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Open Access Research article

Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study

Ma Angeles Jimenez-Sousa1, Elisabeth López2, Amanda Fernandez-Rodríguez1, Eduardo Tamayo2, Pablo Fernández-Navarro34, Laura Segura-Roda5, María Heredia2, José I Gómez-Herreras2, Jesús Bustamante6, Juan Miguel García-Gómez5, Jesús F Bermejo-Martin7 and Salvador Resino1*

Author affiliations

1 Unidad de Epidemiología Molecular de Enfermedades Infecciosas, Centro Nacional de Microbiología, Instituto de Salud Carlos III (Campus Majadahonda), Carretera Majadahonda- Pozuelo, Km 2.2, 28220, Majadahonda (Madrid), Spain

2 Departamento de Anestesiología y Reanimación, Hospital Clínico Universitario, Valladolid, Spain

3 Área de Epidemiología Ambiental y Cáncer Unit. Centro Nacional de Epidemiología, Instituto de Salud Carlos III, Madrid, Spain

4 CIBER Epidemiología y Salud Pública (CIBERESP), Barcelona, Spain

5 IBIME, Instituto de Aplicaciones de las Tecnologías de la Información y de las Comunicaciones Avanzadas (ITACA), Universitat Politècnica de València, València, Spain

6 Departamento de Nefrología, Hospital Clínico Universitario, Valladolid, Spain

7 Unidad de Investigación Médica en Infección e Inmunidad, Hospital Clínico Universitario-IECSCYL, Valladolid, Spain

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Citation and License

BMC Medical Genetics 2012, 13:58  doi:10.1186/1471-2350-13-58

Published: 20 July 2012



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.


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.


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.


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.

ESRD; Kidney; Genetic polymorphism; Inflammation; Immunity