Association analysis of PARK16-18 variants and Parkinson鈥檚 disease in a Chinese population

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• 作者：Li-Li Zhou^a ; Xiong Zhang^a ; ¹ ; ^{zhangxiong98@gmail.com" class="auth_mail} ; Qiong-Qiong Bao^a ; Rong-Pei Liu^a ; Mei-Ying Gong^b ; Guang-Yun Mao^b ; Ming Zou^a ; Jian-Hong Zhu^a ; ^b ; ^{jianhong.zhu@gmail.com" class="auth_mail}
• 关键词：Association ; Chinese ; Gene polymorphism ; Parkinson&rsquo ; s disease
• 刊名：Journal of Clinical Neuroscience
• 出版年：June 2014
• 年：2014
• 卷：21
• 期：6
• 页码：1029-1032
• 全文大小：263 K

文摘

Genome-wide association studies identified PARK16 variants rs823128 and rs947211, PARK17/GAK rs11248051 and PARK18/HLA-DRA rs3129882 as risk factors for Parkinson’s disease (PD). However the susceptibility of these loci to predisposing individuals for PD, particularly rs11248051, remains under investigation in Chinese populations. A total of 323 PD patients and 345 age and sex matched controls were recruited in eastern China. Our results show that minor allele frequencies of rs11248051 (odds ratio [OR] 1.522; p = 0.016) and rs3129882 (OR 1.294; p = 0.03), but not rs823128 and rs947211, were associated with risk for PD. Genetic interaction analysis revealed that subjects simultaneously carrying the T allele (TC or TT) of rs11248051 and the A allele (AG or AA) of rs3129882 had an aggravated risk (OR 1.91; p = 0.016) of PD. However, rs11248051 or rs3129882 displayed no association with PD phenotypes or clinical scores. Our results suggest that rs11248051 and rs3129882 are risk factors for sporadic PD in a Chinese population, and their genetic interplay contributes to an elevated risk for PD predisposition. Our data provide a novel insight and further information regarding PARK16-18 loci in PD susceptibility.