RT info:eu-repo/semantics/article T1 Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study A1 Jiménez Sousa, María Ángeles A1 Engel López, Elisabeth A1 Fernández Rodríguez, Amanda A1 Tamayo Gómez, Eduardo A1 Fernández Navarro, Pablo A1 Segura Roda, Laura A1 Heredia Rodríguez, María A1 Gómez Herreras, José Ignacio A1 Bustamante, Jesús A1 García Gómez, Juan Miguel A1 Bermejo Martín, Jesús Francisco A1 Resino, Salvador K1 Genetic polymorphism K1 Polimorfismo genético K1 Renal disease: K1 Enfermedad renal AB Background: Chronic kidney disease progression has been linked to pro-inflammatory cytokines and markers of inflammation. These markers are also elevated in end-stage renal disease (ESRD), which constitutes a serious public health problem. Objective: To investigate whether single nucleotide polymorphisms (SNPs) located in genes related to immune and inflammatory processes, could be associated with ESRD development. Design and methods: A retrospective case-control study was carried out on 276 patients with ESRD and 288 control subjects. Forty-eight SNPs were genotyped via SNPlex platform. Logistic regression was used to assess the relationship between each sigle polymorphism and the development of ESRD. Results: Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene (OR: 0.66 (95%CI = 0.46-0.95); p = 0.025; overdominant model), rs4586 in chemokine (C-C motif) ligand 2 (CCL2) gene (OR: 0.70 (95%CI = 0.54-0.90); p = 0.005; additive model), rs301640 located in an intergenic binding site for signal transducer and activator of transcription 4 (STAT4) (OR: 1.82 (95%CI = 1.17-2.83); p = 0.006; additive model) and rs7830 in the nitric oxide synthase 3 (NOS3) gene (OR: 1.31 (95%CI = 1.01-1.71); p = 0.043; additive model). After adjusting for multiple testing, results lost significance. Conclusion: Our preliminary data suggest that four genetic polymorphisms located in genes related to inflammation and immune processes could help to predict the risk of developing ESRD. PB Springer Nature SN 1471-2350 YR 2012 FD 2012 LK http://uvadoc.uva.es/handle/10324/45654 UL http://uvadoc.uva.es/handle/10324/45654 LA eng NO BMC Medical Genetics, 2012, vol. 13. 6 p. NO Producción Científica DS UVaDOC RD 04-dic-2024