LHCGR 基因、THADA 基因、DENND1A 基因单核苷酸多态性与新疆地区多囊卵巢综合征的关联性研究

摘要

目的：探讨 LHCGR 基因单核苷酸多态性（SNP）位点 rs13405728、THADA 基因 SNP 位点rs13429458和 DENND1A 基因 SNP 位点 rs2479106与新疆地区多囊卵巢综合征（PCOS）病的关系。方法选择在新疆医科大学第一附属医院生殖助孕中心就诊的 PCOS 患者（PCOS 组，n ＝33）及与 PCOS 组年龄、BMI 相匹配的门诊病人（对照组，n ＝19）。用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析对 LHCGR 基因、THADA 基因和 DENND1A 基因 SNP 多态性进行检测。测定所有研究对象基础状态下的腰臀比（WHR）、体质指数（BMI）、卵泡生成素（FSH）、黄体生成素（LH）、催乳素（PRL）、雄性激素（T）、雌二醇（E2）、胰岛素抵抗指数（HO-MA-IR）水平，进行口服糖耐量试验（OGTT）和胰岛素释放试验。结果 PCOS 组 THADA 基因 SNP 位点rs13429458的 TG＋GG 基因型口服糖耐量试验空腹胰岛素（OGTT-0INS）和胰岛素抵抗指数（HOMA-IR）高于TT 基因型，差异有统计学意义（P ＜0．05）。PCOS 组 LHCGR 基因 SNP 位点 rs13405728的 TC＋CC 基因型口服糖耐量试验30 min 血糖（OGTT-30BG）、OGTT-0INS、30 min 胰岛素（OGTT-30INS）及 HOMA-IR 均高于 TT 基因型，差异有统计学意义（P ＜0．05）。PCOS 组 DENND1A 基因 SNP 位点 rs2479106 TT 基因型和 TC＋CC 基因型临床代谢指标比较差异无统计学意义（P ＞0．05）。结论THADA 基因和 LHCGR 基因 SNP 位点与新疆地区PCOS 有相关性，可能是新疆地区 PCOS 的2个易感基因位点。%Objective To explore the association between single nucleotide polymorphisms of LHCGR gene on rs13405728 site,THADA gene rs13429458 site,DENND1A gene rs2479106 and the incidence of PCOS,respectively.Methods The polycystic ovarian syndrome (PCOS)patients in study goroup came from the reproductive assisted reproduction center of first affiliated hospital of Xinjiang medical university and the cases in normal control group were matched with the PCOS group by age and BMI.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)analysis was used to test SNP poly-morphism of LHCGR genes, THADA gene and DENND1A.In basal conditions, waist-to-hip ratio (WHR),body mass index (BMI),follicular hormone (FSH),luteinizing hormone (LH),Prolactin (PRL),the index of insulin resistance (HOMA IR),testosterone (T),Estradiol (E2 )levels and oral glu-cose tolerance test (OGTT)and insulin releasing test of patients and their contols were tested.Results In the PCOS group,fasting insulin (OGTT-0INS)and indexes of insulin resistance (HOMA-IR)of the pa-tients with TG+GG genotype of THADA gene SNP loci rs13429458 were higher than those with TT gen-otype,and there was statistically significant difference (P <0.05).In PCOS group,oral glucose 30 min (OGTT-30BG),OGTT-0INS,insulin 30 min (OGTT-30INS)and HOMA IR of the patients with TC+CC genotype of LHCGR gene SNP loci rs13405728 were higher than those in TT genotype,and there was statistically significant difference (P <0.05).There was no statistical difference (P >0.05)in clinical met-abolic indices between TT genotype and TC+CC genotype of DENND1A gene SNP loci rs2479106.Con-clusion The PCOS in Xinjiang region with LHCGR and THADA genes SNP loci have correlation,which may be two susceptibility loci of PCOS.