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

BMC Medical Genetics

Research Article

Elisabeth López¹  María Heredia¹  Eduardo Tamayo¹  José I Gómez-Herreras¹  Jesús Bustamante²  Laura Segura-Roda³  Juan Miguel García-Gómez³  Amanda Fernandez-Rodríguez⁴  Salvador Resino⁴  Ma Angeles Jimenez-Sousa⁴  Jesús F Bermejo-Martin⁵  Pablo Fernández-Navarro⁶ 

[1] Departamento de Anestesiología y Reanimación, Hospital Clínico Universitario, Valladolid, Spain;Departamento de Nefrología, Hospital Clínico Universitario, Valladolid, Spain;IBIME, Instituto de Aplicaciones de las Tecnologías de la Información y de las Comunicaciones Avanzadas (ITACA), Universitat Politècnica de València, València, Spain;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;Unidad de Investigación Médica en Infección e Inmunidad, Hospital Clínico Universitario-IECSCYL, Valladolid, Spain;Área de Epidemiología Ambiental y Cáncer Unit. Centro Nacional de Epidemiología, Instituto de Salud Carlos III, Madrid, Spain;CIBER Epidemiología y Salud Pública (CIBERESP), Barcelona, Spain;

关键词: ESRD;    Kidney;    Genetic polymorphism;    Inflammation;    Immunity;   

DOI  :  10.1186/1471-2350-13-58

 received in 2012-01-30, accepted in 2012-07-20,  发布年份 2012

来源: Springer

【 摘 要 】

BackgroundChronic 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.ObjectiveTo investigate whether single nucleotide polymorphisms (SNPs) located in genes related to immune and inflammatory processes, could be associated with ESRD development.Design and methodsA 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.ResultsFour 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.ConclusionOur 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.

【 授权许可】

Unknown   
© Jiménez-Sousa et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.