阿夫拉比亚人帕金森病的遗传结构:现状与未来展望

IF 2.5 4区 医学 Q3 NEUROSCIENCES Journal of integrative neuroscience Pub Date : 2024-08-19 DOI:10.31083/j.jin2308152
Wael Mohamed, Mohamed Abdelhalim Eltantawi, Vidhu Agarwal, Sara Bandres-Ciga, Mary B Makarious, Yasser Mecheri, Yared Zenebe Zewde, Walaa A Kamel, Bashayer Al-Mubarak, Karem H Alzoubi, Najib Kissani, Badrah S Alghamdi, Samia Ben Sassi
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引用次数: 0

摘要

帕金森病(PD)领域 80% 以上的基因研究都是针对欧洲后裔进行的。社会和科学界迫切需要了解全球人群帕金森病的遗传基础,以便进行治疗开发和部署。帕金森病的病因受遗传和环境因素的影响,这些因素因血统和地区而异,因此需要在全球范围内开展计划,收集大量患者,以确定与疾病相关的新型候选基因和风险位点。在由阿拉伯联盟(Arab League)和非洲联盟(African Union)成员国组成的阿非拉(AfrAbia)地区,只有极少数有记录的遗传评估对患有帕金森病的家庭进行了调查,而队列研究和病例对照研究的报道也非常有限。这篇综述文章总结了之前在非洲比亚进行的有关帕金森病遗传学的研究,强调了存在的差距和面临的挑战。我们讨论了历史相互作用背景下的病因风险谱,强调了等位基因频率、渗透性以及已知遗传变异在非洲裔帕金森病患者群体中的临床表现。
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The Genetic Architecture of Parkinson's Disease in the AfrAbia Population: Current State and Future Perspectives.

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.

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来源期刊
CiteScore
2.80
自引率
5.60%
发文量
173
审稿时长
2 months
期刊介绍: JIN is an international peer-reviewed, open access journal. JIN publishes leading-edge research at the interface of theoretical and experimental neuroscience, focusing across hierarchical levels of brain organization to better understand how diverse functions are integrated. We encourage submissions from scientists of all specialties that relate to brain functioning.
期刊最新文献
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