Ontology highlight
ABSTRACT: Background
The first large-scale meta-analysis of published genome-wide association studies (GWAS) in Parkinson's disease (PD) identified 5 new genetic loci (ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R). Very recently, a large-scale replication and heterogeneity study also reported that STK39 and CCDC62/HIP1R increased risk of PD in Asian and Caucasian populations. However, their roles still remain unclear in a Han Chinese population from mainland China.Methods
We examined genetic associations of STK39 rs2102808 and CCDC62/HIP1R rs12817488 with PD susceptibility in a Han Chinese population of 783 PD patients and 725 controls. We also performed further stratified analyses by the age of onset and accomplished in-depth clinical characteristics analyses between the different genotypes for each locus.Results
No significant differences were observed in the minor allele frequency (MAF) among cases and controls at the two loci (STK39 rs2102808: OR?=?1.06, 95% CI?=?0.91, 1.23, P?=?0.467; CCDC62/HIP1R rs12817488: OR?=?0.88, 95% CI?=?0.76, 1.01, P?=?0.072). Subgroup analyses by the age of onset also showed no significant differences among different subgroups of the two loci. In addition, minor allele carriers cannot be distinguished from non-carriers based on their clinical features at the two loci.Conclusions
We are unable to demonstrate the association between STK39 and CCDC62/HIP1R and PD susceptibility in a Han Chinese population from mainland China. Additional replication studies in other populations and functional studies are warranted to better validate the role of the two new loci in PD risk.
SUBMITTER: Li NN
PROVIDER: S-EPMC3842305 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Li Nan-Nan NN Tan Eng-King EK Chang Xue-Li XL Mao Xue-Ye XY Zhang Jin-Hong JH Zhao Dong-Mei DM Liao Qiao Q Yu Wen-Juan WJ Peng Rong R
PloS one 20131127 11
<h4>Background</h4>The first large-scale meta-analysis of published genome-wide association studies (GWAS) in Parkinson's disease (PD) identified 5 new genetic loci (ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R). Very recently, a large-scale replication and heterogeneity study also reported that STK39 and CCDC62/HIP1R increased risk of PD in Asian and Caucasian populations. However, their roles still remain unclear in a Han Chinese population from mainland China.<h4>Methods</h4>We examined ...[more]