UCHL1 S18Y 多态性与日本人群帕金森病的关系。
The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population.
机构信息
Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington, USA.
出版信息
Parkinsonism Relat Disord. 2011 Jul;17(6):473-5. doi: 10.1016/j.parkreldis.2011.01.019. Epub 2011 Feb 22.
UCHL1 plays an important role in the ubiquitin-proteasome system and is a biologically plausible candidate gene for Parkinson's disease (PD). However, results from genetic association studies of the UCHL1 S18Y polymorphism have been equivocal. Meta-analyses indicate that the polymorphism's risk effect might be restricted to Asian populations and early-onset disease. To further explore the role of UCHL1 in PD, we genotyped S18Y in 605 PD patients and 1620 controls of Japanese ancestry. We did not find evidence of an association in the overall sample (SY vs. SS: adjusted OR=1.11, P=0.37; YY vs. SS: adjusted OR=1.01, P=0.94). In the early-onset stratum, however, we observed a trend toward a reduction in risk for those with the Y allele (SY vs. SS, adjusted OR, 0.75; 95% CI, 0.47-1.20; YY vs. SS, OR, 0.64; 95% CI, 0.36-1.14; trend test, P=0.12). These results indicate that, if involved in PD, the S18Y variant is not a major determinant of risk and its effect might be restricted to early-onset disease.
UCHL1 在泛素蛋白酶体系统中发挥重要作用，是帕金森病（PD）的一个合理的候选基因。然而，UCHL1 S18Y 多态性的遗传关联研究结果尚无定论。荟萃分析表明，该多态性的风险效应可能仅限于亚洲人群和早发性疾病。为了进一步探讨 UCHL1 在 PD 中的作用，我们对 605 名日本裔 PD 患者和 1620 名对照进行了 S18Y 基因分型。我们在总样本中未发现关联证据（SY 与 SS：调整后的 OR=1.11，P=0.37；YY 与 SS：调整后的 OR=1.01，P=0.94）。然而，在早发性疾病亚组中，我们观察到携带 Y 等位基因的个体风险降低的趋势（SY 与 SS，调整后的 OR，0.75；95%CI，0.47-1.20；YY 与 SS，OR，0.64；95%CI，0.36-1.14；趋势检验，P=0.12）。这些结果表明，如果 UCHL1 多态性与 PD 有关，那么 S18Y 变体不是风险的主要决定因素，其效应可能仅限于早发性疾病。
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