Mohd Suhail Akhter1, Arijit Biswas2, Hina Rashid3, Luxmi Devi1, Madhuri Behari4, Renu Saxena5. 1. Department of Haematology, All India Institute of Medical Sciences, New Delhi, India. 2. Department of Molecular Biology, Institute of Experimental Haematology and Transfusion Medicine, Bonn, Germany. 3. Indian Council of Medical Research, New Delhi, India. 4. Department of Neurosciences, All India Institute of Medical Sciences, New Delhi, India. 5. Department of Haematology, All India Institute of Medical Sciences, New Delhi, India. Electronic address: renusaxena@outlook.com.
Abstract
INTRODUCTION: Nitric oxide levels and NOS3 gene variants play a pivotal role in the development of vascular diseases/stroke. We attempted to determine the role of NOS3 gene variants and plasma NO levels towards the development of ischemic stroke in young Asian-Indians. METHODS: One hundred ischemic stroke patients and 200 age and sex matched control study subjects were screened for NOS3 gene variants using SSCP [single stranded confirmation polymorphism] and PCR based techniques. Plasma NO metabolites [NOx] were evaluated for the investigated population. RESULTS: Significantly higher NOx levels were observed in controls [controls 56.63±25.92 μmol/L, patients 34.73±19.88 μmol/L, p<0.001]. The SNPs [single nucleotide polymorphisms] 894G/T, 1998C/G and 2479G/A were found associated with the disease phenotype with the most significant finding observed for 894G/T [χ(2)=36.68, p<0.001]. The SNPs 894G/T and 2479G/A were significantly associated with NOx levels [p=0.001]. The haplotypes TCA and TGA were overrepresented in the patient population [p<0.0001]. CONCLUSION: Two NOS3 SNP [894G/T and 2479G/A] variants and NOx levels are associated with ischemic stroke in young Asian Indians. These NOS3 SNPs might represent genetic risk factors for ischemic stroke in young Asian Indians. However these observations need to be confirmed by larger replicate/cross-sectional studies.
INTRODUCTION:Nitric oxide levels and NOS3 gene variants play a pivotal role in the development of vascular diseases/stroke. We attempted to determine the role of NOS3 gene variants and plasma NO levels towards the development of ischemic stroke in young Asian-Indians. METHODS: One hundred ischemic strokepatients and 200 age and sex matched control study subjects were screened for NOS3 gene variants using SSCP [single stranded confirmation polymorphism] and PCR based techniques. Plasma NO metabolites [NOx] were evaluated for the investigated population. RESULTS: Significantly higher NOx levels were observed in controls [controls 56.63±25.92 μmol/L, patients 34.73±19.88 μmol/L, p<0.001]. The SNPs [single nucleotide polymorphisms] 894G/T, 1998C/G and 2479G/A were found associated with the disease phenotype with the most significant finding observed for 894G/T [χ(2)=36.68, p<0.001]. The SNPs 894G/T and 2479G/A were significantly associated with NOx levels [p=0.001]. The haplotypes TCA and TGA were overrepresented in the patient population [p<0.0001]. CONCLUSION: Two NOS3 SNP [894G/T and 2479G/A] variants and NOx levels are associated with ischemic stroke in young Asian Indians. These NOS3 SNPs might represent genetic risk factors for ischemic stroke in young Asian Indians. However these observations need to be confirmed by larger replicate/cross-sectional studies.
Authors: Diego F Salazar-Tortosa; José M Pascual-Gamarra; Idoia Labayen; Azahara I Rupérez; Laura Censi; Laurent Béghin; Nathalie Michels; Marcela González-Gross; Yannis Manios; Christina-Paulina Lambrinou; Luis A Moreno; Aline Meirhaeghe; Manuel J Castillo; Jonatan R Ruiz Journal: Pediatr Res Date: 2021-04-15 Impact factor: 3.953