Association of the three potential endothelial nitric oxide synthase gene (eNOS) polymorphisms (T-786C in promoter region, G894T in exon 7 and tandem 27-bp repeats in intron 4) with an increased risk of lacunar infarction (LI) were investigated. Genotypes of 70 patients and 81 healthy controls were determined through PCR with or without RFLP. Flow-mediated dilatation (FMD) was performed to assess endothelial-dependent vasodilatation, whereas the endothelial-independent vasodilatation was assessed with nitroglycerin (NTG). Genotype distribution was significantly different between LI patients and controls for intron 4aa (alleles for four repeats), genotype frequency being 1.4% and 16.0%, respectively (odds ratio for additive effect, 0.47; 95% CI, 0.28-0.81; p=0.006). Haplotypes with the intron 4aa polymorphism were significantly higher in controls when compared with the LI group (p=0.001). Diminished FMD but normal NTG response confirmed that patients with LI have generalized endothelial dysfunction. Intron 4aa genotype of eNOS gene seems to be protective for isolated LI and the effect was potentiated by the absence of 786C polymorphism in any allele of the promoter region.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/10715760802691489 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Article Synopsis
- The study investigated the relationship between specific eNOS gene polymorphisms and ischemic stroke in the Anatolian population, involving 112 stroke patients and 160 controls.
- Researchers used real-time polymerase chain reaction (RT-PCR) to analyze genetic variations and compared the frequency of alleles and genotypes between the groups.
- Results showed no significant link for the G894T and T786C polymorphisms with stroke risk, but the intron 4 VNTR polymorphism was associated with a higher stroke risk in patients.
Association between endothelial nitric oxide synthase intron 4a/b polymorphism and aortic dissection.
Turk Kardiyol Dern Ars
January 2014
Department of Cardiology, Siyami Ersek Cardiovascular and Thoracic Surgery Center, İstanbul, Turkey.
Objectives: The genetic risk factors that contribute to the risk of developing aortic dissection (AD) have been studied. We assessed the association of endothelial nitric oxide synthase (eNOS) gene polymorphism with AD.
Study Design: Patients who underwent surgery with the diagnosis of AD and survived after the operation in our center between May 2007 and June 2011 were recruited retrospectively.
The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility.
Mol Reprod Dev
August 2010
Urology and Nephrology Research Centre, Shahid Beheshti University (MC), Tehran, Iran.
A considerable number of infertile men have no known mechanism for their infertility. This study aims to examine if there is an association between endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms and idiopathic male infertility. Three hundred fifty-two men with idiopathic infertility (mean age 32.
View Article and Find Full Text PDFEndothelial nitric oxide gene polymorphism and risk of systemic sclerosis: predisposition effect of T-786C promoter and protective effect of 27 bp repeats in Intron 4.
Clin Exp Rheumatol
August 2010
Department of Biochemistry, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Objectives: An impaired availability of nitric oxide (NO), related to polymorphisms in endothelial nitric oxide synthase (eNOS) gene, may influence the microvasculature in systemic Sclerosis (SSc). Three potential eNOS gene polymorphisms [tandem 27-bp repeats (VNTR) in intron 4, T786C in promoter region and G894T in exon 7] were investigated to affect the susceptibility to and the clinical course of SSc.
Methods: Fifty-nine patients with SSc (mean age 47,1+/-12,1 years) and 83 control subjects (mean age 41,1+/-12,8 years) were studied.
Intron 4 VNTR polymorphism of eNOS gene is protective for cardiac syndrome X.
J Investig Med
January 2010
Department of Biochemistry, Hacettepe University, Ankara, Turkey.
Microvascular abnormalities caused by endothelial dysfunction seem to be responsible for the myocardial ischemia in patients with cardiac syndrome X (CSX). Nitric oxide is a key mediator of endothelial function and is synthesized by endothelial nitric oxide synthase (eNOS). We investigated if the 3 potential polymorphisms of the eNOS gene (VNTR in intron 4, T786C polymorphism in the promoter region, and G894T polymorphism in exon 7) are independent risk factors for CSX.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!