BRCA-1 相关关联蛋白（BRAP）基因的功能性变异与缺血性卒中之间缺乏关联。

Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke.

机构信息

Section of Neurology, Taichung Veterans General Hospital, No. 160, Sec 3, Chung-Kang Rd, Taichung 40705, Taiwan.

出版信息

BMC Med Genet. 2013 Jan 28;14:17. doi: 10.1186/1471-2350-14-17.

DOI:10.1186/1471-2350-14-17

PMID:23356535

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3564782/

Abstract

BACKGROUND

Atherosclerosis shares common pathogenic features with myocardial infarction (MI) and ischemic stroke. BRCA-1 associated protein (BRAP), a newly identified risk gene for MI, aggravates the inflammatory response in atherosclerosis. The aim of this study was to test the association between the BRAP gene and stroke in a Taiwanese population.

METHODS

A total of 1,074 stroke patients and 1,936 controls were genotyped for the functional SNP rs11066001. In our previous studies, the rare allele of this SNP has been repeatedly shown to exert a recessive effect. Therefore, in the current study, we tested for the same recessive model. First, the genotype distributions between all the controls and all the stroke cases were compared. Then to reduce heterogeneity, we explored several population subsets by selecting young stroke subjects (using 45 years of age as the cutoff point), age- and sex-comparable controls, plaque-free controls, and stroke subtypes.

RESULTS

We did not find any significant association for the entire data set (OR = 0.94, p = 0.74) or for the subset analyses using age- and sex-comparable controls (p = 0.70) and plaque-free controls (p = 0.91). Analyses of the four stroke subtypes also failed to show any significant associations (p = 0.42 - 0.98). For both young and old subjects, the GG genotype of rs11066001 was similar in the stroke cases and unmatched controls (8.1% vs. 9.4% in young subjects and 8.0% vs. 7.8% in old subjects). Comparing stroke cases with plaque-free controls also failed to find any significant association.

CONCLUSIONS

The BRAP polymorphism may not play an important role in ischemic stroke in the studied population.

摘要

背景

动脉粥样硬化与心肌梗死（MI）和缺血性中风具有共同的致病特征。BRCA-1 相关蛋白（BRAP）是 MI 的新鉴定风险基因，可加重动脉粥样硬化中的炎症反应。本研究旨在检测 BRAP 基因与台湾人群中风之间的关联。

方法

共对 1074 名中风患者和 1936 名对照进行了功能性 SNP rs11066001 的基因分型。在我们之前的研究中，该 SNP 的罕见等位基因已反复显示出隐性作用。因此，在当前研究中，我们测试了相同的隐性模型。首先，比较了所有对照和所有中风病例的基因型分布。然后，为了减少异质性，我们通过选择年轻中风患者（以 45 岁为截止点）、年龄和性别相匹配的对照、无斑块对照和中风亚型，对几个人群亚组进行了探索。

结果

我们没有发现整个数据集的任何显著关联（OR = 0.94，p = 0.74），也没有发现使用年龄和性别相匹配的对照（p = 0.70）和无斑块对照（p = 0.91）的亚组分析存在任何显著关联。对四种中风亚型的分析也未能显示出任何显著关联（p = 0.42-0.98）。对于年轻和年老的受试者，rs11066001 的 GG 基因型在中风病例和未匹配的对照中相似（年轻受试者中为 8.1%比 9.4%，年老受试者中为 8.0%比 7.8%）。将中风病例与无斑块对照进行比较也未能发现任何显著关联。