BACKGROUND In obstructive sleep apnea (OSA), recurrent upper airway obstruction and apnea/hypopnea episodes result in endothelial dysfunction, which leads to the release of many proinflammatory cytokines and reactive oxygen species (ROS). ROS induces NLRP3, a protein involved in the synthesis of interleukin (IL)-1 and IL-18; vaspin is a serine protease inhibitor that has an important role in suppressing the activation of NLRP3 inflammasome. In this study, we aimed to investigate the effect of NLRP3 rs10159239 (rs9239) and vaspin rs2236242 (rs6242) single nucleotide polymorphisms (SNPs) on OSA development. METHODS This study included 220 individuals who underwent polysomnography (118 patients with OSA and 102 healthy controls). NLRP3 rs9239 and vaspin rs6242 mutation frequencies were analyzed. RESULTS The NLRP3 rs9239 SNP genotype analysis revealed no statistically significant differences between the OSA and control groups. In the vaspin gene analysis, the rs6242 AA genotype was significantly more frequent in the OSA group compared with the control group, while the AT genotype was more frequent in controls (P = 0.004, P = 0.02). Comparison of rs6242 allele levels showed that the A allele was significantly more frequent in OSA patients than in controls (P = 0.03). The AA genotype was significantly more frequent in patients with severe OSA than in patients with mild or moderate OSA and the control group (P = 0.001 for all). Serum vaspin levels were significantly lower in carriers of the AA genotype than those with AT and TT genotypes (P = 0.001). CONCLUSION The vaspin rs6242 SNP AA genotype increased susceptibility to OSA, while the AT genotype appeared to be protective. The lower plasma vaspin levels in OSA compared with the control group and in patients with the AA genotype suggest that vaspin may be a protective biomarker for OSA.

中文翻译：

---

NLRP3 rs10159239 和 Vaspin rs2236242 基因变异与阻塞性睡眠呼吸暂停的关系。

背景在阻塞性睡眠呼吸暂停 (OSA) 中，反复上气道阻塞和呼吸暂停/低通气发作会导致内皮功能障碍，从而导致许多促炎细胞因子和活性氧 (ROS) 的释放。ROS 诱导 NLRP3，一种参与白介素 (IL)-1 和 IL-18 合成的蛋白质；vaspin 是一种丝氨酸蛋白酶抑制剂，在抑制 NLRP3 炎性体的激活方面具有重要作用。在本研究中，我们旨在研究 NLRP3 rs10159239 (rs9239) 和 vaspin rs2236242 (rs6242) 单核苷酸多态性 (SNP) 对 OSA 发展的影响。方法 这项研究包括 220 名接受多导睡眠图检查的人（118 名 OSA 患者和 102 名健康对照者）。分析了 NLRP3 rs9239 和 vaspin rs6242 突变频率。结果 NLRP3 rs9239 SNP 基因型分析显示OSA 组和对照组之间没有统计学上的显着差异。在 vaspin 基因分析中，与对照组相比，OSA 组中 rs6242 AA 基因型的频率明显更高，而对照组中 AT 基因型的频率更高（P = 0.004，P = 0.02）。rs6242 等位基因水平的比较表明，A 等位基因在 OSA 患者中的频率明显高于对照组（P = 0.03）。AA 基因型在重度 OSA 患者中明显高于轻度或中度 OSA 患者和对照组（所有 P = 0.001）。AA 基因型携带者的血清 vaspin 水平显着低于 AT 和 TT 基因型携带者（P = 0.001）。结论 vaspin rs6242 SNP AA 基因型增加了对 OSA 的易感性，而 AT 基因型似乎具有保护性。与对照组和 AA 基因型患者相比，OSA 中较低的血浆 vaspin 水平表明 vaspin 可能是 OSA 的保护性生物标志物。