重庆地区汉族人群TRB3基因+251AG多态性与多囊卵巢综合征的相关性研究.docVIP

重庆地区汉族人群TRB3基因+251A/G多态性与多囊卵巢综合征的相关性研究 田 波，李启富，龚莉琳，宋 颖，钟 立，杨淑敏，赵长虹，黄佳祎，程庆丰，梅 枚，夏 伟，罗 梅 （400016 重庆，重庆医科大学附属第一医院内分泌科） [摘要] 目的 了解中国重庆地区汉族人群TRB3基因外显子+251A/G的基因型分布，探讨该基因多态性与多囊卵巢综合征（PCOS）及其糖脂代谢、胰岛素抵抗等的相关性。方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对139例PCOS患者和120例正常对照者TRB3基因第2外显子+251A/G位点进行基因分型，同时进行人体测量学及代谢指标的检测，并对其中的107例PCOS患者和20例正常对照行高胰岛素-正葡萄糖钳夹实验。结果 TRB3基因+251A/G多态性位点的3种基因型AA、AG、GG频率在PCOS组中分别为62.59%、33.09%、4.32%，与对照组(60.83%、36.67%、2.5%)相比，差异无统计学意义(χ2=0.88，P=0.64)。PCOS组和对照组等位基因频率分布差异亦无统计学意义(P=0.99)。PCOS组AG/GG基因型的LDL-c和HDL-c水平明显低于AA基因型(P=0.028，P=0.036)。结论 TRB3基因+251A/G多态性与重庆地区汉族人群多囊卵巢综合征的发生无关，但可能与PCOS患者血脂代谢紊乱有关。 [关键词] 多态性，单核苷酸；TRB3基因；多囊卵巢综合征 [中图法分类号] [文献标志码] A [基金项目] 国家自然科学基金 [通信作者] 李启富，E-mail： HYPERLINK mailto:liqifu@ liqifu@ Association Correlation of TRB3 gene +251A/G polymorphism with polycystic ovarian syndrome: a report of 139 cases in Chongqing Han population Tian Bo, Li Qifu, Gong Lilin, Song Ying, Zhong Li, Yang Shumin, Zhao Changhong, Huang Jiayi, Cheng Qingfeng, Mei mMei, Xia wWei, Luo mMei (Department of Endocrinology, First Affiliated Hospital, Chongqing Medical University, Chongqing, 400016, China) stract] Objective To investigatestudy the genotype distribution of TRB3 exon+251A/G polymorphism in Han population from Chongqing area, and to explorediscuss its correlationassociation with polycystic ovarian syndrome (PCOS), glycolipids metabolism and insulin resistance. Methods A Ttotal of 139 PCOS patients and 120 matched normal control subjects were genotyped by PCR-restriction fragment length polymorphism (PCR-RFLP). Waist circumference, hip circumference, body mass index, plasma glucose, serum insulin, lipid profiles and total testosterone were measured. In a subgroup of this study, the hyperglycemic clamp technique was performed in 107 PCOS and 20 control subjects to evaluate insulin sensitivity. Results The frequencies of AA, AG and GG genotypes in PCOS group were 62.59%, 33.09% and 4.32% respectively，, and i