Summary
Recent data from animal models indicate that the eNOS null mice present a phenotype
that resemble the human metabolic syndrome (hypertension, insulin resistance and hypertriglyceridemia).
In this work, we have studied whether NOS3 gene, previously related to endothelial dysfunction, might have a role in metabolic
syndrome susceptibility in hypertensive patients. To carry out the study, we genotyped
105 hypertensive patients ≤ 60 years old with two polymorphisms of NOS3 gene: 1132 T>C and 7164 G>T (GeneBank:AF519768.1).To check the allelic frequency
of these polymorphisms in our geographical area, we also genotyped 94 unselected healthy
controls (control group). To perform sample genotyping, we designed a novel FRET system
coupled to real time PCR. There were no differences in genotypic distribution or allelic
frequency between hypertensive patients and the control group. However, we observed
that 786CC genotype was significantly more frequent in hypertensive patients with
metabolic syndrome than in those without the syndrome (p=0.0022). When both polymorphisms
were analyzed, we identified the 786C894G as the risk haplotype for metabolic syndrome
susceptibility (p=0.011). These data suggest a role of the NOS3 gene in the pathogenesis of metabolic syndrome in hypertensive patients.
Keywords
NOS3
- polymorphism - genetics - metabolic syndrome - hypertension