Mutational analysis of Angiogenin gene in Parkinson's disease
Journal
PLoS ONE
Journal Volume
9
Journal Issue
11
Pages
e112661
Date Issued
2014
Author(s)
Abstract
Mutations in the angiogenic factor, angiogenin (ANG), have been identified in patients with both familial and sporadic amyotrophic lateral sclerosis (ALS) and are thought to have a neuroprotective function. Parkinsonism has been noted in kindreds with ANG mutations and variants in the ANG gene have been found to associate with PD in two Caucasian populations. We therefore hypothesized that mutations in ANG may also contribute to idiopathic Parkinson's disease (PD). We sequenced ANG gene in a total of 1498 participants comprising 750 PD patients and 748 age/gender matched controls from Taiwan. We identified one novel synonymous substitution, c.C100T (p.L10L), in a single heterozygous state in one PD patient, which was not observed in controls. The clinical phenotypes and [99mTc]-TORDAT-SPECT images of the p.L10L carrier were similar to that seen in idiopathic PD. In addition, we also identified one common variant, c.T330G (p.G110G, rs11701), which was previously reported to associate with PD risk in Caucasians. However, the frequency of TG/GG genotype was comparable between PD cases and controls (odds ratio: 0.85, 95% confidence interval: 0.29-2.55, P = 0.78). Our results did not support that ANG rs11701 variant is a genetic risk factor for PD in our population. We conclude that mutations in ANG are not a common cause for idiopathic PD. ? 2014 Chen et al.
SDGs
Other Subjects
angiogenin; angiogenin; pancreatic ribonuclease; adult; aged; angiogenin gene; Article; controlled study; ethnic difference; female; gene mutation; gene sequence; genetic association; genetic risk; genetic variability; genotype; heterozygote; human; idiopathic disease; major clinical study; male; mutational analysis; Parkinson disease; phenotype; Taiwanese; adolescent; Asian continental ancestry group; case control study; gene frequency; genetic predisposition; genetics; middle aged; mutation; nucleotide sequence; Parkinson disease; single nucleotide polymorphism; Taiwan; very elderly; young adult; Adolescent; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; Case-Control Studies; DNA Mutational Analysis; Female; Gene Frequency; Genetic Predisposition to Disease; Heterozygote; Humans; Male; Middle Aged; Mutation; Parkinson Disease; Polymorphism, Single Nucleotide; Ribonuclease, Pancreatic; Taiwan; Young Adult
Publisher
Public Library of Science
Type
journal article