Is the G2019S LRRK2 mutation common in all southern European populations?
Is the G2019S LRRK2 mutation common in all southern European populations?
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DOI：
10.1016/j.jocn.2007.08.013
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发表时间：
2008-09-01
影响因子：
2
通讯作者：
Chroni, Elizabeth
中科院分区：
文献类型：
--
作者：
Papapetropoulos, Spiridon;Adi, Nikhil;Chroni, Elizabeth
富含亮氨酸重复激酶2（LRRK 2）基因突变，特别是G2019 S突变，已被确定为南欧和其他地中海人群（伊比利亚人，阿什肯纳兹犹太人和北非阿拉伯人）帕金森病的常见原因。由于希腊的地理和历史邻近地区LRRK 2突变的高患病率，我们研究了G2019 S突变的频率在一个充分表征的队列的家族性和散发性帕金森病患者的希腊起源从希腊大陆。还确定了LRRK 2 R1441 C突变和G2385 R亚洲多态性的患病率。我们没有发现有任何研究的突变/多态性的患者。据报道，在其他南欧人群中，LRRK 2 G2019 S突变的患病率非常低。LRRK 2突变在某些人群中似乎是有限的，不同的祖先和创始人效应可能解释了报告的变异性。准确估计不同LRRK 2突变的频率和频率对于正确和具有成本效益地使用遗传检测和帕金森病患者的适当遗传咨询至关重要。(C)2007爱思唯尔有限公司保留所有权利。
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene, especially the G2019S mutation, have been identified as a common cause of Parkinson's disease in southern European and other Mediterranean populations (Iberians, Ashkenazi Jews and North African Arabs). Owing to the geographic and historic vicinity of Greece with areas of high prevalence of LRRK2 mutations we studied the frequency of the G2019S mutation in a well characterized cohort of familial and sporadic Parkinson's disease patients of Greek origin from mainland Greece. The prevalence of the LRRK2 R1441C mutation and the G2385R Asian polymorphism was also determined. We identified no patients with any of the studied mutations/polymorphisms. Very low prevalence of the LRRK2 G2019S mutation has been reported in other southern European populations. LRRK2 mutations appear to be limited in certain populations and differing ancestry and founder effects may explain the reported variability. Accurate estimations of the frequency and penetrance of different LRRK2 mutations are essential for correct and cost-efficient use of genetic testing and proper genetic counseling of patients with Parkinson's disease. (C) 2007 Elsevier Ltd. All rights reserved.