基础医学与临床 ›› 2010, Vol. 30 ›› Issue (7): 683-688.

• 研究论文 • 上一篇    下一篇

ApoB基因多态性与北京房山地区汉族人群脑卒中相关性分析

陈廓 肖占森 窦会东 侯淑琴 刘岳峰 陶晓明 李峰 邱长春   

  1. 中国医学科学院基础医学研究所 中国医学科学院 基础医学研究所 中国医学科学院基础医学研究所
  • 收稿日期:2010-01-20 修回日期:2010-03-23 出版日期:2010-07-05 发布日期:2010-07-05
  • 通讯作者: 邱长春

Relationship between the APOB gene polymorphism and stroke in China Fanshan district

Kuo CHEN, Zhan-sen XIAO, Hui-dong DOU, Shu-qin HOU, Yue-feng LIU, Xiao-ming TAO, Feng LI, Chang-chun QIU   

  1. Institute of Basic Medical Sciences, CAMS and PUMC Institute of Basic Medical Sciences, CAMS and PUMC IBMS, CAMS & PUMC
  • Received:2010-01-20 Revised:2010-03-23 Online:2010-07-05 Published:2010-07-05
  • Contact: Chang-chun QIU

摘要: 目的 探讨ApoB基因多态性与房山地区汉族人群脑卒中的关系。方法 采取横断面病例-对照相关分析方法。用多聚酶链式反应-限制性片段长度多态性(PCR-RFLP) 及直接测序技术检测ApoB基因第26外显子C7673T位点和第1外显子5′端信号肽区9bp插入/缺失的基因型。汉族脑卒中患者547例(脑栓塞446例,脑出血81例);正常对照者886例。结果 ApoB基因C7673T位点和5′端信号肽区插入/缺失位点基因型均符合Hardy-Weinberg 平衡定律, p值分别为0.6293和0.5359。ApoB基因C7673T位点的CC基因型和C等位基因频率在女性中栓塞组较对照组明显降(p<0.01),而与男性脑卒中无关。5′端信号肽区插入/缺失位点,II基因型频率在男性中脑出血组较对照组明显降低(p<0.01)。II基因型和I等位基因频率在男性中栓塞组较对照组明显降低(p<0.01);II基因型和I等位基因频率在女性中也有同样的趋势(p<0.01,p<0.05)。结论 ApoB基因C7673T位点多态性与汉族人群女性脑卒中相关,5′端信号肽区9bp插入/缺失多态性与汉族人群中脑卒中易感相关。

关键词: ApoB基因, 脑卒中, 脑出血, 脑栓塞, 多态性

Abstract: Objective To investigate the relationship between polymorphism of the APOB gene and stroke in Han Chinese population.Methods This study was a population-based cross-sectional case-control study. In APOB gene, the polymorphisms of C7673T and 5′I/D were determined by Polymerase Chain Restriction-Restriction Fragment Length Polymorphism (PCR-RFLP) and sequencing in 547 patients with ischemie stroke (466 ischemie stroke) and 886 controls. Results The distributions of C7673T (p=0.6293) and 5′I/D (p=0.5359) genotype frequencies in men and women were in accordance with the Hardy-Weinberg equilibrium. In C7673T locus, the genotype CC frequency in females was significant lower in ischemic stroke than that in healthy controls (p<0.01), and allele C frequency was significant lower in ischemic stroke than that in healthy controls (p<0.01). But significant differences were not found in males. The frequency of genotype II at 5′I/D locus in males was significant lower in cerebral hemorrhage patients than that in healthy controls (p<0.01). The frequency of genotype II and the allele I at 5′I/D locus in males was significant lower in ischemic stroke patients than that in healthy controls(p<0.01). The frequency of genotype II and the allele I at 5′I/D locus in females was also significant lower in ischemic stroke patients than that in healthy controls, (p<0.01,p<0.05,respectively)Conclusion The C7673T polymorphism of APOB gene associates with ischemic stroke in Fangshan district in female. The 5′I/D polymorphism of APOB gene associates with ischemic stroke in Fangshan district in male and female.

Key words: ApoB gene, stroke, cerebral hemorrhage, ischemic stroke, polymorphism