内皮细胞型一氧化氮合酶基因多态性与高血压病的相关性研究  

The polymorphism of a variable number of tandem repeats in the endothelial nitric oxide synthase gene is associated with essential hypertension in Chinese population

作　　者：路萍[1] 吕星[1] 邢瑞云[1] 周绪斌[1] 郑晓飞[1] 韩莉[2] 汪毅荣[2] 孙琪云[2] 

机构地区：[1]军事医学科学院放射医学研究所,北京100850 [2]军事医学科学院附属307医院

出　　处：《中华心血管病杂志》2002年第2期71-73,共3页Chinese Journal of Cardiology

基　　金：国家"973"重点基础研究发展规划项目(G2 0 0 0 0 570 0 1)

摘　　要：目的　探讨内皮细胞型一氧化氮合酶 (endothelialnitricoxidesynthase ,eNOS)基因第 4内含子数目可变性串联重复序列 (variablenumberoftandemrepeatspolymorphism ,VNTR)多态性与高血压病(essentialhypertension,EH)的相关性。方法　依据VNTR位点侧翼序列设计引物 ,PCR方法分别自血压正常 (normotension ,NT)和EH人群基因组DNA扩增VNTR片段 ,琼脂糖凝胶电泳分析VNTR基因型 ,对两组VNTR的基因型与等位基因频率进行统计对比。结果　NT和EH人群eNOS基因VNTR均存在重复 4次、5次和 6次 3种等位基因 ,以及 4/4纯合、4/5杂合、5/5纯合和 5/6杂合 4种VNTR基因型 ,但等位基因与基因型的分布频率存在差异。EH人群重复 4次的等位基因频率 (χ2 =30 80 ,P <0 0 0 0 1 ) ,4/5杂合 (χ2 =2 1 45 ,P <0 0 0 0 1 )和 4/4纯合 (χ2 =4 0 6 ,P <0 0 5)的基因型频率明显高于NT人群。结论　eNOS基因VNTR重复 4次的等位基因与EH相关 ,携带重复 4次等位基因的人具有罹患EH的一定危险性 (χ2 =33 96 ,P <0 0 0 0 1 ,OR =3 2 ,95 %可信区间为 2 0 97～ 4 495)。Objective To investigate the association of a variable number of tandem repeats (VNTR) polymorphism in intron 4 of the endothelial nitric oxide synthase (eNOS) gene with essential hypertension (EH) in Chinese population Methods By using the designed primers based on flanking sequences of VNTR locus, VNTR fragments were amplified by PCR from genomic DNA of normotension (NT) and EH subjects, respectively PCR products were separated through agarose gel electrophoresis for VNTR genotyping The significance of difference in the genotype and allele frequencies between NT and EH groups were assessed by statistical analysis Results Three alleles, containing 4,5 and 6 repeats, and four genotypes, namely 4/4 homozygous, 4/5 heterozygous, 5/5 homozygous and 5/6 heterozygous, were identified in both NT and EH groups The overall distributions of either allele or genotype frequencies differed significantly between the two groups, the genotypes of the 4 repeats allele(χ 2=30 80, P <0 000 1), 4/5 heterozygous (χ 2=21 45, P <0 000 1) and 4/4 homozygous (χ 2=21 45, P < 0 000 1) were more frequent in the EH group than in NT group Conclusion The 4 repeats allele in eNOS gene is associated with EH and might be a risk factor of EH for the persons carrying it (χ 2=33 96, P <0 001, OR =3 2, 95%CI 2 097 4 495)

关 键 词：一氧化氮合酶 高血压 内皮细胞型一氧化氮合酶 基因多态性 相关性 

分 类 号：R544.1[医药卫生—心血管疾病]