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非裔非洲人群帕金森病的遗传结构:现状与未来展望。

The Genetic Architecture of Parkinson's Disease in the AfrAbia Population: Current State and Future Perspectives.

机构信息

Basic Medical Science Department, Kulliyyah of Medicine, International Islamic University Malaysia, 25200 Kuantan, Pahang, Malaysia.

Clinical Pharmacology Department, Menoufia Medical School, Menoufia University, 3211 Menoufia, Egypt.

出版信息

J Integr Neurosci. 2024 Aug 19;23(8):152. doi: 10.31083/j.jin2308152.

Abstract

Over 80% of genetic studies in the Parkinson's disease (PD) field have been conducted on individuals of European descent. There is a social and scientific imperative to understand the genetic basis of PD across global populations for therapeutic development and deployment. PD etiology is impacted by genetic and environmental factors that are variable by ancestry and region, emphasising the need for worldwide programs to gather large numbers of patients to identify novel candidate genes and risk loci involved in disease. Only a handful of documented genetic assessments have investigated families with PD in AfrAbia, which comprises the member nations of the Arab League and the African Union, with very limited cohort and case-control studies reported. This review article summarises prior research on PD genetics in AfrAbia, highlighting gaps and challenges. We discuss the etiological risk spectrum in the context of historical interactions, highlighting allele frequencies, penetrance, and the clinical manifestations of known genetic variants in the AfrAbian PD patient community.

摘要

超过 80%的帕金森病 (PD) 领域的遗传研究都是针对欧洲血统的个体进行的。为了在全球范围内开展治疗药物研发和应用,我们迫切需要了解 PD 的遗传基础。PD 的病因受到遗传和环境因素的影响,这些因素因祖先和地区而异,这强调了需要在全球范围内开展计划,以汇集大量患者来确定涉及疾病的新的候选基因和风险基因座。在 AfrAbia(包括阿拉伯联盟和非洲联盟的成员国),仅有少数记录在案的遗传评估调查了 PD 患者的家族,并且报告的队列和病例对照研究非常有限。本文综述了 AfrAbia 的 PD 遗传学研究,重点介绍了空白和挑战。我们在历史互动的背景下讨论了病因风险谱,强调了已知遗传变异在 AfrAbian PD 患者群体中的等位基因频率、外显率和临床表现。

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