G894T endothelial nitric oxide synthase polymorphism and ischemic stroke in Morocco

Brehima Diakite; Khalil Hamzi; Ilham Slassi; Mohammed El Yahyaoui; Moulay M F El Alaoui; Rachida Habbal; Nadifi Sellama; GMRAVC

doi:10.1016/j.mgene.2014.04.003

G894T endothelial nitric oxide synthase polymorphism and ischemic stroke in Morocco

Meta Gene. 2014 May 7:2:349-57. doi: 10.1016/j.mgene.2014.04.003. eCollection 2014 Dec.

Authors

Brehima Diakite¹, Khalil Hamzi¹, Ilham Slassi², Mohammed El Yahyaoui³, Moulay M F El Alaoui³, Rachida Habbal⁴, Nadifi Sellama¹; GMRAVC

Affiliations

¹ Department of Genetic and Molecular Pathology Laboratory (LGPM), Faculty of Medicine and Pharmacy, Hassan II University, 9154 Casablanca, Morocco.
² Department of Neurology, Hassan II University Hospital, 9154 Casablanca, Morocco.
³ Department of Neurology, Souissi University Hospital, 6203 Rabat, Morocco.
⁴ Department of Cardiology, Hassan II University Hospital, 9154 Casablanca, Morocco.

Abstract

Nitric oxide plays a major role in the regulation of cerebral blood flow and loss of its function leads to alteration of the vascular relaxation given its central role in the physiology of the vascular system. G894T eNOS polymorphism could have adverse effects on the expression and activity of endothelial nitric oxide synthase, which can result in functional impairment of the endothelium and contribute to the development of ischemic stroke in the different models of transmission. In this study, genotyping with PCR-RFLP and HRM (high resolution melting) methods were conducted on 165 ischemic stroke patients as well as 182 controls. The goal here was to compare genotyping with PCR-RLFP primer sequences of eNOS gene (size < 300 bp) to HRM. Our data suggests a statistically significant association between G894T eNOS polymorphism and ischemic stroke in recessive, dominant and additive models with P < 0.05 and odds ratio of 2.68 (1.08-6.70), 1.78 (1.16-2.73), and 1.71 (1.21-2.43) respectively. In sum, although the sample size is relatively small, it suggests that G894T eNOS polymorphism could be a potentially important genetic marker of ischemic stroke in the Moroccan population. Future studies should be conducted in this direction taking into consideration the functional activity of eNOS.

Keywords: 894T eNOS, mutant allele of endothelial nitric oxide synthase; AB, applied biosystems; CI, confidence interval; DNA, deoxyribonucleic acid or deoxyribose nucleic acid; Fig., figure; G894T eNOS; G894T eNOS, replacement guanine by thymine at position 894 of the endothelial nitric oxide synthase; GG eNOS, homozygous wild of endothelial nitric oxide synthase; GT eNOS, heterozygous mutant of endothelial nitric oxide synthase; Genetics models; HRM, high resolution melt; IS, ischemic stroke; Ischemic stroke; LGPM, genetic and molecular pathology laboratory; NO, nitric oxide; OR, odds ratio; P, P value; PCR-RFLP, polymerase chain reaction-restriction fragment length polymorphism; Ref., reference; TOAST, Trial of Org 10172 in Acute Stroke Treatment; TT eNOS, homozygous mutant of endothelial nitric oxide synthase; bp, base pair; eNOS, endothelial nitric oxide synthase; vs, versus; χ2, chi square.