《中国康复理论与实践》

《中国康复理论与实践》 ›› 2015, Vol. 21 ›› Issue (03): 315-319.

• 临床研究 • 上一篇    下一篇

NINJ2 基因5'上游单核苷酸多态性与脑梗死的相关性

赖丽琼1，冼文川2，陈煜森2
   

  1. 1.湖南师范大学附属湘东医院神经内科，湖南醴陵市412200；2. 广东医学院附属医院神经内科，广东湛江市524001。
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-03-25 发布日期:2015-03-25

Association of NINJ2 Gene 5' Upstream Single-nucleotide Polymorphisms with Cerebral Infarction

LAI Li-qiong1, XIAN Wen-chuan2, CHEN Yu-sen2
   

  1. 1. Department of Neurology, Xiangdong Hospital, Hunan Normal University, Liling, Hunan 412200, China; 2. Department of Neurology, Affiliated Hospital of Guangdong Medical College, Zhanjiang, Guangdong 524001, China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-03-25 Online:2015-03-25

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摘要： 目的分析粤西地区汉族人群NINJ2 基因5'上游rs11833579G/A、rs4980959C/A 单核苷酸多态性(SNPs)与脑梗死及亚型的关联性。方法采用联合聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和直接测序方法，对278 例脑梗死患者(病例组)和120 例正常人(对照组)进行rs11833579G/A 和rs4980959C/A 多态位点基因型检测并进行关联分析。结果病例组rs11833579G/A 与rs4980959C/A基因型频率和等位基因频率与对照组相比无显著性差异(P>0.05)。小动脉闭塞型卒中rs4980959C/A位点AA基因型频率高于对照组(18.3% vs 9.2%, P=0.041)，A等位基因频率高于对照组(35.4% vs 46.1%, P=0.019)。多元Logistic 回归分析结果显示，rs4980959C/A 位点含AA基因型发生小动脉闭塞型脑梗死的可能性高于G等位基因携带者(OR=4.012, 95%CI: 1.209~14.939，P=0.027)。结论NINJ2 基因5'上游非编码区SNPrs11833579G/A多态性与缺血性脑卒中无关；SNPrs4980959C/A的A等位基因是小动脉闭塞型脑梗死的危险因素；AA基因型是小动脉闭塞型的易感基因型。

关键词: NINJ2基因, 脑梗死, 单核苷酸多态性

Abstract: Objective To investigate the relationship between cerebral infarction (CI) and the single-nucleotide polymorphisms (SNPs) of rs11833579G/A and rs4980959C/A of NINJ2 gene in Han population of the Western Guangdong province in China. Methods Genotype and allele frequency of rs11833579G/A and rs4980959C/A were analyzed in 278 cerebral infarction patients and 120 healthy controls. Results There was insignificant difference in frequencies of genotypes and allele in two polymorphisms (rs11833579 G/A and rs4980959C/A) of NINJ2 gene between CI and control groups (P>0.05). AA genotype frequency of rs4980959C/A was more in patients with small-artery occlusion (SAA) than in the control group (18.3% vs 9.2%, P=0.041), while the A allele frequency was more in the patients with SAA than in the control group (35.4% vs 46.1%, P=0.019). Logistic regression analysis indicated that AA genotypes of rs4980959C/A was a risk factor for SAA over G allele carriers (OR=4.012, 95%CI: 1.209~14.939, P=0.027). Conclusion NINJ2 gene 5' upstream untranslated region SNPrs11833579G/ A polymorphism does not associate with the risk of ischemic stroke. NINJ2 gene 5' upstream untranslated region SNPrs4980959C/ AA allele is a risk factor for SAA, AA genotype is a susceptible genotype for SAA.

Key words: NINJ2 gene, cerebral infarction, single-nucleotide polymorphisms