关键词:

受体, 骨化三醇, 多态性, 单核苷酸, 糖尿病, 妊娠

Abstract:

Objective To investigate the relation of multiple single nucleotide polymorphisms（SNPs）of vitamin D receptor gene with gestational diabetes mellitus，in order touncover genetic susceptibility factors and pro⁃ vide a foundation for GDM prevention and treatment. Methods According to inclusion criteria，555 pregnant wom⁃ en diagnosed with GDM during 24 ~ 28 weeks were assigned to the case group，while 646 healthy pregnant women were assigned to the control group. Fluorescence quantitative PCR was used to genotype the VDR gene polymor⁃ phisms rs2228570 and rs739837.To investigate the relationship between polymorphisms in the VDR gene and GDM risk，multivariate logistic regression models were used. Results The frequency of GA genotype of rs2228570 in GDM group（52.43%）was higher than that in control group（50.77%），individuals with the GA genotype had a 2.80⁃ fold increased risk of developing GDM（OR = 2.80，95%CI：1.06 ~ 7.40，P = 0.038）；The frequency of AA geno⁃ type in GDM group（29.01%）was significantly higher than that in control group（24.15%），individuals with the AA genotype had a 3.98⁃fold increased risk of developing GDM（OR = 3.98，95%CI：1.23 ~ 12.86，P = 0.021）. The frequency of A allele of rs2228570 in GDM group was significantly higher than that in control group（55.23% vs. 49.54%，OR = 1.72，95%CI：1.04 ~ 2.85，P = 0.035）. The rs2228570 were associated with GDM in a dominant model （OR = 3.07，95%CI：1.20 ~ 7.86，P = 0.019）. There were no statistically significant differences in genotypes and allele frequency distribution of rs739837 between the case and control groups（P > 0.05）. Multivariate logistic regres⁃ sion analysis showed that family history of diabetes and rs2228570 polymorphism were independent risk factors for GDM（P＜0.05）. Conclusions The rs2228570 loci of VDR gene is associated with the pathogenesis of GDM， indicating that the vitamin D receptor gene might be one of the susceptibility genes to GDM in the Chinese population.

Key words:

receptors, calcitriol, polymorphism, single nucleotide, diabetes, gestational