Associations Of Vitamin D Receptor And Vitamin D Binding Protein Gene Polymorphisms With Type1Diabetes In Hunan Hans

TID is a disease with multiple genetic associations. In recent years, genome-wide association studies (GWAS) have prompted the identification of multiple non-HLA genes that contribute to T1D susceptibility, including the vitamin D metabolism related genes. So far, some common SNPs of gene loci in the pathway of vitamin D metabolism that have been found to be associated with T1D in different ethnic groups include DHCR7, VDBP, VDR, CYP2R1, and CYP27B1. Nonetheless, there are not yet relevant studies in Chinese Hans. Objective:To investigate the relationship of type1diabetes (T1D) with single nucleotide polymorphism (SNP) of vitamin D receptor (VDR) coded genes in Hunan Han population.Methods:867subjects of Chinese Han origin were genotyped with polymerase chain reaction-restricted fragment length polymorphisms (PCR-RFLP), with437T1D patients and430healthy controls. Genotype distribution and allele frequencies were analyzed between the two groups. We further investigated the association of (3-cell function, age of onset, and islet autoantibodies in TID with the polymorphisms. Moreover, all individuals undergoing FokI genotyping were categorized into two groups according to their HLA-DQ susceptible haplotypes. Odds ratio and95%confidence interval of genotype Ff, ff and allele f were calculated to investigate the interaction of FokI and HLA-DQ on TID.Results:No deviations from the Hardy-Weinberg equilibrium (HWE) were observed in both study groups. In the population studied, there was no statistically significant difference in either genotype distribution or allele frequencies between TID patients and healthy controls (P>0.1, P>0.25, respectively).Conclusion:Our findings reveal no association of VDR (FokI) polymorphisms with T1D in Hunan Hans, but data suggest there is an interaction between f allele in FokI and HLA-DQ haplotypes on T1D. Objective:To investigate the relationship of type1diabetes (T1D) with single nucleotide polymorphism (SNP) of vitamin D binding protein (VDBP) coded genes in Hunan Han population.Methods:668subjects of Chinese Han origin were genotyped with polymerase chain reaction-restricted fragment length polymorphisms (PCR-RFLP), with362TID patients and306healthy controls. Genotype distribution and allele frequencies were analyzed between the two groups. We further investigated the association of β-cell function, age of onset, and islet autoantibodies in T1D with the polymorphisms. Moreover, all individuals undergoing rs4588genotyping were categorized into two groups according to their HLA-DQ susceptible haplotypes. Odds ratio and95%confidence interval of genotype CA, AA and allele A were calculated to investigate the interaction of rs4588and HLA-DQ on T1D.Results:No deviations from the Hardy-Weinberg equilibrium (HWE) were observed in both study groups. In the population studied, there was no statistically significant difference in either genotype distribution or allele frequencies between T1D patients and healthy controls (P>0.1, P>0.25, respectively).Conclusion:Our findings reveal no association of T1D with VDBP (rs4588) polymorphisms in Hunan Hans, but data suggest there is an interaction between A allele in rs4588and HLA-DQ haplotypes on T1D.