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

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（singlenucleotidepolymorphisms，SNPs）与多囊卵巢综合征（polycysticovarysyndrome，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=I．123，P=0．57，95％C1=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。

Objective ：To investigate the association of Fetuin-A gene rs2248690 single nucleotide polymorphisms （SNPs） with polycystic 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%C1=0.925 to 21.224; OR=l. 123, P=0.57,95%CI=0.751 to 1.679; respec tively）. 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 TY 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.