›› 2012, Vol. 7 ›› Issue (02): 86-90.

• 论著 • 上一篇    下一篇

染色体9p21上rs2383206单核苷酸多态性与中国汉族脑梗死的相关性分析

李淑娟1,张玉杰2,刘东涛1,陈冬辉2,王笑峰3,胡文立1   

  1. 1 北京首都医科大学附属北京朝阳医院神经内科2满洲里市第一医院神经内科3复旦大学生命科学学院遗传学研究所
  • 收稿日期:2011-10-22 修回日期:2011-09-22 出版日期:2012-02-20 发布日期:2012-02-20
  • 通讯作者: 胡文立

Association of rs2383206 Single Nucleotide Polymorphism on Chromosome 9p21 and Cerebral Infarction in Chinese Han

LI Shu-Juan, ZHANG Yu-Jie, LIU Dong-Tao, et al   

  • Received:2011-10-22 Revised:2011-09-22 Online:2012-02-20 Published:2012-02-20

摘要: 目的 探讨染色体9p21上rs2383206单核苷酸多态性(single nucleotide polymorphism,SNP)与中国汉族人群脑梗死患病的相关性。方法 选取355例初发脑梗死(cerebral infarction,CI)的汉族患者及430例同期住院的外科患者作为对照。采用PCR-SNP Stream技术对rs2383206位点进行多态性分型,并对分型结果进行统计学分析。结果 在脑梗死组,rs2383206位点的AG基因型分布频率高于对照组(P=0.007),G等位基因分布频率也高于对照组,但无统计学差异。经校正混杂因素的影响后,与AA纯合子相比rs2383206的GG/GA基因型具有显著增加脑梗死风险的效应[校正比值比(odds ratio,OR)1.23,95%可信区间(confidence interval,CI)1.11~2.05,P=0.009]。结论 rs2383206是中国汉族人脑梗死发生的易感位点。

关键词: 遗传; 多态性; 单核苷酸; 脑梗死

Abstract: Objective To investigate the association of rs2383206 single nucleotide polymorphism(SNP) on chromosome 9p21 and cerebral infarction in northern Chinese Han population.Methods Three hundred and fifty-five cases of patients with early cerebral infarction(CI group) and 430 cases of surgical patients hospitalized over the same period as controls. PCR-SNP Stream technology was used to genotype rs2383206 polymorphism, and genotyping results were statistically analyzed.Results The frequency of genotype AG of rs2383206 was increased in CI group, compared with control group, P=0.007). G allele frequency of rs2383206 was also higher in CI group than control group. After adjusting for confounding factors, we found that, compared with AA homozygotes of the rs2383206, GG/GA genotype has significant effect to increase the risk of cerebral infarction(adjusted OR 1.23, 95%CI 1.11-2.05, P=0.009). rs2383206 G-allele increased the risk of large artery atherosclerotic stroke by 2.09 times.Conclusion Rs2383206 is the susceptible locus to CI in Chinese Hans.

Key words: Genetics; Polymorphism; single nucleotide; Infarction