ACE及CYP11B2基因多态性和高血压合并左心室肥厚的相关性分析.docVIP

ACE、CYP11B2基因多态性与原发性高血压合并左心室肥厚的相关性分析 周春刚 张志斌 夏成霞 李萍 陆曙＊ 无锡市中医院 214001 江苏 摘要：〔目的〕探讨 ACE(I/D)、CYP11B2（C-344T）基因多态性与原发性高血压（EH）合并左心室肥厚（LVH）的相关性。〔方法〕用多聚酶链聚合反应（PCR）和限制性内切酶片段长度多态性法（RFLP）检测ACE(I/D) 和CYP11B2（C-344T）基因多态性，相关分析采用卡方（χ2）和优势比（OR）检验。〔结果〕EH组和对照组基因型频率和等位基因频率均符合Hardy-Weinberg平衡定律。 ACE(I/D) DD+ID基因型EH合并LVH风险高于II型（OR=2.33； P＜0.01），EH患者携带D等位基因并发LVH风险高于携带I等位基因患者（OR=1.71； P＜0.05）。CYP11B2（C-344T）CC型EH患者合并LVH风险是TT+TC型的2.24倍， 但统计学无显著性相关（P＞0.05）。ACE(I/D)联合CYP11B2（C-344T）分析, EH患者DD型与TC+CC型组合合并LVH风险显著高于其它组合(OR=4.03；P=0.031)。〔结论〕ACE(I/D)D等位基因与EH合并LVH呈显著相关，D等位基因可能是EH合并LVH的危险因素， ACE(I/D) DD型联合CYP11B2（C-344T）TC+CC型与EH合并LVH显著相关，ACE(I/D) DD型同时携带CYP11B2（C-344T）C等位基因的EH患者易致LVH，ACE(I/D) 和CYP11B2（C-344T）基因多态性可能协同影响EH患者LVH的形成。 关键词：高血压 ACE CYP11B2 基因多态性 The association between the polymorphisms of ACE(I/D) or CYP11B2（C-344T）gene and Left ventricular hypertrophy(LVH) in Essential Hypertension Abstract: Objective To investigate the association between the polymorphisms of ACE(I/D) or CYP11B2 (C-344T)and Left ventricular hypertrophy(LVH) in Essential Hypertension Patients. Methods Polymerase chain reaction and polymerase chain reaction–restriction fragment length polymorphism were used for the detection of the presence of ACE(I/D) and CYP11B2(C-344T) in 182 essential hypertensive subjects and 60 normotensive subjects.The possible association between the polymorphisms of ACE(I/D) or CYP11B2(C-344T) and LVH was tested by χ2 and the odds ratio(OR) tests. Results The frequency of genotype and allele of ACE(I/D) and CYP11B2(C-344T) in all groups were in Hardy-Weinberg proportions. Hypertensive subjects with DD+ID genotype had a greater risk of LVH than those with II genotype（OR=2.33； P＜0.01），the risk of LVH in hypertensive subjects with the D allele is higher than that in hypertensive subjects with the I allele( OR=1.71； P＜0.05). While CYP11B2 CC genotype increased the risk of LVH in hypertension compared to the TC+TT genotypes, the χ2 test did not show any significant association( OR=2.24；P0