title: Genetic association study between STK39 and CCDC62/HIP1R and Parkinson's disease.
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.
authors: Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors: Nan-Nan
authors: NN
authors: Li
authors: Eng-King
authors: EK
authors: Tan
authors: Xue-Li
authors: XL
authors: Chang
authors: Xue-Ye
authors: XY
authors: Mao
authors: Jin-Hong
authors: JH
authors: Zhang
authors: Dong-Mei
authors: DM
authors: Zhao
authors: Qiao
authors: Q
authors: Liao
authors: Wen-Juan
authors: WJ
authors: Yu
authors: Rong
authors: R
authors: Peng
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008840:Microfilament Proteins; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C531357:CCDC62 protein, human; C489537:HIP1R protein, human; D008840:Microfilament Proteins; D014157:Transcription Factors; D033921:Vesicular Transport Proteins; D017346:Protein Serine-Threonine Kinases; C486409:STK39 protein, human