Rare POLG1 CAG variants do not influence Parkinson's disease or polymerase gamma function

No Thumbnail Available
File version
Author(s)
Bentley, Steven R
Shan, Jianguo
Todorovic, Michael
Wood, Stephen A
Mellick, George D
Griffith University Author(s)
Primary Supervisor
Other Supervisors
Editor(s)
Date
2014
Size
File type(s)
Location
License
Abstract

A recent meta-analysis suggested that rare CAG repeat variants in the gene that encodes polymerase gamma (POLG1) predispose individuals to develop Parkinson's disease (PD); alternative alleles were proposed to increase risk by 27%. In the current case-control study of 2255 Australians, we observed no statistical association between individuals possessing rare CAG repeat genotypes and PD (p = 0.178); a subsequent meta-analysis of 2852 PD cases and 2833 controls was also non-significant (OR = 1.085, p = 0.124). Moreover, mitochondrial DNA synthesis (p = 0.427) or Complex I activity (p = 0.639) were not different in cells derived from individuals with different POLG1 genotypes. These data provide no evidence to suggest CAG repeat length in POLG1 affects PD susceptibility.

Journal Title

Mitochondrion

Conference Title
Book Title
Edition
Volume

15

Issue
Thesis Type
Degree Program
School
Publisher link
Patent number
Funder(s)
Grant identifier(s)
Rights Statement
Rights Statement
Item Access Status
Note
Access the data
Related item(s)
Subject

Genetics

Neurogenetics

Biochemistry and cell biology

Persistent link to this record
Citation
Collections