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  

Relationship between ApoB gene polymorphism and stroke in Beijing Fangshan District

作　　者：陈廓[1] 肖占森[2] 窦会东[2] 侯淑琴[2] 刘岳峰[2] 陶晓明[1] 李峰[1] 邱长春[1] 

机构地区：[1]中国医学科学院基础医学研究所北京协和医学院基础学院医学分子生物学国家重点实验室,北京100005 [2]北京房山区第一医院检验科,北京102400

出　　处：《基础医学与临床》2010年第7期683-688,共6页Basic and Clinical Medicine

基　　金：北京市自然科学基金重点项目(7001004);美国中华医学基金(CMB:96-657);"十一五"科技支持计划(2006BAI190B)

摘　　要：目的探讨ApoB基因多态性与北京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9 bp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低(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位点多态性与房山地区汉族人群女性脑卒中相关,5′端信号肽区9 bp插入/缺失多态性与房山地区汉族人群中脑卒中易感相关。Objective To investigate the relationship between polymorphism of ApoB gene and stroke in Beijing Fanshan District.MethodsThis is 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 81 cerebral homorrhase patients 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（P0.01）,and allele C frequency was significantly lower in ischemic stroke patients than that in controls（P0.01）.But significant difference was not found in males.The frequency of genotype Ⅱ at 5′I/D locus in males was significantly lower in cerebral hemorrhage patients than that in healthy controls（P0.01）.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（P0.01）.The frequency of genotype Ⅱ and the allele Ⅰ at 5′I/D locus in females was also significantly lower in ischemic stroke patients than that in healthy controls（P0.01 and P0.05,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.

关 键 词：APOB基因 脑卒中 脑出血 脑栓塞 多态性 

分 类 号：R743.3[医药卫生—神经病学与精神病学]