Multiple genes have been associated with monogenic Parkinson's disease and Parkinsonism syndromes. Mutations in PINK1 (PARK6) have been shown to result in autosomal recessive early-onset Parkinson's disease. In the past decade, several studies have suggested that carrying a single heterozygous PINK1 mutation is associated with increased risk for Parkinson's disease. Here, we comprehensively assess the role of PINK1 variants in Parkinson's disease susceptibility using several large data sets totalling 376,558 individuals including 13,708 cases with Parkinson's disease and 362,850 control subjects. After combining these data, we did not find evidence to support a role for heterozygous PINK1 mutations as a robust risk factor for Parkinson's disease.

中文翻译：

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帕金森病中 PINK1 变异的综合评估


多个基因与单基因帕金森病和帕金森综合征有关。 PINK1 (PARK6) 突变已被证明会导致常染色体隐性遗传的早发性帕金森病。在过去十年中，多项研究表明携带单一杂合 PINK1 突变与帕金森病风险增加相关。在这里，我们使用总计 376,558 名个体（包括 13,708 名帕金森病患者和 362,850 名对照受试者）的多个大型数据集全面评估了 PINK1 变异在帕金森病易感性中的作用。合并这些数据后，我们没有发现证据支持杂合 PINK1 突变作为帕金森病的强大危险因素。