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LRRK2 G2019S 在北非人群中的研究:综述。

LRRK2 G2019S in the North African population: a review.

机构信息

Department of Neurology, New Cross Hospital, Wolverhampton, UK.

出版信息

Eur Neurol. 2010;63(6):321-5. doi: 10.1159/000279653. Epub 2010 Apr 23.

DOI:10.1159/000279653
PMID:20413974
Abstract

Parkinson's disease (PD) is a common neurodegenerative disorder, for which environmental and/or genetic factors are postulated as possible causes. Over the past decade there has been a substantial increase in the knowledge of the genetics of PD. Mutations in Leucine-rich repeat kinase 2 (LRRK2) are the most frequent genetic causes of PD, and the common G2019S mutation has been identified in various ethnic groups with variable frequency. The aim of this article is to review the literature relating to LRRK2 G2019S in the North African population, which is composed of two main ethnic groups - the Berbers and the Arabs. The frequency of LRRK2 G2019S is 30-41% in familial PD and 30-39% in apparently sporadic PD in North Africa. Within healthy controls, Moroccan Berbers appear to have the highest carrier frequency at 3.3%. The majority of the available studies do not draw a clear distinction between the two ethnic groups, despite the distinct possibility that their ancestral origins are different. Further research looking at the respective prevalences of LRRK2 G2019S in Berbers and Arabs, and in different Arab populations, seems justified.

摘要

帕金森病(PD)是一种常见的神经退行性疾病,其病因被认为是环境和/或遗传因素。在过去的十年中,人们对 PD 的遗传学有了更深入的了解。富含亮氨酸重复激酶 2(LRRK2)的突变是 PD 最常见的遗传原因,常见的 G2019S 突变已在不同种族中被发现,其频率不同。本文旨在综述北非人群 LRRK2 G2019S 的相关文献,北非人群主要由两个主要族群组成——柏柏尔人和阿拉伯人。在北非,家族性 PD 中 LRRK2 G2019S 的频率为 30-41%,明显散发性 PD 中为 30-39%。在健康对照组中,摩洛哥柏柏尔人的携带率最高,为 3.3%。大多数现有研究并未明确区分这两个族群,尽管他们的祖先起源可能不同。进一步研究柏柏尔人和阿拉伯人以及不同阿拉伯人群中 LRRK2 G2019S 的各自患病率似乎是合理的。

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