雌激素受体基因多态性与绝经后女性非酒精性脂肪性肝病的相关性研究

Correlation between polymorphism of estrogen receptor gene and non-alcoholic fatty liver disease in postmenopausal women

110例无亲缘关系绝经后女性非酒精性脂肪性肝病（NAFLD）患者和100名年龄相匹配的健康绝经后女性对照人群，采用限制性片段长度多态性聚合酶链反应（PCR—RFLP）方法对雌激素受体（ER）α和β基因多态性进行检测，并采用SHEsis在线计算平台进行单体型分析。结果显示，2组间ERdXbaI和Pvu1I酶切位点的基凶型及等位基凶分布频率差异无统计学意义（P〉0．05）；而ERβRsaI和Alu I酶切位点的基因型及等位基因分布频率存在显著差异（P〈0．05或P〈0．01），携带R等位基因发生NAFLD的相对风险是r的1．833倍（95％ CI 1．209～2．779．P〈0．01），携带α等位基因发生NAFLD的相对风险是A的1．782倍（95％CI1．037。3．061．P〈0．05）。r—A单体型在NAFLD组分布频率显著低于对照组（OR=0．529，95％CI 0．348～0．805）。Logistic回归分析显示，空腹血糖、甘油三酯、体重指数、舒张斥和AluI基因型与NAFI。D发生密切相关（均P〈0．01），与AA基因型相比，Aa／aa基因型NAFLD相对风险增加1．345倍（95％ CI 1．028～2．505，P〈0．05）。

Genotypes of estrogen receptor gene （ER） α and β in 110 patients with non-alcoholic fatty liver disease （NAFLD） and 100 eontrol subjects were examined by polymerase chain reaction-based restriction fragment length polymorphism. The haplotype analysis was conducted by SHEsis on-line computing platform. The results showed that there were no differences in the genotype frequencies and allele frequencies of ERα at Xba I and Pvu Ⅱ enzyme cutting sites between two groups （ P〉 0.05 ）. There existed significant differences in the genotype frequencies and allele frequencies of ERβ at Rsa I and Alu I enzyme cutting sites between these two groups （ P 〈 0. 05 or P 〈 0. 01 ）. The risk of NAFLD in postmenopausal women with R or a allele was 1. 833 （95% CI 1. 209-2. 779, P〈0.05 ） or I. 782 （ 95 % CI 1. 037-3. 061 , P〈0.05 ） fold of that with allele r or A. The frequency of r-A haplotype in ERI3 was significantly lower in NAFLD group than that in control group （ OR = 0. 529,95% CI 0. 348-0. 805 ）. Logistic regression analysis showed the relationship of fasting blood glucose, triglyceride, body mass index, diastolic pressure, Alu I genotype with NAFLI） （ all P〈O. 01 ）. The risk of NAFLD in postmenopausal women with Aa/aa genotype was 1. 345 （ 95% CI 1. 028-2. 505, P〈0.05 ） folds of that with AA genotype.