NLRP3 Gene Promoter Region Polymorphisms; Relations with Inflammation on Obstructive Sleep Apnea Syndrome (OSAS)

SAHIN U., Calapoğlu M., ÖZTÜRK Ö., TÜLÜCEOĞLU E. E., Calapoğlu N. Ş.

Süleyman Demirel Üniversitesi Fen Edebiyat Fakültesi Fen Dergisi, cilt.20, sa.1, ss.75-86, 2025 (TRDizin)

Özet

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.