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绘制帕金森病遗传学的多元包容未来及其广泛影响图谱。

Mapping the Diverse and Inclusive Future of Parkinson's Disease Genetics and Its Widespread Impact.

机构信息

Faculty of Pharmacy, University of Gezira, Wad Medani P.O. Box 20, Sudan.

International Parkinson Disease Genomics Consortium (IPDGC)-Africa, University of Gezira, Wad Medani P.O. Box 20, Sudan.

出版信息

Genes (Basel). 2021 Oct 23;12(11):1681. doi: 10.3390/genes12111681.

Abstract

Over the last decades, genetics has been the engine that has pushed us along on our voyage to understand the etiology of Parkinson's disease (PD). Although a large number of risk loci and causative mutations for PD have been identified, it is clear that much more needs to be done to solve the missing heritability mystery. Despite remarkable efforts, as a field, we have failed in terms of diversity and inclusivity. The vast majority of genetic studies in PD have focused on individuals of European ancestry, leading to a gap of knowledge on the existing genetic differences across populations and PD as a whole. As we move forward, shedding light on the genetic architecture contributing to PD in non-European populations is essential, and will provide novel insight into the generalized genetic map of the disease. In this review, we discuss how better representation of understudied ancestral groups in PD genetics research requires addressing and resolving all the challenges that hinder the inclusion of these populations. We further provide an overview of PD genetics in the clinics, covering the current challenges and limitations of genetic testing and counseling. Finally, we describe the impact of worldwide collaborative initiatives in the field, shaping the future of the new era of PD genetics as we advance in our understanding of the genetic architecture of PD.

摘要

在过去的几十年里,遗传学一直是推动我们理解帕金森病 (PD) 病因的引擎。尽管已经确定了大量 PD 的风险基因座和致病突变,但显然还有更多的工作需要完成,以解决遗传缺失之谜。尽管付出了巨大的努力,但作为一个领域,我们在多样性和包容性方面失败了。PD 的绝大多数遗传研究都集中在欧洲血统的个体上,导致对不同人群和 PD 整体的现有遗传差异的了解存在差距。随着我们的前进,揭示非欧洲人群中导致 PD 的遗传结构至关重要,这将为疾病的广义遗传图谱提供新的见解。在这篇综述中,我们讨论了如何更好地代表 PD 遗传学研究中研究不足的祖先群体,需要解决和解决阻碍这些人群纳入的所有挑战。我们进一步概述了 PD 遗传学在临床中的应用,涵盖了遗传测试和咨询的当前挑战和局限性。最后,我们描述了该领域全球合作计划的影响,这些计划塑造了 PD 遗传学新时代的未来,因为我们对 PD 遗传结构的理解不断深入。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b402/8624537/bcbf37e058ce/genes-12-01681-g001.jpg

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