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《帕金森病的黑人和非裔美国人关联研究(BLAAC PD)方案》。

The Black and African American Connections to Parkinson's Disease (BLAAC PD) study protocol.

机构信息

University of Pittsburgh, 3471 Fifth Avenue, Pittsburgh, PA, 15213, USA.

The Michael J. Fox Foundation for Parkinson's Research, New York, NY, USA.

出版信息

BMC Neurol. 2024 Oct 21;24(1):403. doi: 10.1186/s12883-024-03914-7.

DOI:10.1186/s12883-024-03914-7
PMID:39434044
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11492614/
Abstract

Determining the genetic contributions to Parkinson's disease (PD) across diverse ancestries is a high priority as this work can guide therapeutic development in a global setting. The genetics of PD spans the etiological risk spectrum, from rare, highly deleterious variants linked to monogenic forms with Mendelian patterns of inheritance, to common variation involved in sporadic disease. A major limitation in PD genomics research is lack of racial and ethnic diversity. Enrollment disparities have detrimental consequences on the generalizability of results and exacerbate existing inequities in care. The Black and African American Connections to Parkinson's Disease (BLAAC PD) study is part of the Global Parkinson's Genetics Program, supported by the Aligning Science Across Parkinson's initiative. The goal of the study is to investigate the genetic architecture underlying PD risk and progression in the Black and/or African American populations. This cross-sectional multicenter study in the United States has a recruitment target of up to 2,000 individuals with PD and up to 2,000 controls, all of Black and/or African American ancestry. The study design incorporates several strategies to reduce barriers to research participation. The multifaceted recruitment strategy aims to involve individuals with and without PD in various settings, emphasizing community outreach and engagement. The BLAAC PD study is an important first step toward informing understanding of the genetics of PD in a more diverse population.

摘要

确定不同种族背景下帕金森病(PD)的遗传贡献是当务之急,因为这项工作可以为全球范围内的治疗开发提供指导。PD 的遗传学涵盖了病因风险谱,从与孟德尔遗传模式相关的单基因形式的罕见、高度有害的变体,到涉及散发性疾病的常见变异。PD 基因组学研究的一个主要限制是缺乏种族和民族多样性。入组差异对结果的普遍性产生不利影响,并加剧了现有的护理不平等。“黑人和非裔美国人帕金森病关联研究(BLAAC PD)”是“帕金森病遗传学计划”的一部分,该计划得到了“跨帕金森病领域科学协调倡议”的支持。该研究的目标是调查 PD 风险和进展的遗传结构在黑人和/或非裔美国人人群中。这是一项在美国进行的横断面多中心研究,目标招募人数为 2000 名 PD 患者和 2000 名对照,所有参与者均为黑人和/或非裔美国人。该研究设计采用了多种策略来减少研究参与的障碍。多方面的招募策略旨在在各种环境中招募有和没有 PD 的个体,强调社区外展和参与。BLAAC PD 研究是朝着在更多样化的人群中更好地了解 PD 遗传学迈出的重要第一步。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d571/11492614/7c949aefc776/12883_2024_3914_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d571/11492614/c4da88477e72/12883_2024_3914_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d571/11492614/7c949aefc776/12883_2024_3914_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d571/11492614/c4da88477e72/12883_2024_3914_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d571/11492614/7c949aefc776/12883_2024_3914_Fig2_HTML.jpg

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Mov Disord. 2024 Nov;39(11):2039-2048. doi: 10.1002/mds.29902. Epub 2024 Sep 16.
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Towards a Global View of Parkinson's Disease Genetics.迈向帕金森病遗传学的全球视野。
Ann Neurol. 2024 May;95(5):831-842. doi: 10.1002/ana.26905. Epub 2024 Apr 1.
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Global, regional, and national burden of disorders affecting the nervous system, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
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Economic Burden of Parkinson's Disease: A Multinational, Real-World, Cost-of-Illness Study.帕金森病的经济负担:一项跨国、基于真实世界的疾病成本研究。
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