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<p>Parkinson’s disease (PD) is a complex neurodegenerative disorder with a substantial genetic component. Over the past decade, genome-wide association studies (GWAS) have identified numerous loci associated with PD risk; however, interpretation of these findings and their broader applicability remain challenging. In this systematic review, we synthesize results from 35 GWAS published between 2015 and 2025, encompassing diverse study designs and ancestries. Recurrent risk loci, including <i>SNCA</i>, <i>LRRK2</i>, <i>MAPT</i>, and <i>GBA1</i>, were consistently replicated across multiple studies, while several ancestry-specific associations were reported, particularly in East Asian and African ancestry cohorts. Nevertheless, representation of African, South Asian, and Latino populations remains limited, constraining the global generalizability of current findings. We also discuss methodological extensions beyond single-variant GWAS, including rare variant analyses, polygenic risk scores, and machine learning–based approaches, which have been applied to complement traditional analyses but remain primarily research tools due to limited validation and interpretability. Together, this review outlines the current genetic landscape of PD and identifies key methodological and population-based gaps that must be addressed to support robust and equitable translation of GWAS discoveries.</p>

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A decade of GWAS in Parkinson’s disease: ancestry-specific insights and methodological advances (2015–2025)

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月19日

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  • Mahinaz A. Mashhour,
  • Manal Abdel Wahed,
  • Mai S. Mabrouk

摘要

Parkinson’s disease (PD) is a complex neurodegenerative disorder with a substantial genetic component. Over the past decade, genome-wide association studies (GWAS) have identified numerous loci associated with PD risk; however, interpretation of these findings and their broader applicability remain challenging. In this systematic review, we synthesize results from 35 GWAS published between 2015 and 2025, encompassing diverse study designs and ancestries. Recurrent risk loci, including SNCA, LRRK2, MAPT, and GBA1, were consistently replicated across multiple studies, while several ancestry-specific associations were reported, particularly in East Asian and African ancestry cohorts. Nevertheless, representation of African, South Asian, and Latino populations remains limited, constraining the global generalizability of current findings. We also discuss methodological extensions beyond single-variant GWAS, including rare variant analyses, polygenic risk scores, and machine learning–based approaches, which have been applied to complement traditional analyses but remain primarily research tools due to limited validation and interpretability. Together, this review outlines the current genetic landscape of PD and identifies key methodological and population-based gaps that must be addressed to support robust and equitable translation of GWAS discoveries.