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

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 -TT/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 ol-der 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.