·糖尿病分子生物学及遗传学·

　　【摘要】 目的 探讨我国褪黑色素受体1B(MTNR1B)基因SNP位点rs10380963和rs1387153的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，分别选取GDM患者(GDM组)184例和对照(NC)组235名,利用PCR-RFLP的方法测定两个SNP位点多态性分布，并进行统计学分析。 结果 GDM组FPG高于NC组(P=0.039)，但孕前BMI比较差异无统计学意义。SNP位点rs10380963基因型(GG,GC,CC)频率、等位基因频率与NC组比较，差异均无统计学意义(P=0.637，P=0.422)。而SNP位点rs1387153基因型(TT,CT,CC)与NC组比较，差异有统计学意义(P=0.012)，且风险基因型TT的频率高于NC组(TT vs TC+CC，P=0.01)。GDM组T等位基因高于NC组(OR:1.517,95%CI:1.147～2.006，P=0.003),且该SNP位点的TT基因型的GDM患者FPG高于其他两个基因型的患者。 结论 MTNR1B基因SNP位点rs10380963与GDM无相关性，而SNP位点rs1387153与GDM的易感性相关。

　　【关键词】 妊娠糖尿病;MTNR1B基因;多态性

　　【Abstract】 Objective To explore the association between the polymorphism of two single nucleotide (rs10380963 and rs1387153) of Melatonin receptor 1B (MTNR1B) gene and the genetic susceptibility of gestational diabetes mellitus(GDM) in China . Methods A case-control study including 184 women with GDM (GDM group) and 235 healthy subjects(NC group) was enrolled. The genotypes of two SNPs in MTNR1B gene were detected by PCR-RFLP and all the data were analyzed. Results The level of FPG was higher in the GDM group than in the NC group (P=0.039) , but there was no significant difference in BMI (P>0.05) before gestation . There was no difference in SNP rs10380963 gene (GG,GC,CC) and allele frequency between GDM group and NC group(P=0.637,P=0.422).The frequencies of SNP rs1387153 risk genotype TT for GDM group was higher than for NC group (TT vs TC+CC, P=0.010). The frequency of T allele was higher in GDM group than in the NC group(OR:1.517，95%CI:1.147～2.006, P=0.003). The level of FPG of GDM patients were higher in TT genotype than in CC or CT type. Conclusion The SNP (rs10380963 ) is not associated with GDM, and the SNP (rs1387153) is associated with GDM in pregnant Chinese women.

　　【Key words】 Gestational diabetes mellitus(GDM);Melatonin receptor 1B (MTNR1B) gene;Polymorphism