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

BMC Med Genet. 2012 Jul 20:13:58. doi: 10.1186/1471-2350-13-58.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Case-Control Studies
  • Chemokine CCL2 / genetics
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Immune System
  • Inflammation
  • Kidney Failure, Chronic / diagnosis*
  • Kidney Failure, Chronic / genetics*
  • Male
  • Middle Aged
  • Models, Genetic
  • Nitric Oxide Synthase Type III / genetics
  • Polymorphism, Genetic*
  • Receptors, Interleukin-4 / genetics
  • Regression Analysis
  • Retrospective Studies
  • STAT4 Transcription Factor / genetics

Substances

  • CCL2 protein, human
  • Chemokine CCL2
  • Receptors, Interleukin-4
  • STAT4 Transcription Factor
  • STAT4 protein, human
  • NOS3 protein, human
  • Nitric Oxide Synthase Type III