摘要目的 探讨维吾尔族雌激素β受体(extrogen receptor beta gene,ERβ)基因多态性与妊娠期肝内胆汁淤积症(intrahepatic cholestasis of pregnancy,ICP)的相关性.方法 选择2008年4月至2011年4月在新疆医科大学第一附属医院分娩的维吾尔族ICP患者105例为观察组,105名同期维吾尔族正常孕妇作为对照组.应用限制性片段长度多态性方法分析rs1256049(RsaI)和rs4986938(Alu I)两个功能位点,观察两组孕妇ERβ基因型的分布.结果 Rsa I和Alu I的限制性片段长度多态性在两组中均呈多态性分布.ICP组R等位基因频率为35.71％,对照组为50.95％,OR值为0.535(95％可信区间为0.3619～0.7910,P＜0.01);ICP组A等位基因频率为21.43％,对照组为10.95％,OR值为2.2174(95％可信区间为1.2866～3.8215,P＜0.05).结论 维吾尔族孕妇ERβ基因多态性与ICP存在相关性,R等位基因可能是其保护因素,A等位基因则可能是风险因素.

abstracts[Objective]To assess the association between estrogen receptor beta gene (ERβ)polymorphisms and intrahepatic cholestasis of pregnancy (ICP) in Chinese Uygur patients.[Methods] A total of 105 ICP patients and 105 healthy controls were recruited from April 2008 to April 2011.Polymorphisms of ra1256049 (Rsa I) and rs4986938 (Alu I) in ERβ gene were analyzed with PCRrestriction fragment length polymorphism (RFLP) method.[Results] The frequencies of R allele were,respectively,35.71％ and 50.95％ in tCP patients and controls.Odds ratio (OR) was 0.535[95％confidence intervals (CI) =0.3619-0.7910,P＜0.01].Frequencies of A allele were,respectively,21.43％and 10.95％ in the patient and control groups.OR was 2.2174 (95％ CI＝ 1.2866-3.8215,P＜0.05).[Conclusion] ERβ gene polymorphisms are associated with ICP.R allele may confer a protective effect,whilst A allele may be a risk factor.