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DOI 10.1038/s41531-025-00967-4

Медицинская библиотека · NPJ Parkinson's disease · 2025

Insights into ancestral diversity in Parkinson's disease risk: a comparative assessment of polygenic risk scores.

Saffie-Awad Paula, Grant Spencer M, Makarious Mary B, Elsayed Inas, Sanyaolu Arinola O, Crea Peter Wild, Schumacher Schuh Artur F, Levine Kristin S, Vitale Dan, Koretsky Mathew J, Kim Jeffrey, Peixoto Leal Thiago, Periñán María Teresa, Dey Sumit, Noyce Alastair J, Reyes-Palomares Armando, Rodriguez-Losada Noela, Foo Jia Nee, Mohamed Wael, Heilbron Karl, Norcliffe-Kaufmann Lucy, 23andMe Research Team, Rizig Mie, Okubadejo Njideka, Nalls Mike A, Blauwendraat Cornelis, Singleton Andrew, Leonard Hampton, Global Parkinson’s Genetics Program (GP2), Mata Ignacio F, Bandres-Ciga Sara

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Аннотация

Risk prediction models play a crucial role in advancing healthcare by enabling early detection and supporting personalized medicine. Nonetheless, polygenic risk scores (PRS) for Parkinson's disease (PD) have not been extensively studied across diverse populations, contributing to health disparities. In this study, we constructed 105 PRS using individual-level data from seven ancestries and compared two different models. Model 1 was based on the cumulative effect of 90 known European PD risk variants, weighted by summary statistics from four independent ancestries (European, East Asian, Latino/Admixed American, and African/Admixed). Model 2 leveraged multi-ancestry summary statistics using a p-value thresholding approach to improve prediction across diverse populations. Our findings provide a comprehensive assessment of PRS performance across ancestries and highlight the limitations of a "one-size-fits-all" approach to genetic risk prediction. We observed variability in predictive performance between models, underscoring the need for larger sample sizes and ancestry-specific approaches to enhance accuracy. These results establish a foundation for future research aimed at improving generalizability in genetic risk prediction for PD.

Для цитирования: Saffie-Awad Paula, Grant Spencer M, Makarious Mary B, Elsayed Inas, Sanyaolu Arinola O, Crea Peter Wild, Schumacher Schuh Artur F, Levine Kristin S, Vitale Dan, Koretsky Mathew J, Kim Jeffrey, Peixoto Leal Thiago, Periñán María Teresa, Dey Sumit, Noyce Alastair J, Reyes-Palomares Armando, Rodriguez-Losada Noela, Foo Jia Nee, Mohamed Wael, Heilbron Karl, Norcliffe-Kaufmann Lucy, 23andMe Research Team, Rizig Mie, Okubadejo Njideka, Nalls Mike A, Blauwendraat Cornelis, Singleton Andrew, Leonard Hampton, Global Parkinson’s Genetics Program (GP2), Mata Ignacio F, Bandres-Ciga Sara. Insights into ancestral diversity in Parkinson's disease risk: a comparative assessment of polygenic risk scores.. NPJ Parkinson's disease. 2025. DOI: 10.1038/s41531-025-00967-4.
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