ISSN: 0034-8376
eISSN: 2564-8896





Inflammasome Genes Polymorphisms and Susceptibility to Gout. Is There a Link?




Denise Clavijo-Cornejo, Division of Musculoskeletal and Rheumatic Diseases, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City, Mexico Alberto López-Reyes, Gerosciences Laboratory, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City, Mexico Esteban Cruz-Arenas, Hospital Epidemiological Surveillance Unit, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City, Mexico Leonor Jacobo-Albavera, Laboratory of Cardiovascular Genomics, Instituto Nacional de Medicina Genómica, Mexico City, Mexico Daniel Rivera-Tlaltzicapa, Universidad Autónoma Metropolitana, Mexico City, Mexico Adriana Francisco-Balderas, Graduate Studies Department, Escuela Superior de Medicina, Instituto Politécnico Nacional, Mexico City, Mexico Mayra Domínguez-Pérez, Universidad Estatal del Valle de Ecatepec, Mexico City, Mexico Pablo Romero-Morelos, Rheumatology Department, Hospital General de México, Mexico City, Mexico Janitzia Vázquez-Mellado, Rheumatology Department, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico Luis H. Silveira, Synovial Fluid Laboratory, Instituto Nacional de Rehabilitación LGII, Mexico City, Mexico Carlos Pineda, Division of Musculoskeletal and Rheumatic Diseases, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City, Mexico Gabriela Martínez-Nava, Synovial Fluid Laboratory, Instituto Nacional de Rehabilitación LGII, Mexico City, Mexico Marwin Gutierrez, Division of Musculoskeletal and Rheumatic Diseases, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Mexico City, Mexico


Background: 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. Objective: The objective of the study was to determine the association between single nucleotide polymorphisms (SNPs) within NLRP3 inflammasome genes and gout susceptibility. Methods: 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. Results: 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. Conclusion: Our findings suggest that the PPARGC1B rs45520937 SNP is associated with gout susceptibility.



Keywords: Gout. SNPs. NLRP3. Inflammasome.