对Lrrk2基因R1628P位点作为帕金森病风险因素的分析。

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.

作者信息

Ross Owen A, Wu Yih-Ru, Lee Mei-Ching, Funayama Manabu, Chen Meng-Ling, Soto Alexandra I, Mata Ignacio F, Lee-Chen Guey-Jen, Chen Chiung Mei, Tang Michelle, Zhao Yi, Hattori Nobutaka, Farrer Matthew J, Tan Eng-King, Wu Ruey-Meei

机构信息

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA.

出版信息

Ann Neurol. 2008 Jul;64(1):88-92. doi: 10.1002/ana.21405.

DOI:10.1002/ana.21405

PMID:18412265

Abstract

Common genetic variants that increase the risk for Parkinson's disease may differentiate patient subgroups and influence future individualized therapeutic strategies. Herein we show evidence for leucine-rich repeat kinase 2 (LRRK2) c.4883G>C (R1628P) as a risk factor in ethnic Chinese populations. A study of 1,986 individuals from 3 independent centers in Taiwan and Singapore demonstrates that Lrrk2 R1628P increases risk for Parkinson's disease (odds ratio, 1.84; 95% confidence interval, 1.20-2.83; p = 0.006). Haplotype analysis suggests an ancestral founder for carriers approximately 2,500 years ago. These findings support the importance of LRRK2 variants in sporadic Parkinson's disease. Ann Neurol 2008.

摘要

增加帕金森病风险的常见基因变异可能区分患者亚组，并影响未来的个体化治疗策略。在此，我们展示了富含亮氨酸重复激酶2（LRRK2）基因c.4883G>C（R1628P）作为中国人群帕金森病风险因素的证据。一项对来自台湾和新加坡3个独立中心的1986名个体的研究表明，Lrrk2 R1628P增加帕金森病风险（优势比，1.84；95%置信区间，1.20 - 2.83；p = 0.006）。单倍型分析表明，大约2500年前携带者存在一个祖先奠基者。这些发现支持了LRRK2变异在散发性帕金森病中的重要性。《神经病学纪事》2008年。