重庆地区汉族人群Fetuin-A基因rs2248690多态性与多囊卵巢综合征易感性的研究

Association of polymorphism of Fetuin-A gene rs2248690 with polycystic ovary syndrome in Chongqing Han population

摘要:

目的：探讨中国重庆地区汉族人群Fetuin-A基因rs2248690单核苷酸多态性（single nucleotide polymorphisms，SNPs）与多囊卵巢综合征（polycystic ovary syndrome，PCOS）易感性及其内分泌代谢特征的关系。方法：应用Taqman探针荧光定量PCR法对147例PCOS患者和156例对照Fetuin-A基因rs2248690位点进行基因分型，同时进行人体学测量及代谢指标的检测，并对147例PCOS患者和20例对照行高胰岛素-正葡萄糖钳夹实验，用M值表示其胰岛素敏感性。结果：Fetuin-A基因rs2248690多态性位点基因型及等位基因分布频率在PCOS组和对照组间无统计学差异（OR=4.432，P=0.09，95%CI=0.925～21.224；OR=1.123，P=0.57，95%CI=0.751～1.679）。PCOS患者AA基因型空腹胰岛素水平、稳态模型的胰岛素抵抗指数显著高于AT+TT基因型，而M值水平明显低于AT+TT基因型，差异有统计学意义（P=0.00；P=0.00）。结论：Fetuin-A基因rs2248690多态性可能与重庆地区汉族人群PCOS无明显关联，而与PCOS患者胰岛素敏感性有关。

Abstract:

Objective：To investigate the association of Fetuin-A gene rs2248690 single nucleotide polymorphisms（SNPs） with poly－cystic ovary syndrome（PCOS） in Chongqing Han population. Methods：A total of 147 PCOS patients and 156 controls were genotyped by TaqMan SNP genotyping assay. Hyperinsulinemic-euglycemic clamp was performed on 147 PCOS women and 20 controls. M value was used to signify insulin sensitivity. Results：No significant difference in genotype and allele frequencies of rs2248690 was observed between PCOS patients and controls（OR=4.432，P=0.09，95%CI=0.925 to 21.224；OR=1.123，P=0.57，95%CI=0.751 to 1.679；respectively）. Patients with AA genotype had higher fasting serum insulin，homeostasis model assessment-insulin resistance and lower M value as compared with those of AT and TT genotypes in PCOS group（P=0.00，P=0.00）. Conclusions：Fetuin-A gene rs2248690 poly－morphism has no association with PCOS in Han population in Chongqing area，but it may associate with insulin resistance in PCOS.