Recent advances in the genetics of Parkinson's disease in underrepresented populations.

IF 4.1 2区医学 Q1 CLINICAL NEUROLOGY

Current Opinion in Neurology Pub Date : 2025-06-06 DOI:10.1097/WCO.0000000000001391

Gabriel Alves Marconi, Daniel Teixeira-Dos-Santos, Artur Francisco Schumacher Schuh

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引用次数: 0

Abstract

Purpose of review: The aim of this study is to highlight recent key developments in Parkinson's disease genetics research in underrepresented populations, point out gaps related to ethnic and geographical diversity, and suggest future directions for increasing representation in genetics.

Recent findings: Genome-wide association studies (GWAS) involving non-European ancestries have identified population-specific risk variants, even with relatively small sample sizes compared to European GWAS. Polygenic risk scores derived from European cohorts often fail to generalize to non-European populations. Additionally, the prevalence of variants in Parkinson's disease genes, such as LRRK2 and GBA1, varies across populations. Monogenic studies in regions like African and Latin America face significant challenges, including limited research infrastructure and underrepresentation in genetic studies, hindering a comprehensive understanding of Parkinson's disease's genetic diversity.

Summary: Expanding Parkinson's disease genetics research to include diverse populations is essential to enhance disease understanding, uncover novel therapeutic targets, and ensure equitable access to precision medicine. Addressing participation barriers in underrepresented regions and investing in infrastructure development is essential for future progress.

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在代表性不足的人群中帕金森病遗传学的最新进展。

综述目的：本研究的目的是强调在代表性不足的人群中帕金森病遗传学研究的最新关键进展，指出与种族和地理多样性相关的差距，并建议未来增加遗传学代表性的方向。最近的发现：涉及非欧洲血统的全基因组关联研究（GWAS）已经确定了人群特异性风险变异，即使与欧洲GWAS相比样本量相对较小。来自欧洲人群的多基因风险评分往往不能推广到非欧洲人群。此外，帕金森病基因变异的流行程度，如LRRK2和GBA1，在不同人群中有所不同。非洲和拉丁美洲等地区的单基因研究面临重大挑战，包括研究基础设施有限和基因研究代表性不足，阻碍了对帕金森病遗传多样性的全面了解。总结：扩大帕金森氏病遗传学研究以涵盖不同人群，对于加强对疾病的理解、发现新的治疗靶点和确保公平获得精准医疗至关重要。解决代表性不足地区的参与障碍和投资基础设施发展对未来的进展至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Opinion in Neurology 医学-临床神经学

CiteScore

8.60

自引率

0.00%

发文量

174

审稿时长

6-12 weeks

期刊介绍： Current Opinion in Neurology is a highly regarded journal offering insightful editorials and on-the-mark invited reviews; covering key subjects such as cerebrovascular disease, developmental disorders, neuroimaging and demyelinating diseases. Published bimonthly, each issue of Current Opinion in Neurology introduces world renowned guest editors and internationally recognized academics within the neurology field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.