CAJ | 학술논문

目的：对神经损伤诱导蛋白2(nerve injury induced protein 2, 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2 SNP 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。
목적：대신경손상유도단백2(nerve injury induced protein 2, NINJ2)기인다태성여대동맥죽양경화형뇌경사(artery atherosclerotic cerebral infarction, LAA)적상관성진행연구,위기림상연구제공의거。방법선택128례아원진단위 LAA 적환자작위병례조,동기수궤추취112례건강체검대상작위대조조,근거기왕연구적양성결과급 HapMap 수거고,선택 NINJ2기인 rs11833579급 rs108493732개단핵감산다태성(SNP)위점。채용 PCR-RFLP 기술진행2개 SNP 기인분형,분석2 SNP 위점다태성여 LAA 적상관성。결과병례조﹑대조조기인형급등위기인빈솔분포균부합 Hardy-Weinberg 평형검험( P ﹥0.05)。량조간rs11833579여 rs10849373기인형(P ＝0.512﹑0.514)﹑등위기인빈솔(P ＝0.811﹑0.713)급현성모형(P＝0.544﹑0.656)비교균무통계학의의(P ﹥0.05)；단량조간 rs11833579위점은성모형(AA + AG)비교차이유통계학의의(P ＝0.033)。 NINJ2기인 rs11833579적 GA + AA 기인형재후순배동맥죽양경화중적빈솔고우기타기인형,차이구유통계학의의(P ﹤0.05)。결론 NINJ2기인 rs11833579위점은성모형(AA +AG)여 LAA 적발생존재밀절상관성。단잉수대단체형급역감기인화배경인소적교호작용진행연구,이진일보분석 NINJ2기인여 LAA 적상관성。
Objective To examine the association of ninjurin-2 (NINJ2) gene polymorphisms with large artery atherosclerotic ischemic 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 112 subjects who underwent a routine healthy physical check up and had a normal result served as con-trols. Two single nucleotide polymorphism ( SNP ) sites of NINJ2 gene, rs11833579 and rs10849373, were selected based on previous positive results and HapMap database. SNP genoty-ping 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 exam-ined. 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 signifi-cant (P ﹤ 0. 05) . Conclusion The recessive model (AA + AG) of rs11833579 is closely associat-ed with the development of LAA. The interaction of haplotypes and susceptibility genes with environ-ment factors warrants investigations in order to further elucidate the association of NINJ2 gene with LAA.