摘要
目的 探讨Calpain 10基因 (CAPN 10 )单核苷酸多态性SNP4 3、SNP19与 2型糖尿病 (T2DM )遗传易感性的关系。方法 采用病例 -对照研究方法 ,以聚合酶链式反应限制性内切酶长度多态性 (PCR RFLP)技术 ,对 12 0例随机 2型糖尿病患者和 132例无亲缘关系并且无糖尿病家族史的健康对照者的CAPN 10基因SNP4 3,SNP19多态性进行基因分型 ,同时对两组人群口服 75克葡萄糖后 0、12 0分钟分别测定其血清中葡萄糖 (BG)、胰岛素 (INS)、C肽(C P)含量 ,及空腹总胆固醇 (TC)、甘油三酯 (TG)、高密度脂蛋白胆固醇 (HDL C)、低密度脂蛋白胆固醇 (LDL C)和糖基化血红蛋白 (HbA1c)。结果 ①与对照组相比 ,2型糖尿病患者中CAPN 10基因SNP4 3的G等位基因频率显著升高 (分别为 92 %和 84 % ,P <0 .0 1)。CAPN 10基因SNP4 3基因多态性两组的GG基因型与腰臀比增加有关 ;②CAPN 10基因SNP19等位基因频率在两组中分布差异无统计学意义 ;③ 2型糖尿病组各项生化指标 (除外胰岛素、C肽、高密度脂蛋白胆固醇 )均高于健康对照组。结论 CAPN 10基因SNP4 3基因多态性GG基因型直接或间接与 2型糖尿病的遗传易感性相关。
Objective To investigate the impact of ca lpain-10(CAPN-10) gene combined single nucleotide polymorphism(SNP) variation on type 2 diabetes(T2DM) ,and its related clinical metabolitic traits. Methods Case-control study was conducted for the population of 252 Chinese residents in Ningxia.Among them,132 were normol control subjects,and 120 with T2DM. Polymerase chain reaction-restriction fragment lenth polynorphism(PCR-RFLP) method was used to determine the distribution of allele and genotype frequencies of SNP 43 polymorphism(G/A) and SNP19(1/2) in the intron 3 of CAPN-10 gene.Plasma glucose(PG),insulin(INS),c-peptide(C-P) levels were measured at fasting and 120 minutes after oral 75 g glucose challege.At the mean time, TC,TG,HDL-C,and LDL-C levels were measured. Results ①The frequency of “G” allele of the SNP43 in type 2 diabetes patients was significantly increased as compared with that in the control subjects (92% vs 84%,P< 0.01). The association was shown between Genotype and body mass index and WHR in the two groups.②The distribution of allele and genotype frequency of the SNP19 (1/2) polymorphism were equal in diabetes and control groups.③The variation of clinical metabolic parameter leverls were different between normal and T2DM groups. Conclusion CAPN-10 gene may directly or indirectly contribute to the genetic susceptibility of type 2 diabetes.
出处
《临床荟萃》
CAS
北大核心
2005年第1期12-15,共4页
Clinical Focus
基金
国家自然科学基金 (30 2 60 0 4 5)
宁夏自然科学基金 (A40 0 5)
