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11号染色体q臂上基因多态性与阿尔茨海默病易感性关联的荟萃分析。

Meta-analysis of association between the genetic polymorphisms on chromosome 11q and Alzheimer's disease susceptibility.

作者信息

Ji Weidong, Xu Lanling, Zhou Haiyun, Wang Suishan, Fang Yan

机构信息

Department of Neurology, The First People's Hospital of Shangqiu City Shangqiu 476000, China.

Department of Infedtious Diseases, East Hospital, The Branch of The First People's Hospital of Shangqiu City Shangqiu 476000, China.

出版信息

Int J Clin Exp Med. 2015 Oct 15;8(10):18235-44. eCollection 2015.

PMID:26770425
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4694325/
Abstract

Alzheimer's disease (AD) is a neurodegenerative disease mostly occurred in the elderly. Genetic mutation is one of well-established risk factors for AD. Several polymorphisms on chromosome 11q were reported to be associated with AD susceptibility. Hence we performed a meta-analysis to systematically assess the association between the most-reported polymorphisms on chromosome 11q (rs10793294, rs7115850, rs7101429, rs4945261, rs2373115, rs670142, rs610932, rs541458 and rs3851179) and AD risk. A comprehensive literature search in the electronic databases was performed to identify all eligible studies. The pooled odds ratios (OR) and 95% confidence intervals (95% CI) were calculated to evaluate the association between 11q variants and AD risk by using the allelic model. Sensitivity analysis was carried out to analyze the influence of single study on the overall results. Begg's funnel plots and Egger's test were used to assess the publication biases among studies. All the statistical analyses were conducted by using STATA 12.0 Software (Stata Corp, College Station, TX, USA). A total of 35 eligible articles were included in our meta-analysis. Our data showed that the polymorphism of rs610932 were significantly associated with lower AD risk with a pooled OR of 0.88 (95% CI: 0.84-0.92, P=0.005). The other SNPs of rs494526 (OR=0.83, 95% CI: 0.65-1.00, P<0.001), rs2373115 (OR=0.85, 95% CI: 0.75-0.95, P<0.001) and rs670139 (OR=1.09, 95% CI: 1.05-1.12, P=0.554) were shown to be correlated with lower AD risk. Subgroup analysis revealed a similar result in Caucasians. But only the rs610932 polymorphism was found to be associated with lower AD risk in Asians. The polymorphism of rs610932 was shown to be a risk factor for AD while the other three genetic variants (rs494526, rs2373115 and rs610932) may act as protective factors against AD.

摘要

阿尔茨海默病(AD)是一种主要发生在老年人中的神经退行性疾病。基因突变是AD公认的风险因素之一。据报道,11号染色体q上的几种多态性与AD易感性相关。因此,我们进行了一项荟萃分析,以系统评估11号染色体q上报道最多的多态性(rs10793294、rs7115850、rs7101429、rs4945261、rs2373115、rs670142、rs610932、rs541458和rs3851179)与AD风险之间的关联。我们在电子数据库中进行了全面的文献检索,以识别所有符合条件的研究。通过等位基因模型计算合并优势比(OR)和95%置信区间(95%CI),以评估11q变异与AD风险之间的关联。进行敏感性分析以分析单个研究对总体结果的影响。使用Begg漏斗图和Egger检验评估研究之间的发表偏倚。所有统计分析均使用STATA 12.0软件(美国德克萨斯州大学站市Stata公司)进行。我们的荟萃分析共纳入35篇符合条件的文章。我们的数据显示,rs610932的多态性与较低的AD风险显著相关,合并OR为0.88(95%CI:0.84 - 0.92,P = 0.005)。rs494526(OR = 0.83,95%CI:0.65 - 1.00,P < 0.001)、rs2373115(OR = 0.85,95%CI:0.75 - 0.95,P < 0.001)和rs670139(OR = 1.09,95%CI:1.05 - 1.12,P = 0.554)的其他单核苷酸多态性(SNP)也显示与较低的AD风险相关。亚组分析在白种人中得出了类似的结果。但在亚洲人中,仅发现rs610932多态性与较低的AD风险相关。rs610932的多态性被证明是AD的一个风险因素,而其他三个基因变异(rs494526、rs2373115和rs610932)可能作为AD的保护因素。 (注:原文中“rs670139”在前面列出时为“rs670142”,这里译文按照前面列出的“rs670142”翻译,但根据后面计算结果推测可能有误,若按计算结果这里应该是“rs670139”,请根据实际情况确认)

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