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Updated: Jun 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Endothelial nitric oxide synthase Glu298Asp, 4b/a, and -786T>C gene polymorphisms and the risk of ischemic stroke
S Saidi1, S G Mallat, W Y Almawi
1Research Unit of Hematological and Autoimmune Diseases, Faculty of Pharmacy, University of Monastir, Tunisia.
Background And Purpose:
Endothelial nitric oxide synthase (eNOS) gene polymorphisms were associated with reduced NO production, and were evaluated as risk factors for ischemic stroke (IS). We investigated the association between eNOS gene -786T>C (promoter), 27-bp repeat 4b/4a (intron 4), and Glu298Asp (exon 7) polymorphisms with IS in 329 IS patients and 444 controls.
Materials And Methods:
Glu298Asp and -786T>C genotyping was done by PCR-RFLP, 4b/4a was assessed by PCR-ASA. The contribution of eNOS polymorphisms to IS was analyzed by haplotype and multivariate regression analysis.
Results:
Higher frequency of 298Asp allele was seen in IS patients (P = 1.2 x 10(-10)), which remained independently associated with IS on multivariate analysis after controlling for traditional cerebrovascular risk factors. Allele and genotype distribution of 4b/4a and -786T>C polymorphisms were comparable between patient and controls. Significantly higher prevalence of 298Asp/4b/-786T and 298Asp/4b/-786C haplotypes were seen in IS cases, thus conferring a disease susceptibility nature to these haplotypes. Multivariate regression analysis confirmed the association of 298Asp/4b/-786T and 298Asp/4b/-786C haplotypes, and in addition identified 298Asp/4a/-786T haplotype to be independently associated with IS, after controlling for traditional cerebrovascular risk factors.
Conclusions:
Genetic variation at the eNOS locus represent genetic risk factor for increased susceptibility to IS.
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