http://purl.uniprot.org/citations/11239517 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/11239517 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundThe HLA-DQB1 chain, in particular the amino acid in position 57, and genetic variants of the vitamin D-binding protein (DBP) have been reported to be associated with type 1 diabetes. There are two known polymorphisms in exon 11 of the DBP gene resulting in amino acid variants: codons 416 GAT --> GAG (Asp --> Glu) and 420 ACG --> AAG (Thr --> Lys). We compared distribution of DQB1 alleles and amino acid variants of DBP in type 1 diabetic patients (n = 44) in the Alsacian population and in healthy controls (n = 58).MethodsThe second exon of the DQB1 gene and exon 11 of DBP were analyzed by restriction mapping after polymerase chain reaction.ResultsA significant enrichment in DQB1 alleles encoding for an amino acid different from Asp in position 57 (NA) was observed in diabetic subjects as compared to controls (94.3 vs. 32.8%; p < 0.001). Combinations other than Ala/Ala carried the highest relative risk (OR = 52; p < 0.001). The analysis of the polymorphism in exon 11 of DBP showed a significant difference in the allele frequency of the HaeIII site, but not of the StyI site between patients and controls. Allele frequencies of HaeIII in diabetic subjects were 36% and 64% for Asp and Glu respectively (p < 0.001; chi(2) = 29.5). The frequency of Asp/Asp and Glu/Glu genotypes was increased in controls and diabetic subjects respectively. DBP alleles in individuals carrying the DQB1 NA combination revealed that 46.6% of diabetics were DBP Asp/Glu, but this was not statistically significant using the Fisher exact test (16/31 vs. 0/3; p = 0.23).ConclusionsThe study of the DQB1 chain confirmed the value of alleles encoding for an amino acid different from Asp in position 57 (NA) in the susceptibility to type 1 diabetes. The allele frequency of the HaeIII site, but not of the StyI site, differed between patients and controls (HaeIII p < 0.001; StyI p > 0.05)."xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0009-9120(00)00197-1"xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/author | "Belcourt A."xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/author | "Kaltenbacher M.C."xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/author | "Ongagna J.C."xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/author | "Pinget M."xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/author | "Sapin R."xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/name | "Clin Biochem"xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/pages | "59-63"xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/title | "The HLA-DQB alleles and amino acid variants of the vitamin D-binding protein in diabetic patients in Alsace."xsd:string |
http://purl.uniprot.org/citations/11239517 | http://purl.uniprot.org/core/volume | "34"xsd:string |
http://purl.uniprot.org/citations/11239517 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11239517 |
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