Endothelial nitric oxide synthase gene polymorphisms in giant cell arteritis

Abstract

Objective. To examine potential associations of the Glu/Asp 298 polymorphism in exon 7 and the 4a/b polymorphism in intron 4 of the endothelial nitric oxide synthase (eNOS) gene with susceptibility to and clinical expression of giant cell arteritis (GCA), particularly in patients with versus those without ischemic complications.Methods. Ninety-one consecutive patients with biopsy-proven GCA, who were residents of Reggio Emilia, Italy, and 133 population-based controls from the same geographic area were genotyped by polymerase chain reaction and allele-specific oligonucleotide techniques for eNOS polymorphisms in exon 7 and intron 4. The patients were separated into 2 subgroups according to the presence or absence of ischemic complications (visual loss and/or jaw claudication and/or aortic arch syndrome).Results. The distribution of the Glu/Asp 298 genotype differed significantly between GCA patients and controls (corrected P [P corr ] ‫؍‬ 0.003). Carriers of the Asp 298 allele (Asp/Asp or Glu/Asp) were significantly more frequent among the GCA patients than among the controls (P corr ‫؍‬ 0.0002, odds ratio 3.3, 95% confidence interval 1.7-6.3). The distribution of the 4a/b genotype was similar in GCA patients and controls. No significant associations were found when GCA patients with and without ischemic complications were compared.Conclusion. Our findings show that the Glu/ Asp 298 polymorphism of the eNOS gene is associated with GCA susceptibility.

Associations between eNOS polymorphisms and susceptibility to systemic lupus erythematosus: a meta-analysis

“…ab genotype (b) of the 4b/a polymorphism and LN function. Since glutamate and aspartate are conservative substitutions, this polymorphism may serve as a marker for a functional effect elsewhere in the eNOS gene or in the vicinity of the eNOS gene [22]; for example, it may be in linkage disequilibrium with regulatory polymorphisms in the same haplotype. Furthermore, it has been suggested that the G894T polymorphism generates protein products susceptible to cleavage.…”

Endothelial nitric oxide synthase gene polymorphism in gastric cancer

“…Restriction digestion was performed in a total volume of 25 μl reaction mixture containing 10 μl PCR product and 2 U BanII restriction endonuclease (Roche Diagnostics GmbH, Germany). Reaction mixtures were incubated at 37°C overnight and the genotyeNOS polymorphism in gastric cancer pes were determined by agarose gel electrophoresis of restriction digests in 2% agarose gel containing 0.5 μg/ml ethidium bromide (17).…”

Effects of human endothelial gene polymorphisms on cellular responses to hyperglycaemia: Role of NOS3 (Glu298Asp) and ACE (I/D) polymorphisms

“…25,26 Several variations in the human genome have been linked to increased risk of cardiovascular disease, and some of these are known to relate specifically to endothelium-relevant processes. [27][28][29][30][31][32] Here, we focused on two genetic variations (in NOS3 and ACE) known to occur with high frequency and known to be statistically associated with various forms of vascular disease, including diabetesrelated cardiovascular complications. Using this approach we were able to test the hypothesis that the presence of the NOS3 Glu298Asp genotype, or the ACE insertion/deletion genotype, affected the endothelial response to glycaemic stress or 3NT exposure.…”