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智利冠心病患者及对照人群中内皮型一氧化氮合酶G894T基因多态性

Endothelial nitric oxide synthase G894T gene polymorphism in Chilean subjects with coronary artery disease and controls.

作者信息

Jaramillo Priscilla C, Muñoz M Alvaro, Lanas M Cecilia, Lanas Z Fernando, Salazar Luis A

机构信息

Laboratorio de Biología Molecular and Farmacogenética, Departamento de Ciencias Básicas, Facultad de Medicina, Universidad de La Frontera, Av. Francisco Salazar 01145, Casilla 54-D, Temuco, Chile.

出版信息

Clin Chim Acta. 2006 Sep;371(1-2):102-6. doi: 10.1016/j.cca.2006.02.030. Epub 2006 Mar 2.

Abstract

BACKGROUND

Nitric oxide (NO) from the endothelium, produced by oxidation of l-arginine to L-citruline for the action at the endothelial nitric oxide synthase (eNOS), is considered an important atheroprotective factor. The Glu298Asp (G894T) polymorphic variant of the eNOS gene has been implicated in the development of coronary artery disease (CAD). We investigated the association between occurrence of CAD documented by angiography and the G894T polymorphism of the NOS3 gene in Chilean individuals.

METHODS

A total of 112 unrelated patients with diagnosis of CAD and 72 controls were included in this study. G894T gene polymorphism was analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).

RESULTS

The frequency of TT homozygous genotype for G894T polymorphism was 7% in CAD patients and 1% in the control group. However, the genotype distribution and allele frequencies were not significantly different between CAD and control subjects (P>0.05). Moreover, the odds ratio for CAD associated with the T variant failed to reach statistical significance (OR=1.5; 95% CI: 0.87-2.59, P>0.05).

CONCLUSION

These findings suggest that the G894T polymorphism of the eNOS gene was not associated with CAD in Chilean individuals.

摘要

背景

内皮细胞产生的一氧化氮(NO),由L-精氨酸氧化为L-瓜氨酸以在内皮型一氧化氮合酶(eNOS)发挥作用,被认为是一种重要的抗动脉粥样硬化保护因子。eNOS基因的Glu298Asp(G894T)多态性变体与冠状动脉疾病(CAD)的发生有关。我们研究了在智利人群中,血管造影记录的CAD发生情况与NOS3基因G894T多态性之间的关联。

方法

本研究共纳入112例诊断为CAD的无亲缘关系患者和72例对照。通过聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)分析G894T基因多态性。

结果

CAD患者中G894T多态性的TT纯合基因型频率为7%,对照组为1%。然而,CAD组和对照组之间的基因型分布和等位基因频率无显著差异(P>0.05)。此外,与T变体相关的CAD优势比未达到统计学意义(OR=1.5;95%CI:0.87-2.59,P>0.05)。

结论

这些发现表明,在智利人群中,eNOS基因的G894T多态性与CAD无关。

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