南方汉族人群钙蛋白酶10基因多态性与妊娠糖尿病的相关性

目的:探讨南方汉族人群钙蛋白酶10基因(CAPN-10)SNP-43、-19、-63多态性与妊娠糖尿病(GDM)遗传易感性的关系。方法:采用病例对照研究方法,依据葡萄糖耐量试验结果,随机选取120例OGTT正常的孕妇(NGT)和60例无需治疗的IGT及60例需胰岛素治疗的GDM患者为研究对象,分别提取基因组DNA,并行基因测序,再分析CAPN-10基因SNP-43、-19、-63位点基因型,并进行相关分析。结果:与NGT组及IGT组比较,GDM患者SNP-43位点等位基因G及G/G基因型的频率显著升高,SNP-19位点等位基因D的频率也显著升高。此外,CAPN-10基因SNP-43基因变异中GG基因型与非GG基因型(GA+AA)相比,妊娠期体重指数显著增加。结论:在南方汉族人群中,CAPN-10基因SNP-43为GG纯合子的和SNP-19位点等位基因为D的妇女有较高的可能性孕期发展为GDM,究其原因可能是通过增加孕期体重的变化所致。

Relationship between gene polymorphism of calpain10 and gestational diabetes mellitus in south China

Objective:To explore the relationship between gene polymorphism of calpain10 at positions 43,19,63 and gestational diabetes mellitus in south China.Methods:According to the results of OGTT test, 60 cases diagnosed as GDM with insulin treatment (GDM group), 60 cases diagnosed as IGT without treatment (IGT group) and 120 cases with normal glucose level in serum (NGT group) were randomly selected.DNA samples isolated form sera from the control and study groups were analyzed with respect to single-nucleotide polymorphisms of the calpain-10 gene at positions 43, 19 and 63.Results:The frequencies of homozygous for the allele G of single-nucleotide polymorphism 43 and allele D of 19 in GDM group were significantly higher than those in NGT group and IGT group (P<0.05).The GG genotype of SNP-43 was related to a higher BMI gaining during pregnant time (P<0.05).Conclusion:The single-nucleotide polymorphisms of the calpain-10 gene at positions 43, 19 is associated with disturbances of glucose metabolisms during pregnancy.