迈向帕金森病遗传学的全球视野。
Towards a Global View of Parkinson's Disease Genetics.
机构信息
Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Pontificia Universidad Javeriana, San Ignacio Hospital, Neurology Unit, Bogotá, Colombia.
出版信息
Ann Neurol. 2024 May;95(5):831-842. doi: 10.1002/ana.26905. Epub 2024 Apr 1.
Abstract
Parkinson's disease (PD) is a global health challenge, yet historically studies of PD have taken place predominantly in European populations. Recent genetics research conducted in non-European populations has revealed novel population-specific genetic loci linked to PD risk, highlighting the importance of studying PD globally. These insights have broadened our understanding of PD etiology, which is crucial for developing disease-modifying interventions. This review comprehensively explores the global genetic landscape of PD, emphasizing the scientific rationale for studying underrepresented populations. It underscores challenges, such as genotype-phenotype heterogeneity and inclusion difficulties for non-European participants, emphasizing the ongoing need for diverse and inclusive research in PD. ANN NEUROL 2024;95:831-842.
摘要
帕金森病（PD）是一个全球性的健康挑战，但历史上 PD 的研究主要集中在欧洲人群中。最近在非欧洲人群中进行的遗传学研究揭示了与 PD 风险相关的新的特定人群遗传位点，强调了在全球范围内研究 PD 的重要性。这些新的认识拓宽了我们对 PD 病因的理解，这对于开发疾病修饰干预措施至关重要。本综述全面探讨了 PD 的全球遗传格局，强调了研究代表性不足人群的科学依据。它强调了诸如基因型-表型异质性和非欧洲参与者纳入困难等挑战，强调了 PD 研究中持续需要多样性和包容性。ANN NEUROL 2024；95：831-842.
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The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.非欧洲裔人群中单基因帕金森病的研究现状：综述。
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