高血压病并心力衰竭与ACE基因、SLC6A2基因多态性的关联研究

目的：探讨去甲肾上腺素转运基因[溶质载体家族6,成员2（SLC6A2）]启动子3、血管紧张素转换酶（ACE）基因多态性与高血压病合并心力衰竭（EH＋HF）的相关性。方法：收集176例心功能Ⅲ－Ⅳ级的EH＋HF汉族患者,及与之按性别、年龄±4、居住地相匹配的心功能Ⅰ－Ⅱ级的高血压病患者（EH组）及健康体检者（正常对照组）各176例,应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测SLC6A2启动子3的A/G多态性及血管紧张素转换酶[ACE（I/D）]多态性基因型。结果：卡方分割显示EH＋HF组SLC6A2-P3-AG/GG基因型频率（41.48%）显著高于EH组（26.70%）和正常对照组（22.16%）,x2=7.937,P=0.005;EH＋HF组ACE-DD基因型频率（26.14%）显著高于EH组（12.50%）和正常对照组（10.80%）,x2=17.897,P〈0.001。Logistic回归以EH组为参照系,调整混杂因素后,SLC6A2-AG/GG,ACE-DD型,DD＋AG/GG的OR值分别为1.905（95%CI：1.138－3.188,P=0.014）,1.908（95%CI：1.009－3.609,P=0.047）,3.356（95%CI：1.188－9.475,P=0.022）。结论：携带有ACE-DD型、SLC6A2-AG/GG型可能是高血压病合并心力衰竭独立危险因素,DD＋AG/GG的危险性和预测作用最大。

Relationship between polymorphisms of ACE,SLC6A2 genes and essential hypertension complicated with heart failure

Objective：To investigate the association between polymorphisms of the norepinephrine transporter gene（solute,carrier family 6,member 2,SLC6A2） promoter 3（SLC6A2-P3） angiotensin converting enzyme（ACE） gene and essential hypertension accompanied with heart failure（EH＋HF）.Methods：A total of 176 Han nationality patients with EH＋HF and cardiac function class Ⅲ~Ⅳ were collected.Meanwhile,176 patients with essential hypertension（EH）and cardiac function class Ⅰ~Ⅱ（EH group） and 176 healthy controls（normal control group） were enrolled in the study and all of them possessed corresponding gender,age±4 and residence with those with EH＋HF.Polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） was used to measure A/G polymorphism of SLC6A2 promoter 3 and genotype of ACE（I/D）.Results：The x2 Partiting test indicated that genotype frequency of SLC6A2-P3-AG/GG in EH＋HF group（41.48%） was higher than those in EH group（26.70%） and normal control group（22.16%）,x2=7.937,P=0.005;that genotype frequency of ACE-DD in EH＋HF group（26.14%） was higher than those in EH group（12.50%） and normal control group（10.80%）,x2=17.897,P0.001.Logistic regression analysis show,that OR values of SLC6A2-AG/GG,ACE-DD and DD＋AG/GG were 1.905（95%CI：1.138-3.188,P=0.014）,1.908（95%CI：1.009-3.609,P=0.047）,3.356（95%CI：1.188-9.475,P=0.022） respectively after regulation of mixed factors.Conclusion：Genotypes of SLC6A2-AG/GG and ACE-DD may be an independent risk factor of essential hypertension accompanied with heart failure,risk and predictive value of DD＋ AG/GG are maximum.