目的 探讨Patatin样磷酯酶结构域蛋白3(PNPLA3)基因rs738409位点多态性与非酒精性脂肪肝易感性关系.方法 检索PubMed以及中文数据库(中国生物医学文献数据库、中国知网、万方数据库、维普数据库),收集有关PNPLA3基因rs738409位点多态性与脂肪肝易感性的病例对照研究,提取文献相关数据进行Meta分析,以病例组与对照组PNPLA3基因rs738409位点各种基因模型的OR直及其95％CI为效应指标,并根据研究人群种族进行亚组分析.结果 共28篇研究符合纳入标准,累计病例数6 216例,对照组8 218例.Meta分析显示,PNPLA3基因rs738409多态性与非酒精性脂肪肝易感性有关联[纯合子比较模型(GGvs.CC):OR=2.42,95％CI:1.83～3.21,P＜0.001;杂合子比较模型(CGvs.CC):OR=1.28,95％CI:1.15 ～ 1.43,P＜0.001;显性遗传模型(CG+ GGvs.CC):OR=1.31,95％CI:1.17～ 1.46,P＜0.001;隐性遗传模型(GGvs.CC+GC):OR=2.26,95％CI:1.76～ 2.90,P＜0.001];亚组分析显示,亚洲以及高加索人群PNPLA3基因rs738409位点多态性与非酒精性脂肪肝易感性有关联.敏感性分析显示Meta分析结果稳定.结论 PNPLA3基因I148M多态性与非酒精性脂肪肝易感性明显相关.%Objective To explore the association between patatin-like phospholipase domaincontaining protein 3 (PNPLA3) gene rs738409 polymorphism and the susceptibility of non-alcoholic fatty liver disease (NAFLD).Methods Data bases were comprehensively searched to retrace all the related studies on the association between PNPLA3 gene rs738409 polymorphism and susceptibility.Of NAFLD,the pooled OR with 95％ CI of the association between PNPLA3 gene rs738409 polymorphism and NAFLD susceptibility were performed using different genetic models.Subgroup analysis based on the source of population and sensitivity analysis was performed to detect the stability of results.Results 28 original studies with 6 216 patients and 8 218 controls were involved in the final combination of data.Findings from the meta-analyses showed that there were strong associations between PNPLA3 gene rs738409 polymorphism and the susceptibility of NAFLD,under different genetic model comparisons [GG vs.CC:OR=2.42,95％CI:1.83-3.21,P＜0.001 ;CG vs.CC:OR=1.28,95％CI:1.15-1.43,P＜0.001 ; CG+GG vs.CC:OR=1.31,95％CI:1.17-1.46,P＜ 0.001 ; GG vs.CC + GC:OR=2.26,95％CI:1.76-2.90,P＜0.001].Similar results were found in both Asian and Caucasian populations.Conclusion Results from the Meta-analysis strongly suggested that there appeared significant association between PNPLA3 gene rs738409 polymorphism and the susceptibility of NAFLD.
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