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缺血性中风基因研究的大规模荟萃分析:涉及152797人的五个基因。

Large-scale meta-analysis of genetic studies in ischemic stroke: Five genes involving 152,797 individuals.

作者信息

Hamzi Khalil, Tazzite Amal, Nadifi Sellama

机构信息

Laboratory of Human Genetics and Molecular Pathology, Facullty of medicine, UH2C - Casablanca, Morocco.

出版信息

Indian J Hum Genet. 2011 Sep;17(3):212-7. doi: 10.4103/0971-6866.92105.

DOI:10.4103/0971-6866.92105
PMID:22345995
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3276992/
Abstract

BACKGROUND

Ischemic stroke descent has a genetic basis. Stroke represents a complex trait, which is assumed to be polygenic. On this topic, the role of a wide number of candidate genes has been investigated in stroke through association studies.

MATERIALS AND METHODS

We performed a literature-based systematic review of genetic association studies in stroke abound several populations. Odds ratios (ORs) and 95% confidence intervals (CIs) were determined for each gene-disease association. Following a review of 300 manuscripts, five candidate gene variants were analyzed among 152,797 individuals (45,433 cases and 107,364 controls).

RESULTS

For these five candidate genes studied, the prothrombin OR is 1,57 (1,23-2,89), the factor V Leiden OR is 1,43 (0,67-6,24), the mean OR of angiotensin I converting enzyme (ACE) insertion/deletion (I/D) polymorphism is 1,11 (1,02-1,25), the summary OR for the C677T variant of 5,10-methylenetetrahydrofolate reductase (MTHFR) is 1,23 (0,61-1,47) and the pooled OR for the apolipoprotein E (APOE) gene is 0,95 (0,77-1,14) .

CONCLUSION

These data suggest the genetic associations of some genes with ischemic stroke and it is necessary to compete with other genes. Our findings could represent an epidemiological base and a useful tool to address further molecular investigations and to realize more detailed meta-analyses.

摘要

背景

缺血性卒中具有遗传基础。卒中是一种复杂性状,被认为是多基因的。关于这一主题,已通过关联研究在卒中中调查了大量候选基因的作用。

材料与方法

我们对多个群体中关于卒中的遗传关联研究进行了基于文献的系统综述。确定了每个基因与疾病关联的比值比(OR)和95%置信区间(CI)。在对300篇手稿进行综述后,在152797名个体(45433例病例和107364名对照)中分析了5个候选基因变体。

结果

对于所研究的这5个候选基因,凝血酶原的OR为1.57(1.23 - 2.89),因子V Leiden的OR为1.43(0.67 - 6.24),血管紧张素I转换酶(ACE)插入/缺失(I/D)多态性的平均OR为1.11(1.02 - 1.25),5,10 - 亚甲基四氢叶酸还原酶(MTHFR)的C677T变体的汇总OR为1.23(0.61 - 1.47),载脂蛋白E(APOE)基因的合并OR为0.95(0.77 - 1.14)。

结论

这些数据表明某些基因与缺血性卒中有遗传关联,并且有必要与其他基因进行比较。我们的发现可为进一步的分子研究和更详细的荟萃分析提供流行病学基础和有用工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4222/3276992/6a8ea8c5239d/IJHG-17-212-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4222/3276992/6a8ea8c5239d/IJHG-17-212-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4222/3276992/6a8ea8c5239d/IJHG-17-212-g006.jpg

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