Study On Association Between PSMA6 Gene Rs1048990 Polymorphisms And T2DM In Han And Dongxiang Population In Gansu

Objective: To investigate the distribution of PSMA6 gene rsl048990 polymorphism in Han and Dongxiang population in Gansu province; And to investigate the associations with PSMA6 gene rs1048990 polymorphism and type 2 diabetes mellitus in Han and Dongxiang population in Gansu province.Methods: We conducted a case-control study with 509 patients . Among the total, 261 subjects were Dongxiang population. Among them, 144 were normal controls and 117 were T2DM patients. And among the total, 248 subjects were Han population. Among them, 136 were normal controls and 112 were T2DM patients, with integrated records of body height, body mass, waistline, hip circumference, blood pressure, fasting plasma glucose, fasting plasma insulin, blood fat. Compute the waist hip ratio (WHR), body mass index (BMI) and insulin resistance index (HOMA-IR). All subjects were underwent a standard 75g-standard OGTT screening. The subjects were genotyped for one single nucleotide polymorphism (-8C/G) in exon 1 of PSMA6 gene by polymerase chain reaction (PCR) - restriction fragment length polymorphism (RFLP). Excel was used to build database, SPSS 10.0 was used for analyses.Results: 1. Patients with T2DM were correlated with central obesity, insulin resistance, hypertension and dyslipidemia in Han and Dongxiang population in Gansu province. 2. In Dongxiang population, genotype frequencies of PSMA6 of CC, CG, GG were 0.806, 0.180, 0.014 and 0.675, 0.274, 0.051 in NGT group and T2DM group , respectively; And allele frequencies of C, G were 0.890, 0.110 and 0.812, 0.188 in NGT group and T2DM group, respectively; There were significant differences in frequencies of genotypes and alleles in PSMA6 polymorphism between NGT group and T2DM group (both P<0.05). 3. In Han, genotype frequencies of PSMA6 of CC, CG, GG were 0. 684, 0. 301, 0. 015 and 0. 536, 0. 402, 0. 062 in NGT group and T2DM group, respectively; And allele frequencies of C, G were 0.835, 0.175 and 0.737, 0.263 in NGT group and T2DM group, respectively; There were significant differences in frequencies of genotypes and alleles in PSMA6 polymorphism between NGT group and T2DM group (both P<0.05). 4. Anthropometric and clinical features comparison between NGT group and T2DM group in Dongxiang population. In NGT group, the subject with CG+GG genotype had the significant increasing levels of FPG, HOMA-IR, SBP, DBP, TC compared with those who carrying CC genotype (P<0.05); In T2DM group, the patients carrying CG+GG genotype had the significant increasing levels of DBP compared with those who carrying CC genotype (P<0.05). 5. Anthropometric and clinical features comparison between NGT group and T2DM group in Han population. In NGT group, the subjects with CG+GG genotype had the significant lowering levels of FPI compared with those who carrying CC genotype (P<0.05); However, the patients carrying CG+GG genotype had the significant increasing levels of FPI compared with those who carrying CC genotype in T2DM group, but there was not significant difference in statistics (P>0.05). 6. In Han, the subjects with CC genotype had the increasing levels of HOMA-IR compared with those who carrying CG+GG genotype in NGT group; However, the result is reverse in T2DM group. But there were no statistically significant in two groups , respectively (P>0.05).Conclusion: The distribution of PSMA6 gene rsl048990 polymorphism appears to be different from the area and race. Patients with T2DM were correlated with central obesity, insulin resistance, hypertension and dyslipidemia in Han and Dongxiang population. The variations of PSMA6 gene may contribute to the susceptibility of T2DM in Han and Dongxiang population in Gansu province.