江苏地区2型糖尿病易感基因单核苷酸多态性与妊娠期糖尿病关系的研究

A research on relationship between single nucleotide polymorphism of susceptibility genes of type 2 diabetes mellitus and gestational diabetes mellitus

目的探讨江苏地区2型糖尿病易感基因CDKAL1、CDKN2A-CDKN2B、TCF7L2及HHEX-IDE的单核苷酸多态性（SNP）与妊娠期糖尿病（GDM）的关系。方法采用病例对照法及多重SNaPshot SNP分型技术检测185例无GDM倾向的健康孕妇（对照组）及176例GDM孕妇（GDM组）CDKAL1、CDKN2A-CDKN2B、TCF7L2及HHEX-IDE的SNP位点基因分型,并对所有SNP位点进行连续不平衡分析。结果比较GDM组和对照组孕妇的等位基因频率,CDKAL1（rs7754840）的等位基因C为GDM的一个危险因素。CC型携带者患GDM的风险是未携带者的1.73倍[P〈0.01,OR=1.73,95%CI：1.28~2.33]。CDKN2A-CDKN2B（rs10811661）、TCF7L2（rs7903146）及HHEX-IDE（rs1111875）检测位点的基因分布差异无统计学差异（P〉0.05）。CDKAL1（rs7754840）、CDKN2A-CDKN2B（rs10811661）、TCF7L2（rs7903146）及HHEX-IDE（rs1111875）的基因型频率均符合遗传平衡法则。结论 CDKAL1（rs7754840）与江苏地区GDM易感密切相关。

Objective To investigate the relationship between single nucleotide polymorphism （SNP） of susceptibility genes CD-KAL1 ,CDKN2A-CDKN2B ,TCF7L2 and HHEX-IDE of type 2 diabetes mellitus and gestational diabetes mellitus （GDM） in Jiangsu region .Methods 185 healthy pregnant women without GDM tendency （control group） and 176 pregnant women with GDM （GDM group） were enrolled .Case-control method and Multiplex SNaPshot SNP genotyping technology were utilized to detect genotypes at SNP loci of CDKAL1 ,CDKN2A-CDKN2B ,TCF7L2 and HHEX-IDE of pregnant women both in the two groups , and all SNP loci were subject to continuous disequilibrium analysis .Results Compared the allele frequencies of pregnant women in GDM group and the control group ,C allele of CDKAL1（rs7754840） was a risk factor for GDM .The risk of suffering GDM of CC genotype carriers was 1 .73 times the non-CC genotype carriers[P〈0 .01 ,OR=1 .73 ,95% CI：1 .28-2 .33] .No statistical difference wasfound in gene distribution of detection loci of CDKN2A-CDKN2B（rs10811661）,TCF7L2（rs7903146） and HHEX-IDE （rs1111875） .The genotype frequencies of CDKAL1（rs7754840） ,CDKN2A-CDKN2B（rs10811661） ,TCF7L2（rs7903146） and H HEX-IDE（rs1111875） were all accordance with the law of genetic equilibrium .Conclusion CDKAL1（rs7754840） is closely re-lated to GDM susceptibility in Jiangsu region .