The single nucleotide polymorphism Rs12817488 is associated with Parkinson's disease in the Chinese population
The single nucleotide polymorphism Rs12817488 is associated with Parkinson's disease in the Chinese population
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Rs12817488单核苷酸多态性与中国人群帕金森病相关
DOI：
10.1016/j.jocn.2014.11.024
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发表时间：
2015
影响因子：
2
通讯作者：
Tang Bei sha
中科院分区：
文献类型：
--
作者：
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
最近对5项已发表的帕金森病（PD）全基因组关联研究的数据集进行的荟萃分析表明，卷曲螺旋结构域62（CCDC 62）/亨廷顿蛋白相互作用蛋白1相关（HIP 1 R）中的单核苷酸多态性（SNP）rs 12817488是PD的危险因素。我们进行了一项病例对照研究，以评估中国人中rs 12817488与PD的可能关联。所有患者（515名PD患者和518名年龄和性别匹配的对照）均使用聚合酶链反应限制性片段长度多态性分析成功进行了基因分型。我们观察到rs 12817488多态性与帕金森病相关（p= 0.003），并且晚发性帕金森病患者和男性对照之间的基因型和等位基因频率存在差异（分别为p= 0.025和p = 0.007）。然而，在早发性PD患者和对照组中没有差异。我们发现男性PD患者和男性对照组之间的基因型和等位基因频率存在差异（分别为p= 0.034和p = 0.017）。然而，在女性中没有差异。在显性模型（GA+ AA versusGG;比值比[OR] 1.365，95%置信区间[CI] 1.041-1.788）和隐性模型（AA versusGG +GA; OR 1.606，95%CI 1.194-2.158）中，具有A等位基因的患者对PD易感。因此，我们的研究结果支持CCDC 62/HIP 1 R基因多态性rs 12817488可能增加中国汉族人群PD的风险的结论。
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 andp= 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 andp= 0.017, respectively). However, there was no difference in females. Patients with the A allele were susceptible to PD in both dominant (GA+AAversusGG; odds ratio [OR] 1.365, 95% confidence interval [CI] 1.041–1.788) and recessive (AAversusGG+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.