NINJ2基因多态性与大动脉粥样硬化型脑梗死的关系

Association of Ninjurin-2 Gene Polymorphisms with Large Artery Atherosclerotic Ischemic Stroke

目的对神经损伤诱导蛋白2（nerve injury induced protein2，NINJ2）基因多态性与大动脉粥样硬化型脑梗死（artery atherosclerotic cerebral infarction，LAA）的相关性进行研究，为其临床研究提供依据。方法选择128例我院诊断为LAA的患者作为病例组，同期随机抽取112例健康体检对象作为对照组．根据既往研究的阳性结果及HapMap数据库，选择NINJ2基因rs11833579及rs108493732个单核苷酸多态性（SNP）位点。采用PCR-RFLP技术进行2个SNP基因分型，分析2SNP位点多态性与LAA的相关性。结果病例组、对照组基因型及等位基因频率分布均符合Hardy-Weinberg平衡检验（P〉0．05）。两组间rs11833579与rs10849373基因型（P=0．512、0．514）、等位基因频率（P=0．811、0．713）及显性模型（P=0．544、0．656）比较均无统计学意义（P〉0．05）；但两组间rs11833579位点隐性模型（AA＋AG）比较差异有统计学意义（P=0．033）。NINJ2基因rs11833579的GA＋AA基因型在后循环动脉粥样硬化中的频率高于其他基因型，差异具有统计学意义（P〈0．05）。结论NINJ2基因rs11833579位点隐性模型（AA＋AG）与LAA的发生存在密切相关性。但仍需对单体型及易感基因和环境因素的交互作用进行研究，以进一步分析NINJ2基因与LAA的相关性。

Objective To examine the association of ninjurin-2 （NINJ2） gene polymorphisms with large artery atherosclerotic ischemie stroke （LAA） . Methods One hundred and twenty-eight patients who were diagnosed as having LAA in our hospital were allocated to the case group and subjects who underwent a routine healthy physical check up and had a normal result served as controls. Two single nucleotide polymorphism （SNP） sites of NINJ2 gene, rs11833579 and rs10849373, were selected based on previous positive results and HapMap database. SNP genotyping was performed by using polymerase chain reaction-restrictive fragment length polymorphism （PCR-RFLP） and the association of the gene polymorphisms of the 2 SNP sites with LAA was examined. Results The distribution of the genotype and the allele frequency in the case and control group conformed to the Hardy-Weinberg equilibrium test （ P 〉 0. 05 ） . There were no significant differences in the genotype （P =0. 512, 0. 514）, allele （P =0. 811, 0. 713）, additive model （P =0. 544, 0. 656） of rs11833579 and rs10849373 between the two groups （P 〉0. 05） . There was significant difference in the recessive model （AA ＋ AG） of rs11833579 between the two groups （P =0. 033） . The rate of GA ＋ AA genotype of rs11833579 in patients with posterior circulation of atherosclerosis was higher than that of other genotypes, with the difference being statistically significant （P 〈 0. 05 ） . Conclusion The recessive model （AA ＋ AG） of rs11833579 is closely associated with the development of LAA. The interaction of haplotypes and susceptibility genes with environment factors warrants investigations in order to further elucidate the association of NINJ2 gene with LAA.