Current opinion in neurology · 2025
Recent advances in the genetics of Parkinson's disease in underrepresented populations.
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Marconi Gabriel Alves, Teixeira-Dos-Santos Daniel, Schuh Artur Francisco Schumacher
Аннотация
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.
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.