磷脂酰乙醇胺N-甲基转移酶基因G175A多态性与非酒精性脂肪肝的关系  

Association of phosphatidylethanolamine N-methyltransferase gene G175A single nucleotide polymorphism with nonalcoholic fatty liver disease

作　　者：黄红丽[1] 李瑜元[1] 聂玉强[1] 周永健[1] 沙卫红[1] 杜艳蕾[1] 王红[1] 

机构地区：[1]广东省广州市第一人民医院消化内科,510180

出　　处：《广东医学》2008年第7期1092-1094,共3页Guangdong Medical Journal

摘　　要：目的研究磷脂酰乙醇胺N-甲基转移酶(PEMT)基因外显子8的G175A多态性与非酒精性脂肪肝(NAFLD)的关系。方法采用聚合酶链反应限制性片段长度多态法检测并比较51例NAFLD患者和50名健康对照者PEMT基因外显子8的G175A基因型、等位基因频率,分析不同基因型对各临床指标的影响。结果NAFLD组和正常对照组PEMT基因175位点的基因多态性分布差异有显著性(GG、GA、AA在两组中的比例分别是58.8%、78.0%和39.2%、22.0%和2.0%、0.0%,χ2=4.289,P=0.038),NAFLD组A等位基因频率高于对照组(21.6%比11.0%,χ2=4.127,P=0.042),NAFLD患者中G175A突变型的高密度脂蛋白水平低于野生型患者(2.88±1.02 vs 2.04±0.96,P<0.05),而低密度脂蛋白水平明显高于野生型(3.22±0.88 vs 3.87±0.35,P<0.01),Logistic回归分析显示基因位点pemtG175A突变型、低密度脂蛋白是脂肪肝形成的主要危险因素(P<0.05)。结论PEMT基因外显子8的G175A多态性与NAFLD发病易感性相关。Objective To investigate whether phosphatidylethanolamine N - methyltransferase （PEMT） gene G175A single nucleotide polymorphism confers the susceptibility to nonalcoholic fatty liver disease（ NAFLD）. Methods G175A polymorphism in exon 8 of PEMT genotype and allele were analyzed using polymerase chain reaction and restriction fragment length polymorphism（ PCR - RFLP） in 51 NAFLD patients and 50 controls, Results The G - A mutation of the PEMT gene G175A polymorphism was significantly higher in patients with NAFLD versus control（ the frequencies of GG, GA and AA genotypes were 58. 8% ,39. 2% and 2, 0% in NAFLD vs 78, 0% ,22, 0% and 0. 0% in controls,x^2 =4, 289, P =0. 038）,A allele of the PEMT gene was significantly more frequent in NAFLD patients than in controls （21. 6% vs 11, 0% ,x^2 =4. 127,P =0. 042） ,There were significant differences in HDL- C and LDL-C between GG,GA/AA genotype subject of NAFLD patients （P 〈 0. 05 ）, Conclusion People with GI75A polymorphism in exon 8 of PEMT gene were susceptible to NAFLD.

关 键 词：磷脂酰乙醇胺N-甲基转移酶 非酒精性脂肪肝 基因多态性 

分 类 号：R575.5[医药卫生—消化系统] R730.53[医药卫生—内科学]