CAPN-10基因多态性与2型糖尿病遗传易感性及其相关危险因素的研究

摘要

Objective To investigate the relationship between the genetic polymorphism of CAPN-10 at sites 19,43 and 63 and the genetic susceptibility to type 2 diabetes mellitus(T2DM),and the influential factors on the occurrence of T2DM.Methods The research was a case-control study.Restriction fragment length polymorphism(PCR-RFLP) method was used to determine the distribution of allele and genotype frequencies of SNP19 polymorphism(1/2),SNP43 polymorphism(G/A) and SNP63 polymorphism(C/ T) in CAPN-10 gene among 100 patients with T2DM(T2DM group) and 100 subjects(control group).Also this paper explored the influential factors on the occurrence of T2DM by means of Logistic regression analysis.Results The distribution of genotypes frequencies at sites 19,43 and 63 of CAPN-10 gene accorded to Hardy-Weinberg's equation law.which showed the gene frequency to meet the genetic equilibrium(P＞0.05),the geno type frequency distribution with group representative.The frequency of GG genotype of site 43 in T2DM group(90 ％) was significantly higher than the control group(75 ％),the difference was statistically significant(P＜0.05).The frequency of G allele of site 43 was 95 ％ in T2DM group,which was significantly higher than the control group (87.5 ％),the difference was statistically significant(P＜0.01).There was no significant difference in genotypic frequencies and allele frequencies of site 19,63 between T2DM group and control group(P＞0.05).Age,family history of diabetes,fasting plasmaglucose and 2-hour palsma glucose in T2DM group were significantly higher than the control group,the difference was statistically significant((P＜0.05).The result of Logistic regression analysis indicated that CAPN-10 gene polymorphism loci of 43,family history of diabetes,age and BMI were risk factors on T2DM.Conclusion CAPN-10 gene may lead to the genetic susceptibility to T2DM.The CAPN-10 gene polymorphism loci of 16 and 63 may not be associated with T2DM susceptibility.G allele of site 43 is an important risk factor on T2DM possibly.The research results indicate that CAPN-10 gene polymorphism loci of 43,family history of diabetes,age,fasting plasma-glucose are 2-hour plasma glucose were closely related to the occurrence of T2DM.%目的 探讨CAPN-10基因19、43及63位点多态性与2型糖尿病遗传易感性的关系,同时探讨2型糖尿病发生、发展相关的危险因素.方法 运用病例对照研究方法,采用PCR-RFLP技术对100例2型糖尿病患者(T2DM组)和100例体检健康者(对照组)的CAPN-10基因19、43及63多态性位点进行基因分型.采用Logistic回归对T2DM发生、发展有关的危险因素进行相关性分析.结果 CAPN-10基因的19、43、63位点的基因型频率经Hardy-Weinberg定律检验,均符合遗传平衡法则,表明各基因频率满足遗传平衡(P＞0.05),基因型频率分布具有群体代表性.43位点GG基因型频率在T2DM组显著高于对照组(90％ vs 75％),差异有统计学意义(P＜0.05);G等位基因频率在T2DM组显著高于对照组(95％ vs 87.5％),差异有统计学意义(P＜0.01).19位点和63位点的基因型频率、等位基因频率在T2DM组与对照组分布差异均无统计学意义(P＞0.05).T2DM组的年龄、糖尿病家族史、FPG和2h-PG均较对照组升高,差异有统计学意义(P＜0.05).Logistic回归分析显示:CAPN-10基因SNP43位点多态性、糖尿病家族史、BMI、年龄增加T2DM发生的危险度,可能是其重要危险因素.结论 CAPN-10基因SNP43位点G等位基因可能与T2DM的发生有关,而16和63位点则与T2DM发生无明显关系.CAPN-10基因SNP43位点多态性、糖尿病家族史、BMI和年龄是T2DM发生的重要危险因素.