·糖尿病分子生物学和遗传学·

　　【摘要】 目的 探讨我国南方人群中CDKAL1基因两个SNP位点rs7754840和rs10440833的多态性与GDM易感性的关系。 方法 采用病例对照研究，分别选取GDM患者(GDM组)153例和正常糖耐量的孕妇(NGT组)180名。采用多态性聚合酶链反应(PCR-RFLP)的方法测定两个SNP位点多态性分布，并行统计学分析。 结果 GDM组孕前BMI、FPG、TG均高于NGT组，TC、HDL-C及LDL-C均低于NGT组(P<0.05)。SNP位点rs7754840基因型(CC,GC,GG)频率和等位基因频率与NGT组比较，差异均无统计学意义(P=0.937、0.933);而SNP位点rs10440833基因型(AA,AT,TT)与NGT组比较，差异有统计学意义(P=0.024)，且风险基因型TT的频率高于NGT组(TT vs TC+CC，P=0.032);GDM组A等位基因频率高于NGT组[OR(95CI)：1.519(1.114～2.071)，P=0.008];AA基因型患者的FPG、TG高于其他基因型，而HDL-C低于其他基因型(P=0.023、0.029、0.012)。 结论 CDKAL1基因SNP位点rs7754840与GDM无相关性;而SNP位点rs10440833与GDM的易感性相关，且该位点多态性可能与血糖、TG及LDL-C的水平有关。

　　【关键词】 妊娠期糖尿病;临床特点;CDKAL1基因;多态性

　　【Abstract】 Objective To investigate the association between two single nucleotide polymorphisms (SNP)rs7754840 and rs10440833 in CDKAL1 gene and gestational diabetes mellitus (GDM) in Chinese women. Methods In this case-control study, 153 women with GDM (GDM group)and 180 pregnant women with normal glucose tolerance (NGT group)were recruited . The genotypes of the two SNPs in CDKAL1 gene were detected using PCR-RFLP. All the data were analyzed. Results BMI, fasting plasma glucose and TG before pregnancy were higher, but TC, HDL-C and LDL-C were lower in GDM group than in NGT group. There was no association between polymorphism (SNP rs7754840) and GDM (P=0.937). SNP(rs10440833) was associated with GDM (P=0.024), and the frequency of risk genotype TT was higher in GDM group than in controls (TT vs TC+CC, P=0.032). The frequency of A allele was higher in GDM group than in NGT group (OR=1.519，95%CI:1.114-2.071, P=0.008). The levels of FPG and TG were higher but HDL-C was lower in GDM patients with AA genotype than those with AT/TT genotype (P=0.023,0.029,0.012, respectively). Conclusion The SNP (rs7754840 ) was not associated with GDM. The SNP (rs10440833) was associated with GDM，and this polymorphism may have some effect on glucose and lipid metabolism.

　　【Key words】 GDM; Clinical characteristic; CDKAL1 gene; Polymorphism