TLR4启动子遗传变异及环境交互与46XX早发性卵巢功能不全的关系  

Correlations between the susceptibility of premature ovarian insufficiency and TLR4 promoter SNPs or environmental factors

作　　者：张碧云 孟钊[2] 李秀媚[3] 苗竹林 冯苗 李蕾蕾 韩立薇 

机构地区：[1]广东省计划生育科学技术研究所(广东省计划生育专科医院),广东广州510600 [2]广东省妇幼保健院妇科,广东广州510010 [3]怀集县妇幼保健院妇科,广东肇庆526400

出　　处：《广东医学》2018年第2期207-211,共5页Guangdong Medical Journal

基　　金：广州市科技计划项目(编号:201510010253;1563000217)

摘　　要：目的探讨TLR4启动子区二个位点TLR4启动子rs1927914和rs10759932遗传变异与46XX早发性卵巢功能不全(POI)的关系,以及TLR4-1927914的C→T多态性变异及环境因素交互与46XX POI易感性的关系。方法将200例对照组与168例POI患者外周血DNA进行TLR4-rs1927914及TLR4-rs10759932二个位点的基因分型,分成-TT/CT/CC 3种,比较不同基因型在POI组及对照组发病率的差异;同时进行环境致病因素的多中心问卷调查,建立logistic多元回归模型,计算以上基因变异及环境因素交互与POI发病的易感性关系。结果 TLR4-rs1927914 C→T变异与POI易感性相关,TT基因型为POI的易感基因型,且该位点变异与年龄≥35岁之间存在着基因-环境交互作用。结论 TLR4-rs1927914 CC基因型与POI发病易感性相关,而TLR4-rs1927914 CT基因型为POI保护性基因型;且该位点变异与年龄≥35岁之间存在着基因-环境交互作用,POI是一种基因-环境多因素交互的复杂性疾病。Objective To investigate the correlations between the susceptibility of premature ovarian insufficiency （POI） and TLR4 promoter SNPs or environmental factors. Methods TLR4 promoter genotypes of rs1927914 and rs10759932 in 200 healthy controls and 168 cases of POI peripheral blood DNA were detected. Distributions of - TF/CT/ CC genotypes and the frequencies were compared between POI cases and healthy controls. Furthermore, correlations of TLR4- rs1927914 SNP and environmental factors were analyzed between cases and controls. Results TLR4 - rs1927914 TT was a risk genotype of POI. - CT genotype was a protective factor of URSA. TLR4 - rs1927914 TT and older than 35 years synergistically interacted for the risk of POI in Chinese women. Conclusion POI is a complex disease and maybe due to interactions of genes and environmental risk factors.

关 键 词：早发性卵巢功能不全 易感性 基因-环境交互 TLR4 启动子 

分 类 号：R711.75[医药卫生—妇产科学]