Bae Jeehyeon, Kim In Jai, Hong Seung Ho, Sung Jung Hoon, Lim Sang Wook, Cha Dong Hoon, Cho Yong Wook, Oh Doyeun, Kim Nam Keun
Institute for Clinical Research, ; Department of Biomedical Science, CHA University, Seongnam;
Exp Ther Med. 2010 Jul;1(4):719-724. doi: 10.3892/etm_00000111. Epub 2010 Jul 1.
Polymorphisms of the endothelial nitric oxide synthase (eNOS) gene have been implicated in various diseases, but their roles as risk factors in type 2 diabetes mellitus (T2DM) with regard to coronary artery disease (CAD) are largely unknown. Therefore, we investigated the association of the genotypes and haplotypes of eNOS polymorphisms in CAD with T2DM. A case-control study was performed to evaluate the genotypes and haplotypes of the eNOS polymorphisms (-786T>C, 4a4b and 894G>T) in 192 CAD patients and 196 controls. The same population was also re-organized upon the status of T2DM. The genotypes of eNOS -786T>C, 4a4b and 894G>T polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism. We found that eNOS -786TC+CC and 4a4b+4a4a genotypes were significantly prevalent in the diabetic controls and the diabetic CAD patients compared to the non-diabetic controls or non-diabetic CAD patients, respectively. The frequency of the -786C-4a-894G haplotype was significantly greater in the diabetic CAD patients (p=0.001) and diabetic controls (p=0.023) compared to the non-diabetic controls, whereas the haplotype of -786T-4b-894G was less prevalent in the diabetic CAD patients compared to the non-diabetic controls (p=0.018). Significant associations of the genotypes and the haplotypes were consistently observed in the T2DM group compared to non-DM group, regardless of CAD status. Our finding suggests that the eNOS -786T>C and 4a4b polymorphisms and the -786C-4a-894G haplotype are risk factors for T2DM, whereas the haplotype of -786T-4b-894G has a protective effect against the development of T2DM.
内皮型一氧化氮合酶（eNOS）基因多态性与多种疾病有关，但其作为2型糖尿病（T2DM）合并冠状动脉疾病（CAD）风险因素的作用尚不清楚。因此，我们研究了CAD患者中eNOS基因多态性的基因型和单倍型与T2DM的关联。进行了一项病例对照研究，以评估192例CAD患者和196例对照中eNOS基因多态性（-786T>C、4a4b和894G>T）的基因型和单倍型。同一人群也根据T2DM状态进行了重新分组。通过聚合酶链反应-限制性片段长度多态性确定eNOS -786T>C、4a4b和894G>T多态性的基因型。我们发现，与非糖尿病对照组或非糖尿病CAD患者相比，eNOS -786TC+CC和4a4b+4a4a基因型分别在糖尿病对照组和糖尿病CAD患者中显著流行。与非糖尿病对照组相比，-786C-4a-894G单倍型在糖尿病CAD患者（p=0.001）和糖尿病对照组（p=0.023）中的频率显著更高，而-786T-4b-894G单倍型在糖尿病CAD患者中的流行率低于非糖尿病对照组（p=0.018）。与非糖尿病组相比，无论CAD状态如何，在T2DM组中均一致观察到基因型和单倍型的显著关联。我们的研究结果表明，eNOS -786T>C和4a4b多态性以及-786C-4a-894G单倍型是T2DM的风险因素，而-786T-4b-894G单倍型对T2DM的发生具有保护作用。
