NINJ2 polymorphism is associated with ischemic stroke in Chinese Han population
NINJ2 polymorphism is associated with ischemic stroke in Chinese Han population
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NINJ2多态性与中国汉族人群缺血性脑卒中相关
DOI：
10.1016/j.jns.2011.06.011
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发表时间：
2011-09-15
影响因子：
4.4
通讯作者：
Wang, Xiao-feng
中科院分区：
文献类型：
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作者：
Wan, Xin-hong;Li, Shu-juan;Wang, Xiao-feng
最近，一项全基因组关联研究报告了NINJ2基因附近的两个单核苷酸多态性（SNP）rs11833579和rs12425791与高加索人缺血性脑卒中之间的关联。因此，NINJ2基因是缺血性脑卒中发病的重要候选基因。我们在中国汉族人群中进行了一项基于医院的遗传关联研究，以探讨NINJ2基因与缺血性脑卒中的关系。我们对749名缺血性卒中患者和924名对照者的14个标记单核苷酸多态性（tSNP）进行了基因分型，并进行了这些tSNP与缺血性卒中之间的关联。我们在NINJ2基因的第一个内含子中检测到一个tSNP rs10849373，与缺血性卒中显著相关（基因型和等位基因p = 0.0001）。在单变量分析中，小A等位基因增加了缺血性卒中的风险，加性遗传模型的每等位基因OR为1.37（p = 0.0001）。在对年龄、性别、BMI、吸烟、饮酒、高血压和糖尿病等协变量进行校正后，仍具有显著性。因此，我们报告了一个新的遗传变异，rs10849373，位于第一内含子的NINJ2基因，赋予缺血性中风的风险在中国汉族人。需要进一步的遗传关联和功能研究来寻找与该多态性连锁不平衡的因果功能变体。(C)2011 Elsevier B.V.保留所有权利。
Recently, a genome-wide association study reported an association between two single nucleotide polymorphisms (SNPs) rs11833579 and rs12425791 near NINJ2 gene and ischemic stroke in Caucasians. Therefore, NINJ2 gene is an important candidate locus in the prevalence of ischemic stroke. We performed a hospital based genetic association study in Chinese Han subjects to investigate the relationship between NINJ2 gene and ischemic stroke. We genotyped 14 tagging single nucleotide polymorphisms (tSNP) in 749 ischemic stroke subjects and 924 control subjects and conducted the association between these tSNPs and ischemic stroke. We detected a tSNP rs10849373 in the first intron of the NINJ2 gene significantly associated with ischemic stroke (both genotype and allelic p = 0.0001). The minor A allele increased the risk of ischemic stroke with a per-allele OR of 1.37 for the additive genetic model in univariate analysis (p = 0.0001). The significance remained after adjustment for the covariates of age, gender, BMI, cigarette smoking, alcohol drinking, hypertension, and diabetes. Therefore, we report a new genetic variant, rs10849373, located in the first intron of the NINJ2 gene, conferring risk of ischemic stroke in Chinese Han subjects. Further genetic association and functional studies are required to search the causal functional variant in linkage disequilibrium with this polymorphism. (C) 2011 Elsevier B.V. All rights reserved.