NLRP3 Gene Promoter Region Polymorphisms; Relations with Inflammation on OSAS

Obstructive sleep apnea syndrome (OSAS) is influenced by genetic, environmental, and developmental factors, with hereditary risk estimated at around 40%. Increasing evidence suggests that OSAS is a low-grade chronic inflammatory disease, though the exact mechanisms remain unclear. NLRP3, a key component of the inflammasome, plays a central role in initiating inflammation. This study investigated the impact of potential single nucleotide polymorphisms (SNPs) in the NLRP3 promoter region on plasma NLRP3 levels and OSA-related traits. Participants were divided into OSA (n = 61) and non-OSA (n = 40) groups following polysomnography. Serum levels of NLRP3, IL-6, TNF-α, IL-1β, and C-reactive protein (CRP) were measured. A 1388 bp region of the NLRP3 promoter was sequenced in all subjects. Only two SNPs (rs7523422 and rs138900557) were identified. The -405C allele was significantly associated with OSAS (OR 2.13, 95% CI 1.07–4.26, p = 0.03) and linked to higher serum levels of NLRP3, IL-6, TNF-α, IL-1β, IL-10, and CRP (p < 0.001), as well as altered REM sleep (p < 0.05). These findings suggest that NLRP3 gene variants may contribute to OSAS pathogenesis through inflammation-related pathways.