The Gas6 gene rs8191974 and Ap3s2 gene rs2028299 are associated with type 2 diabetes in the northern Chinese Han population

摘要

Previous studies in other countries have shown thatsingle nucleotide polymorphisms (SNPs) in the growtharrest-specific gene 6 (Gas6; rs8191974) and adapter-related protein complex 3 subunit sigma-2 (Ap3s2;rs2028299) were associated with an increasedrisk fortype 2 diabetes mellitus (T2DM). However, the associationof these loci with T2DM has not been examinedin Chinese populations. We performed a replicationstudy to investigate the association of these susceptibilityloci with T2DM in the Chinese population.We genotyped 1968 Chinese participants (996 withT2DM and 972controls) for rs8191974 in Gas6 andrs2028299 near Ap3s2, and examined their associationwith T2DM using a logistic regression analysis.We also analyzed the correlation of genotypes andclinical phenotypes. The distribution of the T alleleof SNP rs8191974 in the Gas6 gene was significantlydifferent between T2DM cases and controls whencompared with the C allele (P<0.05, OR: 0.80，95%CI: 0.69–0.94). The occurrence of the CT genotype andthe dominant model was also significantly less frequentin the T2DM cases vs. controls when comparedwith the CC genotype (CT vs. CC: P<0.05, OR: 0.75,95% CI:0.62–0.90; TT+CT vs. CC: P<0.05, OR:0.75, 95%CI:0.63–0.90). In SNP rs2028299, the allele C showedno statistically significant differencein distributionbetween the control and T2DM groups when comparedwith allele A. However, in male populations, thedominant model was statistically more frequent whencompared with genotype AA (CC+CA vs. AA: P<0.05,OR:1.29, 95% CI:1.02–1.64), and in obesity-stratifiedanalysis, we also observed a significant difference inthe distribution of the dominant model between theT2DM cases and controls in subjects with BMI≥24 kg/m2 and BMI<28kg/m2 (CC+CA vs. AA: P<0.05, OR: 6.33,95% CI:4.17–9.61). In conclusion, our study shows thatSNPsrs8191974 and rs2028299 are significantly associatedwith T2DM in the Chinese population.