重庆地区汉族人群多囊卵巢综合征与葡萄糖激酶调节蛋白基因多态性的相关性研究

Association of polymorphisms of glucokinase regulatory protein gene with polycystic ovarian syndrome in Chongqing Han population

摘要:

目的：探讨重庆地区汉族人群葡萄糖激酶调节蛋白（glucokinase regulatory protein，GCKR）基因位点单核苷酸多态性（single lenuclear polymorphisms，SNPs）与多囊卵巢综合征（polycystic ovary syndrome，PCOS）及其相关代谢指标的关系。方法：纳入PCOS 患者147例，正常对照156例；应用Taqman探针法对研究对象GCKR基因多态性位点rs3817488及rs780094进行基因分型；PCOS组及20例对照人群的胰岛素敏感性用高胰岛素-正葡萄糖钳夹方法评估。结果：PCOS患者GCKR基因位点rs3817588的基因型及等位基因分布频率与正常对照相比无统计学差异（OR=0.929，95%CI=0.541～1.594，?字2=0.72，P=0.79；OR=0.995，95%CI=0.759～1.304， ?字2=0.00，P=0.97），同时rs780094位点的基因型及等位基因分布频率与正常对照相比也无统计学差异（OR=1.427，95%CI=0.974～1.598， ?字2=2.74，P=0.10；OR=0.880，95%CI=0.700～1.107， ?字2=1.20，P=0.27）。结论：重庆地区汉族人群GCKR基因位点rs3817588与rs780094的单核苷酸多态性可能与PCOS的发生及相关代谢指标无明显相关性。

Abstract:

Objective：To explore the correlation of the glucokinase regulatory protein（GCKR） gene rs3817588 and rs780094 single nucleotide polymorphisms（SNPs） with polycystic ovary syndrome（PCOS） and its related metabolic indices in Chongqing Han popu－lation. Methods：Totally 147 patients with PCOS and 156 normal controls were recruited and genotyped by TaqMan SNP genotyp－ing assay；Hyperinsulinemic-euglycemic clamp was performed on all patients and 20 controls. Results：Nither statistical differences in genotype and allele frequencies of rs3817588（OR=0.929，95%CI=0.541 to 1.594， ?字2=0.72，P=0.79；OR=0.995，95%CI=0.759 to 1.304，?字2=0.00，P=0.97，respectively），nor statistical differences，in genotype and allele frequencies of rs780094（OR=1.427，95%CI=0.974 to 1.598， ?字2=2.74，P=0.10；OR=0.880，95%CI=0.700 to 1.107， ?字2=1.20，P=0.27，respectively） was found between the two groups. Conclusion：GCKR gene rs3817588 and rs780094 polymorphisms have no association with PCOS or its related metabolic factors in Han population in Chongqing.