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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。
Objective To investigate the association between single nucleotide polymorphisms in the promoter region of INS gene and the risk of type 2 diabetes and serum IAA-Ab levels. Methods Sequenom MassArray SNP typing was used to detect the SNPs of INS in 3 of 497 type 2 diabetic patients (case group) and 500 healthy controls (control group). The single nucleotide polymorphisms rs689, rs71464177 and rs3842738) were genotyped and the distribution of the two groups was analyzed. The level of IAA-Ab in diabetic patients was detected. The frequency distribution of SNP loci genotypes in case group and control group, IAA-Ab positive group and negative group were analyzed by χ2 test. The non-conditional Logistic regression analysis was used to correct the gender and age effect, and the odds ratio (OR) And 95% Confidence Interval (CI) to evaluate the association of polymorphic loci with susceptibility to type 2 diabetes and serum IAA-Ab levels. Results The distribution frequency of rs689AA, TT and AT genotypes were 58.75%, 28.77% and 12.47% in the case group and 50.40%, 35.60% and 14.00% respectively in the control group, with significant difference between the two groups (χ2 = 3.923, P <0.05). Compared with AA genotype, TT genotype had a decreased risk of developing diabetes, with a risk OR of 0.35 (95% CI: 0.18-1.06). The distribution frequencies of AA, TT and AT genotypes in IAA-Ab positive patients were significantly different from those in IAA-Ab negative patients (P <0.05). Conclusion The rs689 polymorphism of INS gene in Chinese population is associated with the risk of type 2 diabetes in Chinese population, and may be related to the level of IAA-Ab.