钙蛋白酶10基因多态性与2型糖尿病胰岛素抵抗的研究

目的:观察天津地区汉族人群中是否存在钙蛋白酶10(CAPN10)UC SNP43G/A等位基因多态性,并探讨与2型糖尿病(T2DM)及胰岛素抵抗(IR)的关系。方法:随机抽取正常人125例(对照组)和2型糖尿患者255例(T2DM组)外周血白细胞基因组DNA,采用PCR-RFLP方法对CAPN10 UC SNP 43G/A基因多态性进行筛查,对突变基因进行克隆测序分析。根据T2DM组中是否有CAPN10 UC SNP43基因突变,分为CAPN10 UC SNP43(G/G型)和CAPN10 UC SNP43(G/A A/A型)2组。结果:T2DM组和对照组G等位基因的频率比较差异无统计学意义(P>0.05)。G/G型组和G/A A/A型组的BMI、空腹胰岛素(FINS)、HOMA-IR指数、空腹C-肽(C-P)、三酰甘油(TG)2组之间差异有统计学意义(P<0.05或P<0.01),G/G型组高于G/A A/A型组。结论:在中国天津地区汉族人群中存在CAPN10 UC SNP 43 G/A基因多态性,但与天津地区汉族人群T2DM无相关性,与IR相关的一些代谢指标相关,可能部分造成了2型糖尿病胰岛素抵抗。

Study On the Relationship between the Gene Polymorphism of CAPN 10 and the Resistance of Type 2 Diabetes Mellitus

Objective: To investigate the distribution of the gene polymorphism in CAPN 10 UC SNP43 G/A in the Han nationality population in Tianjin,and to assess the relationship between CAPN10 UC SNP43 G/A polymorphism of the gene and type 2 diabetes mellitus(T2DM)and insulin resistance. Methods: The participants included 125 control subjects and 255 T2DM patients. Genomic DNA was extracted from the collected blood samples. The UC SNP43 G/A polymorphism was determined by polymerase chain reaction-restrition fragment length polymorphism(PCR-RFLP)analysis. The polymorphic gene found by RFLP technique was cloned and sequenced. The clinical data were analyzed. Results: There was no significant difference of G allele frequency between diabetes group and control group(P > 0.05). In diabetes group,HOMA-IR index was higher in CAPN10 UC SNP43 G/G genotype subjects than those in CAPN10 UC SNP43 G/A A/A genotype subjects. There were significant differences between the two groups. There were significant differences in BMI,FINS,HOMA-IR,fasting C-P and TG between CAPN10 UC SNP43 G/G genotype subjects,CAPN10 UC SNP43 G/A and A/A genotype subjects(P < 0.05). Conclusion: There is a UC SNP43 G/A polymorphism of calpain 10 gene in the Han nationality population in Tianjin. UC SNP43 G/A polymorphism of calpain 10 gene is associated with some indexes correlated insulin resistance. It may partly cause insulin resistance of type 2 diabetes.