中文摘要：

目的探讨青岛地区汉族人群瘦索受体（LEPR）基因K109R及其与脂肪滋养蛋白3基因（PNPLA3）1148M多态性的交互作用对非酒精性脂肪性肝病（NAFLD）发病风险的影响。方法收集296例NAFLD患者及321例健康对照人群的血液标本，采用PCR及基因型检测的方法对其进行基因分型，运用相关统计学方法对两组人群的基因型、等位基因以及临床资料进行比较。使用广义多因子降微法研究LEPRK109R与PNPLA31148M之间基因的交互作用。结果LEPRK109R基因型及等位基因分布在NAFLD组和正常对照人群之间无明显差异（P〉0．05）。PNPLA31148M基因多态性与NAFLD发病密切相关，携带G突变基因的人群患NAFLD的风险是未携带者的2．07倍[比值比（OR）=2．07，95％可信区间（CI）：1．423～3．013，JP〈0．001]。LEPRK109R与PNPLA31148M联合作用使NAFLD的发病风险明显增加（OR：3．393，95％a：1．856～6．201，P〈0．001）。结论在青岛地区汉族人群中，LEPRK109R基因多态性与NAFLD的发病无明显的相关性，而与PNPLA31148M多态性的交互作用能显著增加NAFLD的发病风险。

英文摘要：

Objective To investigate the influence of leptin receptor （LEPR） gene K109R polymorphism on the risk of nonalcoholic fatty liver disease （NAFLD） and its interaction with PNPLA3 I148M polymorphism in the Han Chinese population in Qingdao, China. Methods Blood samples were collected from 296 NAFLD patients and 321 healthy controls, and the genotypes of these patients were determined by PCR and genotyping. Related statistical analyses were performed to compare genotypes, alleles, and clinical data between the two groups. Generalized multifactor dimensionality reduction （GMDR） was used to investigate the interaction between LEPR K109R and PNPLA3 I148M genes. Results The distribution of LEPR K109R genotypes and alleles showed no significant differences between the NAFLD group and the control group （P 〉 0.05）. PNPLA3 I148M gene polymorphisms were closely associated with the risk of NAFLD, and the risk of NAFLD in G mutant gene carriers was 2.07 times that in patients who did not carry this gene （OR = 2.07, 95% CI 1.423-3.013, P 〈 0.001）. The joint action of LEPR K109R and PNPLA3 I148M significantly increased the risk of NAFL （OR = 3.393, 95% CI 1.856-6.201,P 〈 0.001）. Conclusion In the Han Chinese population in Qingdao, LEPR K109R gene polymorphism is not associated with the risk of NAFLD, but its interaction with PNPLA3 1148M polymorphism can significantly increase the risk of NAFLD.