Abstract
Cyclin G-associated kinase (GAK) modifies α–synuclein expression levels and affects the susceptibility of Parkinson’s disease (PD). The single-nucleotide polymorphism (SNP) rs1564282 of GAK gene has a significant association to the risk of PD among Caucasian populations. To date there is only one data with regards to ethnic Chinese from Mainland China. Here, we conducted a case-control study in two independent cohorts of Han Chinese populations from Taiwan and Singapore to validate this association. A total of 1,755 subjects (871 PD patients and 884 controls) were recruited. The results showed that neither the CT, TT genotypes nor the minor allele T of SNP rs1564282 were associated with PD among the subjects from Taiwan and Singapore as well as in the pooled analysis. Differences in our study population with regards to published literature may be due to epigenetic factors and gene-gene or gene-environmental interactions. Further studies in other Chinese populations will be of interest to validate these findings.
Highlights
Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, with a prevalence of,1% over 60 years of age [1]
To understand the genetic effects across different populations, we aimed to investigate the genetic susceptibilities of single-nucleotide polymorphism (SNP) rs1564282 in G-associated kinase (GAK) among Han Chinese in the Taiwan and Singapore populations
GAK was first recognized as the susceptible gene associated with PD in a cohort of familial PD study [15]
Summary
Parkinson’s disease (PD) is one of the most common neurodegenerative diseases, with a prevalence of ,1% over 60 years of age [1] It is characterized by the cardinal features of bradykinesia, muscular rigidity, 4–6 Hz resting tremor, postural instability and non-motor symptoms such as cognitive impairment, depression, anosmia, dysautonomia, sleep disorders [2], all of which can significantly decrease patient’s quality of life. In search of disease etiology, gene mutations cause only a small proportion of all cases and that in most cases, non-genetic factors play a part, probably in interaction with susceptibility genes [1]. Several pathogenic genes and susceptibility loci of Parkinson’s disease (PD) have been identified in both familial and sporadic cases in the last decade [4]. Thirteen loci showed genome-wide significant (p,561028) association with disease risk: BST1, CCDC62/HIP1R, DGKQ/GAK, GBA, ITGA8, LRRK2, MAPT, MCCC1/LAMP3, PARK16, SNCA, STK39, SYT11/ RAB25, and RIT2 have been found [5,6,7]
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