Department of Anatomy, School of Preclinical Medicine, Beijing University of Chinese Medicine, Beijing, China.
Am J Med Genet B Neuropsychiatr Genet. 2013 Apr;162B(3):235-44. doi: 10.1002/ajmg.b.32138. Epub 2013 Feb 21.
Parkinson's disease (PD) is one of the most common movement disorders. Parkin p.Val380Leu polymorphism (c.1239G > C) has been investigated as a potential genetic hallmark of PD, but studies examining the association between the polymorphism and PD have reported conflicting results. Therefore, we conducted a meta-analysis to assess the influence of Parkin p.Val380Leu polymorphism on the susceptibility of PD. Computer and hand searches of the literature were conducted using the MEDLINE, EMBASE, Cochrane Library, and China Academic Journals databases to identify studies addressing the association between the Parkin p.Val380Leu polymorphism and PD risk. We performed analyses of study characteristics, heterogeneity, and funnel plot asymmetry in analyses analogous to additive, dominant, recessive, homozygous, and heterozygous genetic models with the odds ratio (OR) as the measure of association. A total of 11 case-control studies involving 2,073 PD cases and 2,131 controls were included. When all 11 studies were pooled into the analysis, the presence of the Leu allele at the Parkin p.Val389Leu polymorphism was associated with decreased risk for PD in three genetic comparison models: OR in additive model: 0.79, 95% confidence interval (CI) = 0.64-0.98, P = 0.029; OR in recessive model: 0.55, 95% CI = 0.35-0.89, P = 0.014; OR in homozygous model: 0.51, 95% CI = 0.32-0.82, P = 0.005. Begg's funnel plot and Egger's test provided visual and statistical evidences for funnel plot symmetry, without evidence presence of publication bias. We conclude that the presence of the Leu allele at the Parkin p.Val380Leu polymorphism is associated decreased risk for PD.
帕金森病（PD）是最常见的运动障碍之一。Parkin p.Val380Leu 多态性（c.1239G > C）已被研究为 PD 的潜在遗传标志，但研究 Parkin p.Val380Leu 多态性与 PD 之间的关联的研究报告结果相互矛盾。因此，我们进行了荟萃分析以评估 Parkin p.Val380Leu 多态性对 PD 易感性的影响。使用 MEDLINE、EMBASE、Cochrane 图书馆和中国学术期刊数据库计算机和手动搜索文献，以确定研究 Parkin p.Val380Leu 多态性与 PD 风险之间关联的研究。我们在类似于加性、显性、隐性、纯合和杂合遗传模型的分析中对研究特征、异质性和漏斗图不对称性进行了分析，用比值比（OR）作为关联的度量。共纳入了 11 项病例对照研究，涉及 2073 例 PD 病例和 2131 例对照。当将所有 11 项研究汇总到分析中时，Parkin p.Val389Leu 多态性的 Leu 等位基因的存在与三种遗传比较模型中的 PD 风险降低相关：在加性模型中的 OR：0.79，95％置信区间（CI）= 0.64-0.98，P = 0.029；在隐性模型中的 OR：0.55，95％CI = 0.35-0.89，P = 0.014；在纯合模型中的 OR：0.51，95％CI = 0.32-0.82，P = 0.005。Begg 漏斗图和 Egger 检验为漏斗图对称性提供了视觉和统计学证据，没有证据表明存在发表偏倚。我们的结论是，Parkin p.Val380Leu 多态性的 Leu 等位基因的存在与 PD 风险降低相关。
