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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2012

Open Access 01-12-2012 | Research article

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

Authors: Ma Angeles Jimenez-Sousa, Elisabeth López, Amanda Fernandez-Rodríguez, Eduardo Tamayo, Pablo Fernández-Navarro, Laura Segura-Roda, María Heredia, José I Gómez-Herreras, Jesús Bustamante, Juan Miguel García-Gómez, Jesús F Bermejo-Martin, Salvador Resino

Published in: BMC Medical Genetics | Issue 1/2012

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Abstract

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.
Appendix
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Metadata
Title
Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study
Authors
Ma Angeles Jimenez-Sousa
Elisabeth López
Amanda Fernandez-Rodríguez
Eduardo Tamayo
Pablo Fernández-Navarro
Laura Segura-Roda
María Heredia
José I Gómez-Herreras
Jesús Bustamante
Juan Miguel García-Gómez
Jesús F Bermejo-Martin
Salvador Resino
Publication date
01-12-2012
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2012
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-13-58

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