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http://purl.uniprot.org/citations/23462545http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23462545http://www.w3.org/2000/01/rdf-schema#comment"The primary associations of the HLA class II genes, HLA-DRB1 and HLA-DQB1, and the class I genes, HLA-A and HLA-B, with type 1 diabetes (T1D) are well established. However, the role of polymorphism at the HLA-DRB3, HLA-DRB4, and HLA-DRB5 loci remains unclear. In two separate studies, one of 500 subjects and 500 control subjects and one of 366 DRB1*03:01-positive samples from selected multiplex T1D families, we used Roche 454 sequencing with Conexio Genomics ASSIGN ATF 454 HLA genotyping software analysis to analyze sequence variation at these three HLA-DRB loci. Association analyses were performed on the two HLA-DRB loci haplotypes (DRB1-DRB3, -DRB4, or -DRB5). Three common HLA-DRB3 alleles (*01:01, *02:02, *03:01) were observed. DRB1*03:01 haplotypes carrying DRB3*02:02 conferred a higher T1D risk than did DRB1*03:01 haplotypes carrying DRB3*01:01 in DRB1*03:01/*03:01 homozygotes with two DRB3*01:01 alleles (odds ratio [OR] 3.4 [95% CI 1.46-8.09]), compared with those carrying one or two DRB3*02:02 alleles (OR 25.5 [3.43-189.2]) (P = 0.033). For DRB1*03:01/*04:01 heterozygotes, however, the HLA-DRB3 allele did not significantly modify the T1D risk of the DRB1*03:01 haplotype (OR 7.7 for *02:02; 6.8 for *01:01). These observations were confirmed by sequence analysis of HLA-DRB3 exon 2 in a targeted replication study of 281 informative T1D family members and 86 affected family-based association control (AFBAC) haplotypes. The frequency of DRB3*02:02 was 42.9% in the DRB1*03:01/*03:01 patients and 27.6% in the DRB1*03:01/*04 (P = 0.005) compared with 22.6% in AFBAC DRB1*03:01 chromosomes (P = 0.001). Analysis of T1D-associated alleles at other HLA loci (HLA-A, HLA-B, and HLA-DPB1) on DRB1*03:01 haplotypes suggests that DRB3*02:02 on the DRB1*03:01 haplotype can contribute to T1D risk."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.org/dc/terms/identifier"doi:10.2337/db12-1387"xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"Noble J.A."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"Rich S.S."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"Todd J.A."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"Erlich H.A."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"Simen B.B."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"Valdes A.M."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"Blake L.A."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"McDevitt S.L."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/author"McGowan K.R."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/name"Diabetes"xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/pages"2618-2622"xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/title"Next generation sequencing reveals the association of DRB3*02:02 with type 1 diabetes."xsd:string
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/volume"62"xsd:string
http://purl.uniprot.org/citations/23462545http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/23462545
http://purl.uniprot.org/citations/23462545http://purl.uniprot.org/core/group"Type 1 Diabetes Genetics Consortium (T1DGC)"xsd:string
http://purl.uniprot.org/citations/23462545http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/23462545
http://purl.uniprot.org/uniprot/#_A0A0P1GLA1-mappedCitation-23462545http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23462545
http://purl.uniprot.org/uniprot/#_A0A0P1JEH2-mappedCitation-23462545http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23462545
http://purl.uniprot.org/uniprot/#_D0AB36-mappedCitation-23462545http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23462545
http://purl.uniprot.org/uniprot/#_D0AB37-mappedCitation-23462545http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23462545
http://purl.uniprot.org/uniprot/#_D0RB86-mappedCitation-23462545http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/23462545