Division of Musculoskeletal and Rheumatic Diseases, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City, Mexico.
Gerosciences Laboratory, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City, Mexico.
Rev Invest Clin. 2022 May 2;74(3):147-155. doi: 10.24875/RIC.21000603.
The inflammatory response in gout disease is induced by the activation of NLR family pyrin domain-containing 3 (NLPR3) signaling pathway mediated by IL-1β release.
The objective of the study was to determine the association between single nucleotide polymorphisms (SNPs) within NLRP3 inflammasome genes and gout susceptibility.
Mexican patients with gout from the National Rehabilitation Institute and General Hospital of Mexico were enrolled. A healthy control group was also included. We analyzed the frequency and allelic distribution of eight SNPs from seven different genes within the NLRP3 inflammasome signaling pathway: TLR4 rs2149356, CD14 rs2569190, NLRP3 rs3806268, NLRP3 rs10754558, CARD8 rs2043211, IL-1β rs1143623, P2RX7 rs3751142, and PPARGC1B rs45520937 SNPs.
We found that the SNP rs45520937 of PPARGC1B was associated with the risk of developing gout when it was analyzed using the dominant model (Odds ratio [OR] = 2.30; 95% confidence interval [CI]: 1.09-4.86; p = 0.030), and it is proposed that the adaptor molecule CD14 rs2569190 polymorphism could be associated with a lower risk of gout under an additive model (OR= 0.41;95% CI: 0.16-1.05; p = 0.064). No significant associations were identified for the remaining SNPs.
Our findings suggest that the PPARGC1B rs45520937 SNP is associated with gout susceptibility.
痛风疾病的炎症反应是由白细胞介素-1β（IL-1β）释放介导的 NLR 家族 pyrin 域包含 3（NLPR3）信号通路的激活引起的。
本研究旨在确定 NLRP3 炎症小体基因内的单核苷酸多态性（SNPs）与痛风易感性之间的关联。
我们纳入了来自墨西哥国家康复研究所和墨西哥总医院的痛风患者和健康对照组。我们分析了 NLRP3 炎症小体信号通路中七个不同基因的八个 SNPs 的频率和等位基因分布：TLR4 rs2149356、CD14 rs2569190、NLRP3 rs3806268、NLRP3 rs10754558、CARD8 rs2043211、IL-1β rs1143623、P2RX7 rs3751142 和 PPARGC1B rs45520937 SNPs。
我们发现，当使用显性模型分析时，PPARGC1B 的 SNP rs45520937 与痛风发病风险相关（优势比[OR] = 2.30；95%置信区间[CI]：1.09-4.86；p = 0.030），并且提出了共刺激分子 CD14 rs2569190 多态性可能与加性模型下的痛风风险降低相关（OR= 0.41；95% CI：0.16-1.05；p = 0.064）。其余 SNPs 未发现显著关联。
我们的研究结果表明，PPARGC1B rs45520937 SNP 与痛风易感性相关。
