The HLA-DQB alleles and amino acid variants of the vitamin D-binding protein in diabetic patients in Alsace
pmid: 11239517
The HLA-DQB alleles and amino acid variants of the vitamin D-binding protein in diabetic patients in Alsace
The 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).The second exon of the DQB1 gene and exon 11 of DBP were analyzed by restriction mapping after polymerase chain reaction.A 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 0.05).
Adult, Male, Polymorphism, Genetic, Adolescent, Genotype, Vitamin D-Binding Protein, Exons, Diabetes Mellitus, Type 1, Gene Frequency, HLA-DQ Antigens, HLA-DQ beta-Chains, Humans, Female, France, Chromosomes, Human, Pair 4, Child, Codon, Alleles, Polymorphism, Restriction Fragment Length
Adult, Male, Polymorphism, Genetic, Adolescent, Genotype, Vitamin D-Binding Protein, Exons, Diabetes Mellitus, Type 1, Gene Frequency, HLA-DQ Antigens, HLA-DQ beta-Chains, Humans, Female, France, Chromosomes, Human, Pair 4, Child, Codon, Alleles, Polymorphism, Restriction Fragment Length
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