瘦素受体基因Gln223Arg多态性与非酒精性脂肪性肝病的关系

目的 探讨瘦素受体基因多态性与非酒精性脂肪肝患者临床表型间的关系.方法 以非酒精性脂肪肝患者和正常对照人群为研究对象,应用聚合酶链反应及限制性片段长度多态性方法(PCR-RFLP),对167例中国人(包括85例非酒精性脂肪肝患者和82例正常对照)的瘦素受体基因Gln223Arg进行研究,同时进行临床参数的检测.结果 (1)非酒精性脂肪肝患者和正常对照组人群中Gln223Arg基因型频率和等位基因频率差异无显著性(P>0.05).(2)非酒精性脂肪肝男性患者中AA AG基因型者TC、BMI高于GG基因型(P<0.05).(3)进一步用Logistic回归分析发现:在非酒精性脂肪肝男性患者中该基因变异与TC相关(P=0.019).结论 非酒精性脂肪肝男性患者瘦素受体基因Gln223Arg多态性与TC水平相关.瘦素受体基因Gln223Arg可能参与非酒精性脂肪肝的脂质代谢.

Evaluation of leptin receptor Gln223Arg polymorphism in patients with non - alcoholic fatty liver disease

Objective To evaluate the genotype distribution of leptin receptor Gln223Arg gene in Chinese population and to verify its association with clinical parameters in patients with NAFLD and normal controls.Methods 85 patients with NAFLD and 82 normal controls were screened for presence of the polymorphism by PCR-RELP assay,and body mass index(BMI),triglyceride(TG),total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterolinsulin(LDL-C),fasting plasma insulin and glucose were measured and HOMA-IR were determined.Results (1)In the NAFLD group and normal persons,no differences were found in the genotype and allele frequencies of Gln223Arg.(2)NAFLD male patients with AA AG genotypes showed higher BMI and TC than those with GG genotypes(P<0.05).(3)Furthermore,logistic regression analysis indicated that TC in NAFLD male group were associated with genetic polymorphis of leptin receptor gene(P=0.019).Conclusion The Gln223Arg polymorphism in leptin receptor gene in associated with TC in male patients with non-alcoholic fatty liver disease.Leptin receptor Gln223Arg polymorphism may be involved in the cholesterol metabolism in non-alcoholic fatty liver diseases.