Wang Tengfei
Department of Pharmacology, University of Tennessee Health Science Center, Memphis, TN, USA.
Neurosci Lett. 2014 Jun 27;574:41-6. doi: 10.1016/j.neulet.2014.05.017. Epub 2014 May 22.
The PvuII and XbaI polymorphisms of ESR1 gene have been reported in the Alzheimer's disease (AD) studies. However, whether these ESR1 genetic variants can contribute to the risk of AD remains controversial. Herein, we conducted a meta-analysis to clarify the association between ESR1 polymorphisms and the occurrence of AD. Articles were identified by systematic searches in PubMed, Google scholar and Wan Fang Med Online database. The combined odds ratios (OR) and 95% confidence intervals (CI) were calculated within different inherited models. Publication bias tests, subgroup analyses and sensitive analyses were also performed. Overall, the PvuII variant was negatively associated with AD in the Caucasian population (pp vs PP+Pp, OR 0.86, 95%CI (0.76, 0.96)). However, there was a poor association between XbaI polymorphism and AD in European populations. In particular, PvuII variant was found significantly associated with a decreased AD risk in South European samples (pp vs PP+Pp, OR 0.86, 95%CI (0.75, 0.98)). This meta-analysis indicated that regional European differences of ESR1 PvuII polymorphism in the association with the occurrence of AD, which need to be further identified, especially in South European countries.
雌激素受体1（ESR1）基因的PvuII和XbaI多态性已在阿尔茨海默病（AD）研究中被报道。然而，这些ESR1基因变异是否会增加AD风险仍存在争议。在此，我们进行了一项荟萃分析，以阐明ESR1多态性与AD发生之间的关联。通过在PubMed、谷歌学术和万方医学在线数据库中进行系统检索来确定相关文章。在不同的遗传模型中计算合并比值比（OR）和95%置信区间（CI）。还进行了发表偏倚检验、亚组分析和敏感性分析。总体而言，在白种人群中，PvuII变异与AD呈负相关（pp与PP + Pp相比，OR为0.86，95%CI为(0.76, 0.96)）。然而，在欧洲人群中，XbaI多态性与AD之间的关联较弱。特别是，在南欧样本中发现PvuII变异与AD风险降低显著相关（pp与PP + Pp相比，OR为0.86，95%CI为(0.75, 0.98)）。这项荟萃分析表明，ESR1基因PvuII多态性与AD发生之间的关联存在欧洲区域差异，这需要进一步确定，尤其是在南欧国家。
