GCH1 (rs841) polymorphism in the nitric oxide-forming pathway has protective effects on obstructive sleep apnea.

Several studies have recently investigated the contribution of genetic factors in obstructive sleep apnea (OSA). Patients with OSA suffer from a reduction in nitric oxide (NO) serum level. This study investigated rs841, A930G p22phox, and rs1799983 polymorphisms in three critical genes involved in NO formation. A total of 94 patients with OSA and 100 healthy controls were enrolled into the study. Results showed there was no association between rs841, A930G p22phox and rs1799983 polymorphism and the risk of OSA (P = 0.51, P = 0.4 and P = 0.33, respectively). Moreover, rs841 GA genotype had a reverse relationship with the severity of OSA (P = 0.005). On the other hand, rs841 GA and A930G p22phox AA genotypes had a protective effect on daytime sleepiness in OSA patients (P = 0.01and P = 0.02, respectively). Additionally, the combination of rs841 and A930G p22phox (AG/AG and AG/AA) genotypes was significantly associated with a reduction in daytime sleepiness in OSA patients (P = 0.03 and P = 0.03, respectively). According to the results of our study, GA genotype of rs841 and GA/AA genotypes of A930G p22phox polymorphisms significantly reduced the severity of the problem and daytime sleepiness in OSA patients.