https://scholars.lib.ntu.edu.tw/handle/123456789/520049
標題: | COQ2 p.V393A variant, rs148156462, is not associated with Parkinson's disease in a Taiwanese population | 作者: | CHIN-HSIEN LIN Lin H.-I. Chen M.-L. RUEY-MEEI WU |
公開日期: | 2015 | 出版社: | Elsevier Inc. | 卷: | 36 | 期: | 1 | 起(迄)頁: | 546.e17-8 | 來源出版物: | Neurobiology of Aging | 摘要: | A recent collaborative study that combined linkage analysis with whole-genome sequencing of family members of multiplex families with multiple system atrophy (MSA) has identified COQ2 gene as a causative gene for MSA. The common variant, c.T1178C (p.V393A, rs148156462), in the COQ2 gene was found to be associated with an increased risk of sporadic MSA. There is overlapping clinical characteristics between MSA and Parkinson's disease (PD), and the pathologic hallmark of both diseases is α-synucleinopathy. We therefore aim to analyze the COQ2 p.V393A variant in a large Taiwanese cohort with PD patients. We genotyped COQ2 p.V393A variant in a total of 1005 participants, comprising 500patients with PD and 505 age/gender-matched control subjects. The frequency of TC/CC genotype was comparable between PD patients and control subjects (odds ratio: 0.81, 95% confidence interval: 0.42-1.56, p = 0.53). COQ2 p.V393A variant is not a genetic risk factor for PD, suggesting its specificity in disease susceptibility to MSA. ? 2015 Elsevier Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84943408740&doi=10.1016%2fj.neurobiolaging.2014.08.006&partnerID=40&md5=b03d50737f3acbb5a0a65f14dcffbc43 https://scholars.lib.ntu.edu.tw/handle/123456789/520049 |
ISSN: | 0197-4580 | DOI: | 10.1016/j.neurobiolaging.2014.08.006 | SDG/關鍵字: | adult; aged; Article; cohort analysis; controlled study; COQ2 gene; female; gene; gene frequency; genetic association; genetic risk; genetic variability; genotype; human; major clinical study; male; Parkinson disease; risk assessment; Taiwanese; Asian continental ancestry group; genetic linkage; genetic predisposition; genetics; genotyping technique; middle aged; Parkinson disease; Shy Drager syndrome; Taiwan; 4-hydroxybenzoate polyprenyltransferase; transferase; Aged; Alkyl and Aryl Transferases; Asian Continental Ancestry Group; Cohort Studies; Female; Genetic Linkage; Genetic Predisposition to Disease; Genetic Variation; Genotyping Techniques; Humans; Male; Middle Aged; Multiple System Atrophy; Parkinson Disease; Taiwan |
顯示於: | 醫學系 |
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