机构：[a]Department of Neurobiology and Neurology, Beijing Institute of Geriatrics and Xuanwu Hospital of Capital University of Medical Sciences, Beijing 100053, China神经内科老年医学科首都医科大学宣武医院[b]Key Laboratory of Neurodegnerative Diseases for Ministry of Education, Beijing Institute of Geriatrics and Xuanwu Hospital of Capital University of Medical Sciences, Beijing 100053, China老年医学科首都医科大学宣武医院[c]Chinese National Human Genome Center, Beijing 100176, China
Parkinson's disease (PD) is a complex neurodegenerative disease with genetic risk factors. Common variants in genes implicated in hereditary forms of parkinsonism may be predisposing factors for sporadic PD. Recent studies have demonstrated that mutations in PINK1 (PARK6 locus) gene, encoding PTEN-induced kinase 1, are associated with both familial recessive and sporadic early onset parkinsonism. In order to assess whether the coding variant A340T contributes to the risk of late-onset PD, we performed an association study of 539 PD patients with an onset age at or older than 50 and 525 controls in Chinese Han. Genotyping was performed by denaturing high performance liquid chromatography (DHPLC) combined with sequencing analyses. The A-allele frequency was 6.2% in PD and 4.2% in controls (p = 0.0404), while G/A genotype frequencies were 12.4% in PD and 8.4% in the controls (p = 0.0350). Our results yielded significant evidence for disease association between PINK1 A340T and PD with later onset (OR 1.55, 95% CI 1.04-2.32, p = 0.0393), thus suggesting that PINK1 A340T variant may contribute to the risk for late-onset PD in Chinese. (c) 2006 Elsevier Ireland Ltd. All rights reserved.
基金：
Ministry of Sciences and Technology of China (2006CB500701; 2002BA711A07-04; 2002BA711A10), Chinese National Natural Science Foundation (30430280),
Beijing Municipal Commission on Sciences and Technology (H020220020610, 7031002), and Beijing Bureau of Health (2003-2029).
第一作者机构：[a]Department of Neurobiology and Neurology, Beijing Institute of Geriatrics and Xuanwu Hospital of Capital University of Medical Sciences, Beijing 100053, China[b]Key Laboratory of Neurodegnerative Diseases for Ministry of Education, Beijing Institute of Geriatrics and Xuanwu Hospital of Capital University of Medical Sciences, Beijing 100053, China[c]Chinese National Human Genome Center, Beijing 100176, China
通讯作者：
通讯机构：[*]Beijing Institute of Geriatrics, Xuanwu Hospital, #45 Changchun Street, Beijing 100053, China
推荐引用方式(GB/T 7714)：
Feng Wang,Xiuli Feng,Jinhong Ma,et al.A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese[J].NEUROSCIENCE LETTERS.2006,410(2):121-125.doi:10.1016/j.neulet.2006.09.080.
APA：
Feng Wang,Xiuli Feng,Jinhong Ma,Haiqiang Zou&Piu Chan.(2006).A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese.NEUROSCIENCE LETTERS,410,(2)
MLA：
Feng Wang,et al."A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese".NEUROSCIENCE LETTERS 410..2(2006):121-125
