Lack of association of eNOS (G894T) and p22phox NADPH oxidase subunit (C242T) polymorphisms with systemic sclerosis in a cohort of French Caucasian patients.

Objective: To assess the influence of endothelial nitric oxide synthase (eNOS) and nicotinamide adenine dinucleotide phosphate (NADPH) oxidase polymorphisms on the susceptibility of patients to and clinical expression of systemic sclerosis (SSc).

Methods: Seventy-seven French Caucasian patients with SSc were studied. Patients and ethnically matched controls (n=49) were genotyped, by restriction enzyme digestion of polymerase chain reaction (PCR) products, for G894T polymorphism in exon 7 of the eNOS gene and for C242T polymorphism of the gene encoding the p22(phox) NADPH oxidase subunit.

Results: The allele and genotype frequencies of the polymorphisms did not differ between patients with SSc and the controls. Moreover, there was no association between these polymorphisms and disease phenotypes.

Conclusion: Our results indicate that eNOS (G894T) and p22(phox) (C242T) polymorphisms do not influence susceptibility to and the course of systemic sclerosis.