title: The Gas6 gene rs8191974 and Ap3s2 gene rs2028299 are associated with type 2 diabetes in the northern Chinese Han population.
abstract: Previous studies in other countries have shown that single nucleotide polymorphisms (SNPs) in the growth arrest-specific gene 6 (Gas6; rs8191974) and adapter-related protein complex 3 subunit sigma-2 (Ap3s2; rs2028299) were associated with an increasedrisk for type 2 diabetes mellitus (T2DM). However, the association of these loci with T2DM has not been examined in Chinese populations. We performed a replication study to investigate the association of these susceptibility loci with T2DM in the Chinese population.We genotyped 1968 Chinese participants (996 with T2DM and 972controls) for rs8191974 in Gas6 and rs2028299 near Ap3s2, and examined their association with T2DM using a logistic regression analysis. We also analyzed the correlation of genotypes and clinical phenotypes. The distribution of the T allele of SNP rs8191974 in the Gas6 gene was significantly different between T2DM cases and controls when compared with the C allele (P<0.05, OR: 0.80, 95% CI: 0.69-0.94). The occurrence of the CT genotype and the dominant model was also significantly less frequent in the T2DM cases vs. controls when compared with 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 showed no statistically significant differencein distribution between the control and T2DM groups when compared with allele A. However, in male populations, the dominant model was statistically more frequent when compared with genotype AA (CC+CA vs. AA: P<0.05, OR:1.29, 95% CI:1.02-1.64), and in obesity-stratified analysis, we also observed a significant difference in the distribution of the dominant model between the T2DM cases and controls in subjects with BMI≥24 kg/m2and BMI<28kg/m2(CC+CA vs. AA: P<0.05, OR: 6.33, 95% CI:4.17-9.61). In conclusion, our study shows that SNPsrs8191974 and rs2028299 are significantly associated with T2DM in the Chinese population.
authors.affiliation: The Fifth Endocrine Department, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Elena V
authors.initials: EV
authors.lastname: Kazakova
authors.affiliation: The Fifth Endocrine Department, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Tianwei
authors.initials: T
authors.lastname: Zghuang
authors.affiliation: The Fifth Endocrine Department, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Li
authors.affiliation: The Fifth Endocrine Department, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Qingxiao
authors.initials: Q
authors.lastname: Fang
authors.affiliation: The Fifth Endocrine Department, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Han
authors.affiliation: The Fifth Endocrine Department, the Second Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Qiao
mesh_terms: D000483:Alleles; D044466:Asian People; D002681:China; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D000099255:Growth Arrest-Specific Protein 6
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; D000099255:Growth Arrest-Specific Protein 6
keywords: Ap3s2 gene; Gas6 gene; Type 2 diabetes mellitus; epidermal growth factor (EGF)-like; single nucleotide polymorphisms