Department of Neurology, Shanghai Pudong New Area Gongli Hospital, 219 Miao Pu Road, Shanghai 200135, PR China.
Gene. 2012 Dec 1;510(2):147-53. doi: 10.1016/j.gene.2012.09.009. Epub 2012 Sep 13.
In the past decade, a number of case-control studies have been carried out to investigate the relationship between ABCA1 polymorphisms and Alzheimer's disease (AD). However, these studies have yielded contradictory results. To investigate this inconsistency, a meta-analysis was performed.
Databases including PubMed, Web of Science, EMBASE and CNKI were searched to find relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association.
A total of 13 case-control studies, involving 6214 patients and 6034 controls for ABCA1 polymorphisms were included. In a combined analysis, the summary per-allele odds ratio for AD of the 219K was 1.03 (95% CI: 0.93-1.14, p=0.56). A meta-analysis of studies on the 883M and 1587K variant showed no significant overall association with AD, yielding a per-allele odds ratio of 1.10 (95% CI: 0.96-1.26, p=0.16), and 1.09 (95% CI: 0.97-1.24, p=0.16) respectively. Similar results were also found for heterozygous and homozygous. In the subgroup analysis by ethnicity, sample size, APOE status and onset type, no significant associations were found in almost all genetic models.
In summary, there was no significant association detected between ABCA1 R219K, I883M and R1587K polymorphisms and risk for AD.
在过去十年中，进行了许多病例对照研究，以调查 ABCA1 多态性与阿尔茨海默病（AD）之间的关系。然而，这些研究得出了相互矛盾的结果。为了研究这种不一致性，进行了荟萃分析。
检索了 PubMed、Web of Science、EMBASE 和 CNKI 等数据库，以查找相关研究。使用优势比（OR）及其 95%置信区间（CI）来评估关联的强度。
共纳入了 13 项病例对照研究，涉及 ABCA1 多态性的 6214 例患者和 6034 例对照。综合分析显示，AD 患者的 ABCA1 219K 每等位基因的优势比为 1.03（95%CI：0.93-1.14，p=0.56）。对 883M 和 1587K 变体的研究进行荟萃分析显示，与 AD 无显著总体关联，每等位基因的优势比分别为 1.10（95%CI：0.96-1.26，p=0.16）和 1.09（95%CI：0.97-1.24，p=0.16）。杂合子和纯合子也得到了类似的结果。按种族、样本量、APOE 状态和发病类型进行亚组分析，在几乎所有遗传模型中均未发现显著相关性。
总之，ABCA1 R219K、I883M 和 R1587K 多态性与 AD 风险之间未发现显著相关性。
