| http://purl.uniprot.org/citations/18065200 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18065200 | http://www.w3.org/2000/01/rdf-schema#comment | "HLA-DQB1 is widely considered to be the major histocompatibility complex (MHC) susceptibility gene for type 1 diabetes (T1D). However, since inheritance of the gene in T1D is recessive, the presence of the protective HLA-DQB1 0602 allele with normal nucleotide sequence in some patients raises the question of whether HLA-DQB1 is not the susceptibility locus itself but merely a good marker. HLA-DQB1 0602 is part of a conserved extended haplotype (CEH) [HLA-B7, SC31, DR2] (B7, DR2) with fixed DNA over more than 1Mb of genomic DNA that normally carries a protective allele at the true susceptibility locus. We postulated that, in patients with HLA-DQB1 0602, the protective allele at the susceptibility locus has been replaced by a susceptibility allele through an ancient crossover at meiosis centromeric to HLA-DQB1. We analyzed single nucleotide polymorphisms (SNPs) distinguishing the HLA-DQA2 (the first expressed gene centromeric to HLA-DQB1) allele on the normal HLA-B7, DR2 CEH from those on susceptibility CEHs in T1D patients and controls with HLA-DQB1 0602. All but 1 of 20 healthy control HLA-DQB1 0602 haplotypes had identical (consensus) first intron HLA-DQA2 5-SNP haplotypes. Fifteen of 19 patients with HLA-DQB1 0602 were homozygous for 1 or more HLA-DQA2 SNPs differing from consensus HLA-DQA2 SNPs, providing evidence of crossover involving the HLA-DQA2 locus. The remaining 4 patients were heterozygous at all positions and therefore uninformative. The loss of dominant protection usually associated with HLA-DQB1 0602 haplotypes is consistent with a locus centromeric to HLA-DQB1 being a major determinant of MHC-associated susceptibility, and perhaps the true T1D susceptibility locus."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jaut.2007.10.006"xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/author | "Kelly M.A."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/author | "Eisenbarth G.S."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/author | "Larsen C.E."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/author | "Pugliese A."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/author | "Alper C.A."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/author | "Awdeh Z.L."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/author | "Husain Z."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/name | "J Autoimmun"xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/pages | "266-272"xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/title | "The MHC type 1 diabetes susceptibility gene is centromeric to HLA-DQB1."xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://purl.uniprot.org/core/volume | "30"xsd:string |
| http://purl.uniprot.org/citations/18065200 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18065200 |
| http://purl.uniprot.org/citations/18065200 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/18065200 |
| http://purl.uniprot.org/uniprot/#_A0A0E3DC97-mappedCitation-18065200 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18065200 |
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| http://purl.uniprot.org/uniprot/#_A0A0A7C7I5-mappedCitation-18065200 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18065200 |
| http://purl.uniprot.org/uniprot/#_A0A0A7C853-mappedCitation-18065200 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/18065200 |
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