Department of Neurology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, China.
J Neurol Sci. 2011 Mar 15;302(1-2):68-71. doi: 10.1016/j.jns.2010.11.023. Epub 2010 Dec 21.
A functional SNP (rs9347683) in the promoter region of the parkin gene had been implicated as a risk factor in older Parkinson's disease (PD) patients.
Using a case-control methodology, we genotyped the SNP in the promoter region of the parkin gene to investigate their association with risk of PD and conducted a pooled analysis of published papers in the English literature.
A total of 1087 study subjects comprising 595 patients with PD and 492 unrelated healthy controls were recruited. The frequency of "GG" genotype in the elderly sub-group (≥ 65 years) was higher in PD compared to controls (OR=1.11) though we did not observe any difference in allele or genotype frequencies between the cases and the controls (P>0.05) in the overall PD population. Those with genotype "GG" were associated with a higher Hoehn-Yahr stage compared with PD patients carrying "GT"+"TT" (P=0.040). A pooled analysis involving more than >3000 subjects revealed that the frequency of genotypes in PD patients did not differ from the controls (OR=0.98, 95% CI: 0.86-1.12). However, in the group ≥ 65 years of age, the "GG" genotype was higher in PD (OR=1.51, 95% CI: 1.06-2.13, P=0.020) among the ethnic Chinese.
While we did not demonstrate a significant association of the parkin promoter polymorphism with PD in our sample, the pooled data suggest that the variant may increase the risk of PD in the more elderly population among the ethnic Chinese, suggesting possible ethnicity-specific effect. Further in vitro and in vivo studies to evaluate this functional parkin variant are warranted.
帕金森病（PD）患者中，位于 parkin 基因启动子区域的功能性 SNP（rs9347683）已被认为是一个危险因素。
我们采用病例对照的方法，对 parkin 基因启动子区域的 SNP 进行基因分型，以研究其与 PD 风险的相关性，并对英文文献中的已发表论文进行了汇总分析。
共纳入 1087 名研究对象，包括 595 名 PD 患者和 492 名无关健康对照者。老年亚组（≥65 岁）中“GG”基因型的频率在 PD 患者中高于对照组（OR=1.11），但在整个 PD 人群中，等位基因或基因型频率在病例组与对照组之间无差异（P＞0.05）。与携带“GT”+“TT”基因型的 PD 患者相比，携带基因型“GG”的患者的 Hoehn-Yahr 分期更高（P=0.040）。一项纳入超过 3000 名受试者的汇总分析显示，PD 患者的基因型频率与对照组无差异（OR=0.98，95%CI：0.86-1.12）。然而，在≥65 岁的年龄组中，“GG”基因型在 PD 患者中的频率更高（OR=1.51，95%CI：1.06-2.13，P=0.020），尤其是在汉族人群中。
虽然我们在样本中没有发现 parkin 启动子多态性与 PD 之间存在显著关联，但汇总数据表明，该变体可能会增加汉族人群中年龄较大的 PD 风险，表明可能存在种族特异性效应。进一步的体外和体内研究来评估这种功能性 parkin 变体是必要的。
