The single nucleotide polymorphism Rs12817488 is associated with Parkinson’s disease in the Chinese population

• Published in: Journal of clinical neuroscience 2015-06, Vol.22 (6), p.1002-1004
• Main Authors: Yu, Ri-li, Guo, Ji-feng, Wang, Ya-qin, Liu, Zhen-hua, Sun, Zhan-fang, Su, Li, Zhang, Yuan, Yan, Xin-xiang, Tang, Bei-sha
• Format: Article
• Language: English
• Subjects: Adult; Aged; Alleles; Asian Continental Ancestry Group - genetics; Case-Control Studies; CCDC62/HIP1R; Female; Gene Frequency; Genetic Predisposition to Disease - genetics; Genome-wide association studies; Genome-Wide Association Study; Genotype; Humans; Male; Middle Aged; Neurology; Parkinson Disease - genetics; Parkinson’s disease; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Risk Factors; Single nucleotide polymorphism; SNP rs12817488; Transcription Factors - genetics; Vesicular Transport Proteins - genetics
• ISSN: 0967-5868; 1532-2653
• DOI: 10.1016/j.jocn.2014.11.024

Abstract A recent meta-analysis of datasets from five of the published Parkinson’s disease (PD) genome-wide association studies implicated the single nucleotide polymorphism (SNP) rs12817488 in coiled-coil domain containing 62 (CCDC62)/huntingtin interacting protein 1 related (HIP1R) as a risk factor for PD. We conducted a case-control study to evaluate the possible association between rs12817488 and PD in Chinese people. All patients (515 PD patients and 518 age and sex-matched controls) were successfully genotyped using polymerase chain reaction restriction fragment length polymorphism analysis. We observed that the rs12817488 polymorphism is associated with PD ( p = 0.003) and that the genotype and allele frequencies showed a difference between late-onset PD patients and male controls ( p = 0.025 and p = 0.007, respectively). However, there was no difference in the early-onset PD patients and controls. We found a difference in the genotype and allele frequencies between the male PD patients and the male controls ( p = 0.034 and p = 0.017, respectively). However, there was no difference in females. Patients with the A allele were susceptible to PD in both dominant (GA+AA versus GG; odds ratio [OR] 1.365, 95% confidence interval [CI] 1.041–1.788) and recessive (AA versus GG+GA; OR 1.606, 95% CI 1.194–2.158) models. Therefore, our findings support the conclusion that the rs12817488 in CCDC62/HIP1R polymorphism may increase the risk of PD in the Chinese Han population.