COQ2 p.V393A variant, rs148156462, is not associated with Parkinson's disease in a Taiwanese population

Chin-Hsien Lin; Hang-I Lin; Meng-Ling Chen; Ruey-Meei Wu

doi:10.1016/j.neurobiolaging.2014.08.006

COQ2 p.V393A variant, rs148156462, is not associated with Parkinson's disease in a Taiwanese population

Neurobiol Aging. 2015 Jan;36(1):546.e17-8. doi: 10.1016/j.neurobiolaging.2014.08.006. Epub 2014 Aug 13.

Authors

Chin-Hsien Lin¹, Hang-I Lin¹, Meng-Ling Chen², Ruey-Meei Wu³

Affiliations

¹ Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
² Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Life Science, National Taiwan University, Taipei, Taiwan.
³ Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: robinwu@ntu.edu.tw.

PMID: 25200193
DOI: 10.1016/j.neurobiolaging.2014.08.006

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.

Keywords: COQ2; Multiple system atrophy; Parkinson's disease; Risk; p.V393A; rs148156462.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Aged
Alkyl and Aryl Transferases / genetics*
Asian People
Cohort Studies
Female
Genetic Linkage
Genetic Predisposition to Disease / genetics
Genetic Variation*
Genotyping Techniques
Humans
Male
Middle Aged
Multiple System Atrophy / genetics
Parkinson Disease / genetics*
Taiwan

Substances

Alkyl and Aryl Transferases
4-hydroxybenzoate polyprenyltransferase