ArticleDiabetes, obesity & metabolism2009
Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1.
Article in Diabetes, obesity & metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Conditional meta-analysis stratifying on detailed HLA genotypes identifies a novel type 1 diabetes locus around TCF19 in the MHC.Human genetics · 2011Pooled it
- InTiCAR: Network-based identification of significant inter-tissue communicators for autoimmune diseases.Computational and structural biotechnology journal · 2025Article
- The MHC Class II Antigen-Processing and Presentation Pathway Is Dysregulated in Type 1 Diabetes.Journal of immunology (Baltimore, Md. : 1950) · 2023Article
- Identification of multiple novel susceptibility genes associated with autoimmune thyroid disease.Frontiers in immunology · 2023Article
- Combination of HLA-DQ2/-DQ8 Haplotypes and a Single MSH5 Gene Variant in a Polish Population of Patients with Type 1 Diabetes as a First Line Screening for Celiac Disease?Journal of clinical medicine · 2022Article
- What the HLA-I!-Classical and Non-classical HLA Class I and Their Potential Roles in Type 1 Diabetes.Current diabetes reports · 2019Review
- Article
- Genome-wide association study of hepatitis C virus- and cryoglobulin-related vasculitis.Genes and immunity · 2014Article
- Refinement of the MHC risk map in a scandinavian primary sclerosing cholangitis population.PloS one · 2014Article
- MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases.Current genomics · 2013Article
- HLA class II SNP interactions and the association with type 1 diabetes mellitus in Bengali speaking patients of Eastern India.Journal of biomedical science · 2013Article
- Risk factors and primary prevention trials for type 1 diabetes.International journal of biological sciences · 2013Review
- Unraveling the genetic component of systemic sclerosis.Human genetics · 2012Review
- Genotyping of single nucleotide polymorphisms by 5' nuclease allelic discrimination.Methods in molecular biology (Clifton, N.J.) · 2012Article
- Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.PLoS genetics · 2011Article
- Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.PLoS genetics · 2011Article
- Selective IgA deficiency in autoimmune diseases.Molecular medicine (Cambridge, Mass.) · 2011Review
- Genetic determinants of HSP70 gene expression following heat shock.Human molecular genetics · 2010Article
- Genetic variation within the HLA class III influences T1D susceptibility conferred by high-risk HLA haplotypes.Genes and immunity · 2010Article
- The type 1 diabetes - HLA susceptibility interactome--identification of HLA genotype-specific disease genes for type 1 diabetes.PloS one · 2010Article
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
aimSeveral studies have indicated that genes in the human leucocyte antigen (HLA) region additional to the HLA class II DRB1-DQB1 contribute to type 1 diabetes (T1D) susceptibility. The aim of this study was to assess if markers in the class III Major Histocompatibility Complex (MHC) region are associated with T1D after accounting for linkage disequilibrium (LD) with DRB1-DQB1.
methodsWe investigated 356 single nucleotide polymorphisms (SNPs) in the class III region covering 1.1 megabases in two subsets of data: 289 Human Biological Data Interchange (HBDI) Caucasian families and 597 additional Caucasian families collected by the Type 1 Diabetes Genetics Consortium (T1DGC). Analysis conditioning on DRB1-DQB1 was performed using the overall conditional genotype method.
resultsThirteen SNPs replicated in both subsets of the data and showed evidence of an additional effect on disease risk. Although some of the SNPs are in tight LD with each other, at least six of the associations were not because of LD with other class III markers. The strongest association within class III markers was with rs2395106 that maps 5' to the NOTCH4 gene, which has also been implicated in susceptibility to rheumatoid arthritis. The second association was with rs707915 mapping to the MSH5 gene, in a block of six markers significantly associated with T1D after adjusting for LD with DR-DQ. In total, six-independent associations within class III were observed although results were not adjusted for LD with class I.
conclusionsOur data confirm that the class III region is involved in T1D susceptibility and suggest that more than one gene in the region is involved.
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