老年人非酒精性脂肪肝与载脂蛋白E基因多态性关系的研究

Relationship between nonalcoholic fatty liver in elderly patients and the apoE gene polymorphism

目的探讨老年人非酒精性脂肪肝(NAFL)与载脂蛋白E(apoE)基因多态性的关系。方法对浙江省台州市农村536例60岁以上老年人和182例健康对照者采用聚合酶链法检测载脂蛋白E基因多态性和等位基因特异性寡核苷酸探针双色法检测112位和158位密码子双突变点,应用颜色补偿档案及熔解曲线分析。ELISA法检测apoE、apoE4基因表达程度。结果NAFL组和肝脂肪浸润(FIL)组以杂合子E2／3为主,分布频率分别为E2／3>E3／4>E3／3>E2／4>E2／2和E2／3>E3／3>E3／4>E2／4;apoE基因表达水平显著上调(P<0．05)。结论老年人NAFL的发生有一定的基因和家族聚集性,E2／3型是遗传易感基因,并且apoE基因112位点和158位点密码子的搭配及纯或杂合子和脂肪肝的发生及其疾病程度密切相关。

Objective To study the relationship between nonalcoholic fatty liver（NAFL） and the apoE gene polymorphism in elderly patients, and the pathogenesis rules of genetics. Methods Five hundred and thirty-six patients aged 60 years and over and 182 normal people in rural area of Taizhou, Zhejiang were recruited. The apoE gene polymorphism was genotyped by PCR, melting curve analysis and color compensation were used to measure the genotyping of apoE point mutations 112 and 158. The expressions of apoE and apoE4 were measured by ELISA. Results The most common allele was E2/3 in NAFL and fatty infiltrationin the liver（FIL）group , the frequencies were E2/3 〉E3/4 〉E3/3 〉E2/4 〉E2/2 and E2/3 〉E3/3〉E3/ 4〉E2/4. The expression of apoE was up-regulated （P〈0.05）. Conclusions There is familial aggregation in elderly patients with NAFL, E2/3 is a susceptible gene. ApoE point mutations 112,158 are highly related to the degrees of the NAFL disease.