title: COQ2 p.V393A variant, rs148156462, is not associated with Parkinson's disease in a Taiwanese population.
abstract: 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 500 patients 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.
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Chin-Hsien
authors.initials: CH
authors.lastname: Lin
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
authors.forename: Hang-I
authors.initials: HI
authors.lastname: Lin
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Life Science, National Taiwan University, Taipei, Taiwan.
authors.forename: Meng-Ling
authors.initials: ML
authors.lastname: Chen
authors.affiliation: Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: robinwu@ntu.edu.tw.
authors.forename: Ruey-Meei
authors.initials: RM
authors.lastname: Wu
mesh_terms: D000368:Aged; D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D044466:Asian People; D015331:Cohort Studies; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D013624:Taiwan
chemical_list: D019883:Alkyl and Aryl Transferases; C021386:4-hydroxybenzoate polyprenyltransferase
keywords: COQ2; Multiple system atrophy; Parkinson's disease; Risk; p.V393A; rs148156462