Presenilin-2 polymorphisms and risk of sporadic AD: evidence from a meta-analysis.
Presenilin-2 polymorphisms and risk of sporadic AD: evidence from a meta-analysis.
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Presenilin-2 多态性和散发性 AD 风险：来自荟萃分析的证据。
作者：
Chun;Zhou Zhou;Maoquan Li;Ming;Qinlong Ma;Min Zhong;Yan;Zheng
早老素-2（PSEN 2）多态性和散发性阿尔茨海默病（AD）的关联研究产生了不一致的结果，可能是因为单一研究往往缺乏足够的统计能力。在这项研究中，我们进行了一项荟萃分析，以评估两个最广泛研究的PSEN 2多态性，rs 8383和5′indel，与散发性AD的风险的关联。我们系统地回顾了Medline、Pubmed、Embase、AlzGene和CNKI检索到的相关研究。使用Stata（v11.0）软件包分析数据。根据研究间异质性采用固定效应模型或随机效应模型。使用Egger检验和Begg漏斗图评价发表偏倚。总体而言，荟萃分析包括每个多态性的6个病例对照研究，共有2186例确诊的AD病例和2507例健康对照。分析表明SNP rs 8383多态性与AD风险之间存在显著相关性，没有证据表明研究间异质性或发表偏倚。相比之下，我们没有发现5′indel多态性与AD风险之间存在关联的证据。根据载脂蛋白ε4状态或种族进一步分层分析也未能揭示PSEN 2的5′indel多态性与AD风险之间的统计学显著相关性。我们的分析支持PSEN 2 rs 8383多态性与散发性AD风险增加相关的假设。然而，更大规模的关联研究是必要的，以进一步验证PSEN 2多态性与散发性AD风险的关联，并确定潜在的基因-基因相互作用。
Association studies of presenilin-2 (PSEN2) polymorphisms and sporadic Alzheimer's disease (AD) have yielded inconsistent results, possibly because single studies often lack sufficient statistical power. In this study, we performed a meta-analysis to evaluate the association of the two most extensively studied PSEN2 polymorphisms, rs8383 and 5′indel, with the risk of sporadic AD. We systematically reviewed relevant studies retrieved by Medline, Pubmed, Embase, AlzGene, and CNKI. Data were analyzed using the Stata (v11.0) software package. The fixed effects model or random-effects model were applied depending on between-study heterogeneity. Publication bias was evaluated using Egger's test and Begg's funnel plots. Overall, the meta-analysis included 6 case–control studies for each polymorphism with 2186 confirmed AD cases and 2507 healthy controls in total. Analysis suggested a significant association between SNP rs8383 polymorphism and AD risk with no evidence of between-study heterogeneity or publication bias. In contrast, we found no evidence for an association between the 5′indel polymorphism and AD risk. Further stratified analyses by apolipoprotein ε4 status or ethnicity also failed to reveal a statistically significant association between the 5′indel polymorphism of PSEN2 and AD risk. Our analysis supports the hypothesis that the PSEN2 rs8383 polymorphism is associated with an enlarged risk of sporadic AD. However, larger scale association studies are necessary to further validate the association of PSEN2 polymorphisms with sporadic AD risk and to define potential gene–gene interactions.
阿尔茨海默病中的早老素多态性。
DOI：
10.1016/s0140-6736(05)63300-4
发表时间：
1997
期刊：
Lancet (London, England)
影响因子：
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作者：
Korovaitseva,GI;Bukina,A;Farrer,LA;Rogaev,EI
通讯作者：
Rogaev,EI