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UCHL1 S18Y基因多态性与亚洲人群帕金森病之间缺乏关联:一项荟萃分析。

Lack of association between UCHL1 S18Y gene polymorphism and Parkinson's disease in the Asian population: a meta-analysis.

作者信息

Sun Shuang, Zhao Yan, Jin Guojiang, Kang Hui

机构信息

Department of Laboratory Medicine, The First Affiliated Hospital of China Medical University, Shenyang, 110001, Liaoning, China.

出版信息

Neurol Sci. 2014 Dec;35(12):1867-76. doi: 10.1007/s10072-014-1973-4. Epub 2014 Oct 30.

DOI:10.1007/s10072-014-1973-4
PMID:25354657
Abstract

Although many case-control studies have investigated the association between a single UCHL1 S18Y gene polymorphism and the risk of Parkinson's disease (PD), the results have been ambiguous. To evaluate the overall effect between published case-control studies of Asian subjects, we conducted a meta-analysis based on 11 studies including 3,971 PD cases and 3,721 controls. Studies carried out up to 30 April 2014, were identified using the databases PubMed, MEDLINE, EMBASE and Web of Knowledge. The crude odds ratios (ORs) with 95 % confidence intervals (95 % CI) were calculated to evaluate the association. The results of our meta-analysis indicated that the UCHL1 S18Y gene polymorphism does not correlate with the risk of PD (allele model: OR 0.93, 95 % CI 0.84-1.02; dominant model: OR 0.94, 95 % CI 0.86-1.04; recessive model: OR 0.90, 95 % CI 0.77-1.06; homozygous model: OR 0.86, 95 % CI 0.71-1.04). A similar result was observed in subgroup analysis of ethnicity, age at onset, genotype methods, Hardy-Weinberg equilibrium, and source of controls. Thus, the current meta-analysis suggests no evidence for the association between the UCHL1 S18Y polymorphism and PD risk in the Asian population, especially in subgroups of ethnicity and age at onset. Further studies with larger population sizes are needed to confirm this result.

摘要

尽管许多病例对照研究调查了单个UCHL1 S18Y基因多态性与帕金森病(PD)风险之间的关联,但其结果一直不明确。为了评估已发表的亚洲受试者病例对照研究之间的总体效应,我们基于11项研究进行了荟萃分析,其中包括3971例PD病例和3721例对照。利用PubMed、MEDLINE、EMBASE和Web of Knowledge数据库检索截至2014年4月30日开展的研究。计算粗比值比(OR)及其95%置信区间(95%CI)以评估这种关联。我们的荟萃分析结果表明,UCHL1 S18Y基因多态性与PD风险无关(等位基因模型:OR 0.93,95%CI 0.84 - 1.02;显性模型:OR 0.94,95%CI 0.86 - 1.04;隐性模型:OR 0.90,95%CI 0.77 - 1.06;纯合子模型:OR 0.86,95%CI 0.71 - 1.04)。在种族、发病年龄、基因分型方法、哈迪-温伯格平衡和对照来源的亚组分析中观察到了类似结果。因此,当前的荟萃分析表明,在亚洲人群中,尤其是在种族和发病年龄亚组中,没有证据支持UCHL1 S18Y多态性与PD风险之间存在关联。需要进一步开展更大样本量的研究来证实这一结果。

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本文引用的文献

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J Neurol. 2012 Nov;259(11):2503-5. doi: 10.1007/s00415-012-6623-2. Epub 2012 Aug 10.
2
UCHL1 S18Y variant is a risk factor for Parkinson's disease in Japan.UCHL1 S18Y 变异是日本帕金森病的一个风险因素。
BMC Neurol. 2012 Jul 28;12:62. doi: 10.1186/1471-2377-12-62.
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Parkinsonism Relat Disord. 2011 Jul;17(6):473-5. doi: 10.1016/j.parkreldis.2011.01.019. Epub 2011 Feb 22.
5
Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population.中国人群散发性帕金森病中 UCH-L1 S18Y 变异的病例对照研究。
J Clin Neurosci. 2011 Apr;18(4):541-4. doi: 10.1016/j.jocn.2010.07.142. Epub 2011 Feb 18.
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Ubiquitin specific proteases USP24 and USP40 and ubiquitin thiolesterase UCHL1 polymorphisms have synergic effect on the risk of Parkinson's disease among Taiwanese.泛素特异性蛋白酶 USP24 和 USP40 以及泛素硫酯酶 UCHL1 多态性在台湾人群帕金森病风险中具有协同作用。
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Association between the ubiquitin carboxyl-terminal esterase L1 gene (UCHL1) S18Y variant and Parkinson's Disease: a HuGE review and meta-analysis.泛素羧基末端水解酶L1基因(UCHL1)S18Y变异与帕金森病之间的关联:一项HuGE综述与荟萃分析。
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