scholarly journals Role of Endothelial Nitric Oxide Synthase Gene Polymorphisms in Predicting Aneurysmal Subarachnoid Hemorrhage in South Indian Patients

2008 ◽  
Vol 24 (6) ◽  
pp. 333-339 ◽  
Author(s):  
Linda Koshy ◽  
H. V. Easwer ◽  
N. V. Neetha ◽  
Chandrasekhar Natarajan ◽  
R. N. Bhattacharya ◽  
...  

Endothelial nitric oxide synthase (eNOS) gene polymorphisms have been implicated as predisposing genetic factors that can predict aneurysmal subarachnoid hemorrhage (aSAH), but with controversial results from different populations. Using a case-control study design, we tested the hypothesis whether variants ineNOSgene can increase risk of aSAH among South Indian patients, either independently, or by interacting with other risk factors of the disease. We enrolled 122 patients, along with 224 ethnically matched controls. We screened the intron-4 27-bp VNTR, the promoter T-786C and the exon-7 G894T SNPs in theeNOSgene. We found marked interethnic differences in the genotype distribution ofeNOSvariants when comparing the South Indian population with the reported frequencies from Caucasian and Japanese populations. Genotype distributions in control and patient populations were found to be in Hardy-Weinberg equilibrium. In patients, the allele, genotype and estimated haplotype frequencies did not differ significantly from the controls. Multiple logistic regression indicated hypertension and smoking as risk factors for the disease, however the risk alleles did not have any interaction with these risk factors. Although theeNOSpolymorphisms were not found to be a likely risk factor for aSAH, the role of factors such as ethnicity, gender, smoking and hypertension should be evaluated cautiously to understand the genotype to phenotype conversion.

2020 ◽  
Vol 14 (10) ◽  
pp. 948-955
Author(s):  
Canan Koçer ◽  
Necla Benlier ◽  
Sibel Oğuzkan Balci ◽  
Sacide Pehlivan ◽  
Maruf Şanli ◽  
...  

2008 ◽  
Vol 28 (6) ◽  
pp. 1204-1211 ◽  
Author(s):  
Robert M Starke ◽  
Grace H Kim ◽  
Ricardo J Komotar ◽  
Zachary L Hickman ◽  
Eric M Black ◽  
...  

Vasospasm is a major cause of morbidity and mortality after aneurysmal subarachnoid hemorrhage (aSAH). Studies have shown a link between single-nucleotide polymorphisms (SNPs) in the endothelial nitric oxide synthase (eNOS) gene and the incidence of coronary spasm and aneurysms. Alterations in the eNOS T-786 SNP may lead to an increased risk of post-aSAH cerebral vasospasm. In this prospective clinical study, 77 aSAH patients provided genetic material and were followed for the occurrence of vasospasm. In multivariate logistic regression analysis, genotype was the only factor predictive of vasospasm. The odds ratio (OR) for symptomatic vasospasm in patients with one T allele was 3.3 (95% confidence interval (CI): 1.1 to 10.0, P=0.034) and 10.9 for TT. Patients with angiographic spasm were 3.6 times more likely to have a T allele (95% CI: 1.3 to 9.6, P=0.013; for TT: OR 12.6). Patients with severe vasospasm requiring endovascular therapy were more likely to have a T allele (OR 3.5, 95% CI: 1.3 to 9.5, P=0.016; for TT: OR 12.0). Patients with the T allele of the eNOS gene are more likely to have severe vasospasm. Presence of this genotype may allow the identification of individuals at high risk for post-aSAH vasospasm and lead to early treatment and improved outcome.


2009 ◽  
Vol 37 (4) ◽  
pp. 1003-1010
Author(s):  
AK Tuygun ◽  
M Keser ◽  
A Tuygun ◽  
B Ketenci ◽  
Y Şensöz ◽  
...  

This study investigated risk factors for atherosclerosis and their relationship with lesion sites. Patients ( n = 160) with peripheral artery disease (PAD) completed a questionnaire regarding risk factors for PAD. Endothelial nitric oxide synthase (eNOS) and interleukin (IL)-6 gene polymorphisms and asymmetric dimethylarginine (ADMA) levels were measured. Patients with coronary artery disease had significantly higher ratios of eNOS T/C and C/C genotypes, which include the C allele, than the T/T genotype. The IL-6 gene polymorphism distribution ratios for patients with over four risk factors were significantly different compared with other patients, with a higher rate of the C/C genotype. ADMA levels did not show any significant relationship to risk factors or polymorphism. Levels were, however, slightly higher in femoral lesion sites. The results support a model in which the C/C genotype of eNOS and IL-6 gene polymorphisms promote PAD development. The eNOS C/C genotype may have an independent effect, whereas the effects of the IL-6 C/C genotype are seen in conjunction with other risk factors.


2021 ◽  
Vol 19 (2) ◽  
pp. 16-21
Author(s):  
G Sasirekha ◽  

Background: Nitric oxide (endothelium derived relaxing factor) is synthesized from L-arginine by nitric oxide synthases. Endothelial NOS is responsible for most of the nitric oxide produced under physiological conditions. Acting via cGMP NO cause smooth muscle relaxation, prevents platelet aggregation and acts as an anti-inflammatory agent thereby playing a vital role in regulating vascular tone. Various studies have postulated the role of Nitricoxide in vascular disorders like hypertension and atherosclerosis. This study is aimed to find out the influence of endothelial nitric oxide synthase gene intron 4 VNTR polymorphism on Serum nitric oxide level among healthy South-Indian Population. Genotype analysis was done on 282 randomly selected healthy individuals by polymerase chain reaction. Phenotype analysis of eNOS activity was done by measuring serum NOx level. Significantly lower eNOS activity (10.5 versus 18.3, P value is < 0.00001) among ‘a’ alleles when compared to ‘b’ alleles. We have found the presence of eNOS ‘a’ allele is found to decrease serum NOx level. As the distribution of ‘a’allele is lower among the population, a larger study is needed to find the role of eNOS intron4 gene in maintaining serum Nitric oxide level.


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