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亚洲人群 PDE4D 基因变异与缺血性脑梗死风险的关联的荟萃分析。

Meta-analysis of association between variation in the PDE4D gene and ischemic cerebral infarction risk in Asian populations.

机构信息

Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China.

出版信息

Neurogenetics. 2010 Jul;11(3):327-33. doi: 10.1007/s10048-010-0235-8. Epub 2010 Feb 25.

Abstract

Phosphodiesterase 4D (PDE4D) was found to be associated with increased risk of ischemic stroke by Iceland researchers in 2003. Replication studies have produced conflicting results. A recent meta-analysis reported that no genetic variant of PDE4D demonstrated a reproducible association with ischemic stroke, especially when analyzed with respect to white subjects exclusively. In this study, we aimed to determine the association between PDE4D and ischemic infarction risk in Asian populations. After collecting all case-control studies in English or Chinese related to the association between PDE4D and ischemic infarction in Asian people, strict selection criteria and exclusion criteria were determined, and a fixed or random effects model was used on the basis of heterogeneity. To measure the strength of the genetic association, a pooled odds ratio (OR) and 95% confidence interval (CI) were calculated for each gene variant. Publication bias was evaluated. None of the Asian subjects were heterozygous for SNP 45 or SNP 41. Only seven studies involving SNP 83 and SNP 87 had sufficient data to allow inclusion into meta-analyses. Statistically significant associations with ischemic infarction in the Asian populations were determined for SNP 83 C allele (OR, 1.22; 95% CI, 1.03-1.43) and SNP 83 CC genotype (OR, 1.42; 95% CI, 1.14-1.77), but not for SNP 83 CC + CT genotypes or SNP 87. PDE4D was associated with ischemic infarction risk in Asian people, and SNP 83 was an important biomarker.

摘要

2003 年,冰岛研究人员发现磷酸二酯酶 4D(PDE4D)与缺血性中风风险增加有关。复制研究产生了相互矛盾的结果。最近的一项荟萃分析报告称,没有 PDE4D 的遗传变异与缺血性中风具有可重复的关联,尤其是当仅针对白种人进行分析时。在这项研究中,我们旨在确定 PDE4D 与亚洲人群缺血性梗死风险之间的关联。在收集了所有与亚洲人群 PDE4D 与缺血性梗死相关的英文或中文病例对照研究后,确定了严格的选择标准和排除标准,并根据异质性使用固定或随机效应模型。为了衡量遗传关联的强度,针对每个基因变异计算了合并优势比(OR)和 95%置信区间(CI)。评估了发表偏倚。没有亚洲受试者 SNP45 或 SNP41 为杂合子。只有 7 项涉及 SNP83 和 SNP87 的研究有足够的数据允许纳入荟萃分析。在亚洲人群中,SNP83 C 等位基因(OR,1.22;95%CI,1.03-1.43)和 SNP83 CC 基因型(OR,1.42;95%CI,1.14-1.77)与缺血性梗死具有统计学显著关联,但 SNP83 CC+CT 基因型或 SNP87 则没有。PDE4D 与亚洲人群缺血性梗死风险相关,SNP83 是一个重要的生物标志物。

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