INS 基因遗传多态性与2型糖尿病发病风险及血清 IAA-Ab 水平相关性研究∗

摘要

Objective To investigate the relationship between polymorphisms of gene promoter region INS 5′UTR single nu-cleotide and type 2 diabetes and serum IAA-Ab levels.Methods By Sequenom MassArray SNP genotyping detection technology, INS 3 pyomter regime single nucleotide polymorphisms (rs689,rs714641 77 and rs3842738)of 497 patients in Chongqing with type 2 diabetes cases(treatment group)and 500 cases(control group)were genotyped and analyzed.IAA-Ab levels in diabetes patients was detected.Theχ2 test statistic was used to analyze the treatment group and control groups.The genotype frequency distribution of IAA-Ab-positive and negative groups SNP was analyzed by non-conditional logistic regression,adjusted for sex,age impact,cal-culated the odds ratio (OR)and 95 % confidence interval(CI ).The polymorphic loci with type 2 diabetes susceptibility and serum GAD-Ab levels was evaluated.Results The genotype frequency distribution of rs689AA,TT and AT was 58.75%,28.77% and 12.47%,respectively.The control group are 50.40%,35.60% and 14.00% respectively.The difference was statistically significant (χ2 =3.923,P <0.05).Compared with the genotype of AA,TT genotype can decrease risky of diabetes,with OR values 0.35(95%CI :0.18-1.06).There was significant difference of AA,TT,AT genotypes between IAA-Ab negative and IAA-Ab positive pa-tients (P < 0.05 ).Conclusion INS polymorphisms might be related to the risky of type 2 diabetes and serum IAA-Ab level in chinses population.%目的：探讨 INS基因启动子区单核苷酸多态性与2型糖尿病发病风险和血清IAA-Ab水平的相关性。方法利用Sequenom MassArray SNP 分型检测技术,对该院497例2型糖尿病患者(病例组)和500例健康体检人员(对照组)INS 的3个启动子区单核苷酸多态性位点(rs689、rs71464177和 rs3842738)进行基因分型并分析两组间分布情况；检测糖尿病患者 IAA-Ab 水平。用χ2检验统计分析病例组和对照组,病例中 IAA-Ab 阳性组和阴性组的 SNP 位点基因型频率分布,采用非条件 Logistic 回归分析,校正性别、年龄影响,计算比数比(OR)和95%置信区间(CI ),评价多态性位点与2型糖尿病易感性和血清 IAA-Ab 水平的相关性。结果rs689AA、TT、AT 基因型在病例组的分布频率分别为58.75%、28.77%和12.47%,在对照组的分布频率分别为50.40%、35.60%和14.00%,两组间差异有统计学意义(χ2=3.923,P <0.05)；且相对于 AA 基因型,TT 基因型者患糖尿病的危险性减少,风险度 OR 值为0.35(95% CI ：0.18~1.06)。AA、TT、AT 各基因型在 IAA-Ab 阳性患者的分布频率与 IAA-Ab 阴性患者比较差异有统计学意义(P <0.05)。结论中国人群 INS 基因 rs689位点多态性与中国人群2型糖尿病发病风险相关,并且可能与 IAA-Ab 水平相关。