Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/7065
Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study
Jimenez-Sousa, Maria Angeles ISCIII | López, Elisabeth | Fernandez-Rodriguez, Amanda ISCIII | Tamayo, Eduardo | Fernandez-Navarro, Pablo L ISCIII | Segura-Roda, Laura | Heredia, María | Gómez-Herreras, José I | Bustamante, Jesús | García-Gómez, Juan Miguel | Bermejo-Martin, Jesús F | Resino, Salvador ISCIII
BMC Med Genet. 2012 Jul 20;13:58.
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.
Aged | Case-Control Studies | Chemokine CCL2 | Female | Genetic Predisposition to Disease | Genotype | Humans | Immune System | Inflammation | Kidney Failure, Chronic | Male | Middle Aged | Models, Genetic | Nitric Oxide Synthase Type III | Receptors, Interleukin-4 | Regression Analysis | Retrospective Studies | STAT4 Transcription Factor | Polymorphism, Genetic
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