Abstract:
Background. eNOS gene has been extensively screened for variation. The only common variation identified is the G894T (guanine/thymine substitution) at exon 7 that leads to glutamate/aspartate substitution at position 298 in the mature protein. This study aimed to detect eNOS gene polymorphisms in Egyptian population to be used as a reference for future studies, and to explore functional correlations of eNOS genotypes with serum nitric oxide (NO). Methods. Random unrelated 101 healthy subjects were recruited for the study from the volunteers attending the blood bank at 57357 Hospital in Cairo, Egypt. eNOS genotypes were determined by PCR-RFLP. Serum NO was determined spectrophotometrically. Results. Genotype distribution of eNOS Glu298Asp polymorphism in Egyptian population was 58.42% GG (wild type), 33.66% GT and 7.92% TT genotypes while the allele frequencies were 75.25% and 24.75% for the G and T alleles, respectively. No significant association between serum NO and specific eNOS genotype. Conclusions. The present study demonstrated the predominance of the homozygous genotype GG over the heterozygous GT and homozygous TT in random samples of Egyptian population. It also showed the lack of association between eNOS genotypes and mean serum levels of NO.
