AHSG基因SNPs与2型糖尿病相关性研究

Study on AHSG Gene SNPs and Their Correlation With Type 2 Diabetes Mellitus

目的研究AHSG基因SNPs在重庆地区T2DM患者和正常健康对照中的基因型频率、等位基因频率、单体型频率以及分布特征,以及AHSG等位基因、基因型及单体型与T2DM的相关性。方法(1)采用等位基因特异PCR(A llele-spec ific PCR,AS-PCR)技术检测T2DM患者及对照组AHSG基因2个位点的SNP。(2)应用聚类分析方法分析基因多态性特征。结果1、SNPrs1 0715 92(C/A)(1)rs1071592基因型频率分布:T2DM组与对照组分别为C/C基因型为0.716 7/0.622 5,C/A基因型为0.166 7/0.200 0,A/A基因型为0.116 6/0.137 5。两组间等位基因型分布频率无显著差异(P值为0.1763 8)。(2)rs1 071 592(C/A)等位基因频率:rs1 071 592的优势等位基因是C,其在T2DM组与对照组分别为0.800 0/0.722 5;A等位基因在两组中分别为0.200 0/0.237 5,P值为0.023 7,分布差异显著。2、SNPrs2 248 690(A/T)(1)rs2 248 690基因型频率分布:T2DM组与对照组分别为:A/A基因型为0.700 0/0.682 5,A/T基因型为0.158 3/0.150 0,T/T基因型为0.141 7/0.162 5。两组间等位基因型分布频率无差异(P值为0.2135 1)。(2)rs1 071 592(C/A)等位基因频率:rs1 071 592的优势等位基因是A,其在T2DM组与对照组分别为0.78/0.76;T等位基因在两组中分别为0.22/0.24,P值为0.08,分布无显著差异。3、患者组和正常对照组单体型频率的分布SNPrs1 071 592与SNPrs2 248 690的等位基因可构成四种单体型,其中CA型在中国汉族中最常见。T2DM患者及对照组分别为0.625 0/0.562 5,CT型为0.175/0.175,AA型为0.158/0.200,最少的是AT,只有0.042 0/0.062 5。其中AA单体型和AT单体型的分布具有统计学差异(P值分别为0.016及0.013)。结论重庆地区T2DM患者和正常人AHSG基因2个位点SNP基因型频率、等位基因频率及单体型频率的分布特征为认识T2DM患者提供了信息;rs1071592等位基因A与T2DM有较强的相关性,携带AA及AT单体型人群罹患2型糖尿病的风险可能较正常人群高。

Objective To study the genotype distribution .and the allelic frequency distribution of SNPs at 2 sites of AHSG gene including SNPrs1071592 and SNPrs2248690. and study genotype distribution, allelic frequency distribution of SNPs of rs1071592 and rs2248690 of AHSG gene and their association with Type 2 diabetes in T2DM patients in Chongqing area. Methods 1 The SNPs of rsl 701 592 and rs2248690 were genotyped by AS - PCR （Allele - specific PCR）. 2 The genotypes combination distribution of SNPs at 2 sites of AHSG gene was determined by chi - square test. Results 1 SNPrs1 071 592（C/A） （ 1 ）The allele C frequencies of SNP rs1 071 592 in type 2 diabetes patients and control subjects were：0.80/0.74, the allele A frequencies 0.20/ 0. 26 respectively. The difference between the two groups was significant. （P =0.0237）. （2） Genotypes frequencies of rs1071592 in type 2 diabetes patients and control subjects were respectively C/C 0.716 7/0.622 5, C/A 0.166 7/0. 200 and A/A 0.116 7/0.137 5, there was no significant difference between the two groups（P =0. 17638）. 2 SNPrs2248690（A/T） （1）The allele A frequencies of SNP rs2248 690 in type 2 diabetes patients and control subjects were：0. 78/ 0.76 ,the allele T frequencies 0.22/0.24 respectively, there was no significant difference between the two groups （P = 0.08） （2） Genotypes frequencies of rs2 248 690 in type 2 diabetes patients and control subjects were respectively A/A 0. 7000/0.6825 ,A/T 0. 1583/0. 1500 and T/ T 0.141 7/0. 1625 ,there was no significant difference between the two groups（ P =0. 21351 ）. 3 Haplotypes The most common haplotype of AHSG polymorphism among Chinese han population were CA,with respective haplotype frequencies in both groups were 0. 6250/0. 5625. The other three haplotypes were. CT was 0. 175/0. 175, AA was 0. 158/0.200 and AT was 0. 042/ 0. 625. Among the four haplotypes,the distribution of AA and AT haplotypes showed significant difference between the two groups（P 〈0. 05）. Conclusions 1 Our study found the features of genotypes combination distribution and frequency distribution of SNPs of AHSG and provided the basic laboratory data to study relationships among AHSG SNPs,its function and diseases. 2 We found allele A of rsl 071 592 had strong relationship with T2DM, and the distribution of AA and AT haplotypes showed significant difference between the two groups.