心房利尿钠肽基因多态性与冠心病关系的研究

[目的 ]探讨汉族人群心房利尿钠肽 (atrialnatriureticpeptide ,ANP)T2 2 3 8C基因多态性、血浆中的一氧化氮(nitricoxide ,NO)浓度、一氧化氮合酶 (nitricoxidesynthase ,NOS)活性与冠心病发病的关系。 [方法 ]采用病例 对照研究 ,应用聚合酶链 限制性片段长度多态性 (Polymerasechainrestrictionfragmentlengthpolymorphism ,PCR RFLP)方法检测 12 0例冠心病患者 (包括心绞痛与心肌梗死 )和 13 0名非冠心病对照人群ANPT2 2 3 8C基因多态性 ,应用试剂盒测定血浆中NO含量和NOS的活性。 [结果 ]总研究人群中ANPT2 2 3 8C基因多态性的A1和A2两种等位基因分布频率为 2 5 .46%和74.5 4% ,冠心病组A2A2基因型频率显著高于对照组 ;冠心病患者血浆NO和NOS水平均明显高于对照组 (P <0 .0 1)。在所研究的人群中 ,ANPT2 2 3 8C基因型的分布与血浆NO浓度及NOS活性无相关性。Logistic分析结果提示 ,性别、体重指数 (BMI)、高血压病史、糖尿病史、吸烟史、血浆总胆固醇、NO浓度、NOS活性 ,A2A2ANPT2 2 3 8C基因型为冠心病的独立危险因素。 [结论 ]ANPT2 2 3 8C基因多态性与冠心病发病显著相关 (P <0 .0 5 ) ,将成为冠心病的一种遗传易感性标志物 ,血浆NO和NOS水平与冠心病有密切的关系

Association of Atrial Natriuretic Peptide Gene Polymorphism,Nitric Oxide & Nitric Oxide Synthase with Coronary Heart Disease

To explore the atrial natriuretic peptide(ANP) T2238C gene polymorphism in Chinese and to ascertain the relationship between the polymorphism of ANP T2238C,NO,NOS and coronary heart disease(CHD). 120 patients with CHD and 130 controls were genotyped for the ANP T2238C polymorphism by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)analysis,the concentrations of the nitric oxide(NO) and the activities of nitric oxide synthase(NOS) in plasma were measured with corresponding test kits. Allele frequencies of A1 and A2 were 25.46% and 74.54% in the investigated population,respectively.And the distribution of A2A2 genotype in CHD group was significantly higher than that in control group(P<0.05),and the levels or activities of NO and NOS in CHD group were significantly higher than those in control group(P<0.01). The ANP T2238C genotype distribution did not associated with the plasma levels or activities of NO and NOS(P>0.05). [Conclusion] The results suggest that the ANP T2238C polymorphism may be associated with the CHD and there is a stronger statistical correlation between CHD and the levels or activities of NO and NOS.