Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia
Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia
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DOI：
10.1016/j.parkreldis.2006.12.001
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发表时间：
2007-01-01
影响因子：
4.1
通讯作者：
Wu, Ruey-Meei
中科院分区：
文献类型：
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作者：
Farrer, Matthew J.;Stone, Jeremy T.;Wu, Ruey-Meei
遗传关联研究的目标是确定复杂疾病特征中常见的（> 5%）风险因素。在此，我们描述了帕金森病的第一个可复制的“功能性”风险等位基因。富亮氨酸重复激酶2（Lrrk2）G2385R取代与中国台湾人的家族性帕金森综合征、晚发型和早发性帕金森病相关最重要的是，我们提供了血统认同的证据，并表明Lrrk2 G2385R携带者起源于大约4800年前的一个祖先，也就是中华文明的开始。此外，我们的研究结果表明，共同的遗传编码变异有助于帕金森病在人口特定的方式，这可能对未来的全基因组关联研究具有重要意义。(c)2006爱思唯尔有限公司保留所有权利。
The goal of genetic association studies is to identify common (> 5%) risk factors in complex disease traits. Herein we describe the first replicable 'functional' risk allele for Parkinson's disease. The leucine-rich repeat kinase 2 (Lrrk2) G2385R substitution is associated with familial parkinsonism, late-, and early-onset Parkinson's disease in ethnic Chinese Taiwanese. Crucially, we provide evidence of identity-by-descent and suggest that Lrrk2 G2385R carriers originate from one ancestor some 4800 years ago, at the start of Chinese civilization. Moreover, our findings demonstrate that common genetic coding variants contribute to Parkinson's disease in a population specific manner which may have important implications for future genome-wide association studies. (c) 2006 Elsevier Ltd. All rights reserved.