Intergenic SNPs in Obstructive Sleep Apnea Syndrome: Revealing Metabolic, Oxidative Stress and Immune-Related Pathways

There is strong evidence supporting the contribution of genetic factors to obstructive sleep apnea syndrome (OSAHS) susceptibility. In the current study we analyzed both in a clinical cohort and in silico, four single nucleotide polymorphisms SNPs, rs999944, rs75108997, rs35329661 and rs116133558 that have been associated with OSAHS. In 102 patients with OSAHS and 50 healthy volunteers, genetic testing of the above polymorphisms was performed. Polymorphism rs116133558 was invariant in our study population, whereas polymorphism rs35329661 was more than 95% invariant. Polymorphism rs999944 displayed significant (> 5%) variance in our study population and was used in the binary logistic regression model. In silico analyses of the mechanism by which these three SNPs may affect the pathophysiology of OSAHS revealed a transcriptomic network of 274 genes. This network was involved in multiple cancer-associated gene signatures, as well as the adipogenesis pathway. This study, uncover a regulatory network in OSAHS using transcriptional targets of intergenic SNPs, and map their contributions in the pathophysiology of the syndrome on the interplay between adipocytokine signaling and cancer-related transcriptional dysregulation.

Automated summary

Genetic factors play a crucial role in the pathophysiology of OSAHS, with analysis of four SNPs associated with the syndrome revealing significant variance in certain polymorphisms among patients. In silico analysis identified a transcriptomic network of 274 genes involving cancer-associated gene signatures and adipogenesis pathway, shedding light on the regulatory mechanism and pathophysiology of OSAHS.