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目的:探讨CAPN-10基因19、43及63位点多态性与妊娠期糖尿病遗传易感性的关系。方法:采用病例对照研究方法及PCR-RFLP技术对100例葡萄糖耐量正常的妊娠妇女(NGT组)和100例妊娠期糖耐量受损患者(GIGT组)及100例妊娠期糖尿病患者(GDM组)的CAPN-10基因19、43及63多态性位点进行基因分型。结果:①CAPN-10基因的19、43、63位点的基因型频率经Hardy-Weinberg平衡定律检验,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。②43位点GG基因型频率及G等位基因频率在GDM组均显著高于NGT组,差异有统计学意义(P<0.05),而在GIGT组与NGT组间差异无统计学意义。③19位点和63位点的基因型频率、等位基因频率在GDM组、GIGT组与NGT组差异均无统计学意义;19、43、63位点的基因型频率、等位基因频率在GIGT组与GDM组差异无统计学意义。结论:CAPN-10基因多态性可能与GDM遗传易感性有关;CAPN-10基因SNP43位点G等位基因可能与GDM的发生有关,其16和63位点则与GDM的发生无关。
Objective: To investigate the relationship between genetic polymorphisms of CAPN-10 gene at positions 19, 43 and 63 and genetic susceptibility to gestational diabetes mellitus. Methods: 100 cases of gestational diabetes mellitus (GDM group) and 100 pregnant women with impaired glucose tolerance (NGT group) and 100 gestational impaired glucose tolerance patients (GIGT group) were enrolled in this study by case-control study and PCR-RFLP technique. The CAPN-10 gene polymorphisms at 19, 43 and 63 were genotyped. Results: ①The genotype frequency of 19,43,63 loci in CAPN-10 gene was tested by Hardy-Weinberg equilibrium law, which accorded with the law of genetic balance, indicating that the genetic frequency of each gene met the genetic balance (P> 0.05) Group representation. ② The frequencies of GG genotypes and G allele in GDM group were significantly higher than those in NGT group at G4 (P <0.05), but there was no significant difference between GIGT and NGT groups. ③ The frequencies of genotypes and alleles at 19 and 63 sites were not significantly different between GDM group and GIGT group and NGT group. The frequencies of genotypes and alleles at 19, 43 and 63 sites were significantly higher in GIGT There was no significant difference between group and GDM group. Conclusion: The genetic polymorphism of CAPN-10 may be related to the genetic predisposition of GDM. The G allele of SNP43 of CAPN-10 gene may be related to the occurrence of GDM, while the loci of 16 and 63 are not related to the occurrence of GDM.