12号染色体p13区域变异对缺血性中风风险的影响。
Impact of chromosome 12p13 variants on ischemic stroke risk.
作者信息
Zhang Zhizhong, Xu Gelin, Wei Yongyue, Zhu Wusheng, Fan Xiaobing, Liu Xinfeng
机构信息
a 1 Department of Neurology, Jinling Hospital , Medical School of Nanjing University , Nanjing , Jiangsu Province , China.
b 2 Department of Environmental Health, Harvard School of Public Health , Harvard University , Boston , MA , USA.
出版信息
Int J Neurosci. 2016 Sep;126(9):856-62. doi: 10.3109/00207454.2015.1079710. Epub 2015 Aug 24.
BACKGROUND
In 2009, a genome-wide association study (GWAS) identified two variants (rs12425791 and rs11833579) near NINJ2 gene that confer susceptibility to stroke in Caucasian populations. Recently, a number of studies have been conducted to replicate this finding in Asian populations. However, the results are conflicting. Thus, we performed a quantitative analysis to summarize the evidence regarding the association between these two polymorphisms and ischemic stroke risk.
METHODS
Pertinent studies were identified by searching PubMed and Embase through September 2014. Studies that reported odds ratio (OR) with 95% confidence interval (CI) for the association between these two polymorphisms and stroke risk were included.
RESULTS
Eight independent publications, with 8626 cases and 8046 controls for rs12425791 and 9142 cases and 8657 controls for rs11833579, were included. Overall, significantly increased ischemic stroke risk was associated with rs12425791 A allele when all studies were pooled into the meta-analysis (AA/GA vs. GG: OR = 1.08, 95% CI: 1.01-1.14). However, rs11833579 was not associated with increased stroke risk in any genetic model.
CONCLUSIONS
These findings indicate that rs12425791 G>A polymorphism may be a low-penetrance susceptibility marker of stroke in Asian populations and further studies are warranted to verify this association.
背景
2009年，一项全基因组关联研究（GWAS）在NINJ2基因附近鉴定出两个变异体（rs12425791和rs11833579），它们使白种人群易患中风。最近，已经进行了多项研究以在亚洲人群中重复这一发现。然而，结果相互矛盾。因此，我们进行了一项定量分析，以总结关于这两种多态性与缺血性中风风险之间关联的证据。
方法
通过检索截至2014年9月的PubMed和Embase来确定相关研究。纳入那些报告了这两种多态性与中风风险之间关联的比值比（OR）及95%置信区间（CI）的研究。
结果
纳入了8篇独立出版物，其中rs12425791有8626例病例和8046例对照，rs11833579有9142例病例和8657例对照。总体而言，当所有研究汇总到荟萃分析中时，rs12425791的A等位基因与缺血性中风风险显著增加相关（AA/GA与GG相比：OR = 1.08，95% CI：1.01 - 1.14）。然而，在任何遗传模型中，rs11833579与中风风险增加均无关联。
结论
这些发现表明，rs12425791 G>A多态性可能是亚洲人群中风的低外显率易感性标志物，需要进一步研究来验证这种关联。
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