThe Journal of clinical endocrinology and metabolism2010
Haplotype analysis discriminates genetic risk for DR3-associated endocrine autoimmunity and helps define extreme risk for Addison's disease.
Article in The Journal of clinical endocrinology and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.The Journal of clinical endocrinology and metabolism · 2016Guideline
- Adrenal steroidogenesis after B lymphocyte depletion therapy in new-onset Addison's disease.The Journal of clinical endocrinology and metabolism · 2012Trial
- Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed.Genes · 2025Article
- Associations Between Clinical Manifestations of SARS-CoV-2 Infection and HLA Alleles in a Caucasian Population: A Molecular HLA Typing Study.Journal of clinical medicine · 2024Article
- 21-Hydroxylase-Specific CD8+ T Cells in Autoimmune Addison's Disease Are Restricted by HLA-A2 and HLA-C7 Molecules.Frontiers in immunology · 2021Article
- Analysis of cellular and humoral immune responses against cytomegalovirus in patients with autoimmune Addison's disease.Journal of translational medicine · 2016Article
- New approaches for predicting T cell-mediated drug reactions: A role for inducible and potentially preventable autoimmunity.The Journal of allergy and clinical immunology · 2015Review
- The next big idea.Diabetes technology & therapeutics · 2013Article
- Efficient haplotype block partitioning and tag SNP selection algorithms under various constraints.BioMed research international · 2013Article
- Genetic determinants of 21-hydroxylase autoantibodies amongst patients of the Type 1 Diabetes Genetics Consortium.The Journal of clinical endocrinology and metabolism · 2012Article
- Predicting the onset of Addison's disease: ACTH, renin, cortisol and 21-hydroxylase autoantibodies.Clinical endocrinology · 2012Article
- Dominant suppression of Addison's disease associated with HLA-B15.The Journal of clinical endocrinology and metabolism · 2011Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
contextMultiple autoimmune disorders (e.g. Addison's disease, type 1 diabetes, celiac disease) are associated with HLA-DR3, but it is likely that alleles of additional genes in linkage disequilibrium with HLA-DRB1 contribute to disease.
objectiveThe objective of the study was to characterize major histocompatability complex (MHC) haplotypes conferring extreme risk for autoimmune Addison's disease (AD). DESIGN, SETTING, AND
participantsEighty-six 21-hydroxylase autoantibody-positive, nonautoimmune polyendocrine syndrome type 1, Caucasian individuals collected from 1992 to 2009 with clinical AD from 68 families (12 multiplex and 56 simplex) were genotyped for HLA-DRB1, HLA-DQB1, MICA, HLA-B, and HLA-A as well as high density MHC single-nucleotide polymorphism (SNP) analysis for 34.
main outcome measuresAD and genotype were measured.
resultNinety-seven percent of the multiplex individuals had both HLA-DR3 and HLA-B8 vs. 60% of simplex AD patients (P = 9.72 × 10(-4)) and 13% of general population controls (P = 3.00 × 10(-19)). The genotype DR3/DR4 with B8 was present in 85% of AD multiplex patients, 24% of simplex patients, and 1.5% of control individuals (P = 4.92 × 10(-191)). The DR3-B8 haplotype of AD patients had HLA-A1 less often (47%) than controls (81%, P = 7.00 × 10(-5)) and type 1 diabetes patients (73%, P = 1.93 × 10(-3)). Analysis of 1228 SNPs across the MHC for individuals with AD revealed a shorter conserved haplotype (3.8) with the loss of the extended conserved 3.8.1 haplotype approximately halfway between HLA-B and HLA-A.
conclusionExtreme risk for AD, especially in multiplex families, is associated with haplotypic DR3 variants, in particular a portion (3.8) but not all of the conserved 3.8.1 haplotype.
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