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目的探索汉族人群去甲肾上腺转运蛋白(norepinephrine transporter,NET)基因(SLC6A2)启动子3、2多态性与高血压病(essential hypertension,EH)合并心力衰竭(heart failure,HF)的关系。方法按年龄、性别和居住地配对原则收集3组受试者:对照组(n=176,健康体检者),EH组(n=176,心功能正常的EH患者)和EH-HF组(n=176,EH合并NYHAⅢ～Ⅳ级心功能患者),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和启动子2多态性。结果EH-HF组SLC6A2启动子3AG/GG基因型分布频率(41.48%)高于EH组(26.70%)和对照组(22.16%),3组SLC6A2启动子2GG、GC和CC基因型分布差异无统计学意义。以EH组为参照系,调整混杂因素后,SLC6A2启动子3AG/GG基因型发生心衰的OR值为1.905(95%CI:1.138～3.188,P=0.014);以SLC6A2启动子3A-G/启动子2单倍体为参比基线,单因素分析SLC6A2启动子3G-C/启动子2单倍体发生心衰的OR值为2.744(95%CI:1.390～5.417,P=0.004),而且携带SLC6A2启动子3AG/GG基因型的EH-HF患者血浆脑钠肽水平明显高于AA基因型患者(P<0.001)。结论携带SLC6A2启动子3G等位基因及启动子3G-C/启动子2单倍体型患者与EH-HF有关,可能是EH-HF分子遗传学基础之一。
Objective To explore the relationship between the polymorphism of the promoter 3,2 of the norepinephrine transporter (NET) gene (SLC6A2) and essential hypertension (EH) in patients with heart failure (HF). Methods Three groups of subjects were collected according to the principle of age, sex and place of residence: control group (n = 176, healthy subjects), EH group (n = 176, EH patients with normal cardiac function) and EH-HF group = 176, EH patients with NYHA class Ⅲ ~ Ⅳ cardiac function), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect SLC6A2 promoter 3 and promoter 2 polymorphisms. Results The frequencies of 3AG / GG genotypes in SLC6A2 promoter in EH-HF group were higher than that in EH-HF group (41.48% vs. 26.70%) and control group (22.16% Statistical significance. Using EH group as the reference system, OR of SLC6A2 promoter 3AG / GG genotype was 1.905 (95% CI: 1.138-3.188, P = 0.014) after adjusting for confounding factors. The SLC6A2 promoter 3A-G / The haplotype of promoter 2 was the reference baseline. The odds ratio (OR) was 2.744 (95% CI: 1.390-5.417, P = 0.004) by univariate analysis of haplotypes in the 3G-C / promoter 2 haplotype of SLC6A2 promoter and Plasma brain natriuretic peptide levels in EH-HF patients with SAG6A2 promoter 3AG / GG genotype were significantly higher than those with AA genotype (P <0.001). Conclusions The haplotype of 3G-C / promoter 2 haplotypes carrying SLC6A2 promoter 3 G allele and EH-HF promoter may be one of the molecular basis of EH-HF molecular genetics.