Department of Geriatrics & Neurology, The Second Affiliated Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Department of Geriatrics & Neurology, The Second Affiliated Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
J Clin Neurosci. 2014 Jun;21(6):1029-32. doi: 10.1016/j.jocn.2013.09.015. Epub 2013 Nov 14.
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.
全基因组关联研究鉴定出 PARK16 变异 rs823128 和 rs947211、PARK17/GAK rs11248051 和 PARK18/HLA-DRA rs3129882 是帕金森病 (PD) 的风险因素。然而，这些基因座对易患个体易患 PD 的易感性，特别是 rs11248051，在中国人群中仍在研究中。在中国东部地区共招募了 323 名 PD 患者和 345 名年龄和性别匹配的对照者。我们的结果表明，rs11248051（比值比 [OR] 1.522；p=0.016）和 rs3129882（OR 1.294；p=0.03）的次要等位基因频率与 PD 风险相关，但 rs823128 和 rs947211 则不然。遗传相互作用分析表明，同时携带 rs11248051 的 T 等位基因 (TC 或 TT) 和 rs3129882 的 A 等位基因 (AG 或 AA) 的个体患 PD 的风险加重（OR 1.91；p=0.016）。然而，rs11248051 或 rs3129882 与 PD 表型或临床评分均无关联。我们的研究结果表明，rs11248051 和 rs3129882 是中国人群散发性 PD 的风险因素，其遗传相互作用导致 PD 易感性升高。我们的数据为 PARK16-18 基因座在 PD 易感性中的作用提供了新的见解和进一步的信息。
