Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.
Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.
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DOI：
10.1002/mds.29126
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发表时间：
2022-08
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人类遗传学研究缺乏多样性；超过 80% 的全基因组关联研究是针对欧洲血统的个体进行的。除了限制对疾病机制的了解之外，不成比例的代表性还会造成差异，阻碍个性化医疗的公平实施。本系统综述概述了代表性不足人群 (URP) 中涉及帕金森病 (PD) 遗传学的研究，并设定了基线来衡量当前工作对这些人群的未来影响。我们使用搜索字符串“PD”、“遗传学”、主要“URP”以及拉丁美洲、加勒比海、非洲、亚洲和大洋洲（不包括澳大利亚和新西兰）的国家/地区对 PubMed 和 EMBASE 进行了搜索，直至 2021 年 10 月。纳入标准是用英文撰写的原创研究，报告非欧洲人群的帕金森病遗传结果。两级独立评审员识别并提取信息。我们观察到 URP 之间 PD 遗传学研究的不平衡。大多数发表的文章（57%）都描述了来自大中华区的亚洲参与者，但其他人群的研究较少；例如，黑人在出版物中的比例仅为 4.0%。此外，尽管特发性帕金森病比单基因形式的疾病得到更多研究，但大多数研究分析的遗传变异数量有限。截至 2021 年，我们仅确定了 9 项使用全基因组方法的研究，其中包括 URP。这篇综述深入了解了 PD 研究中人口多样性的严重缺乏，强调了迫切需要更好的代表性。全球帕金森氏症遗传学计划 (GP2) 和类似举措旨在影响 URP 的研究，这里提出的早期指标可用于衡量未来帕金森症遗传学领域的进展。 © 2022 作者。 《运动障碍》由 Wiley periodicals LLC 代表国际帕金森和运动障碍协会出版。
Human genetics research lacks diversity; over 80% of genome‐wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. We searched PubMed and EMBASE until October 2021 using search strings for “PD,” “genetics,” the main “URP,” and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non‐European populations. Two levels of independent reviewers identified and extracted information. We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome‐wide approach published up to 2021, including URPs. This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.