Single nucleotide polymorphisms at erythropoietin, superoxide dismutase 1, splicing factor, arginine/serin-rich 15 and plasmacytoma variant translocation genes association with diabetic nephropathy

Saudi J Kidney Dis Transpl. 2014 May;25(3):577-81. doi: 10.4103/1319-2442.132190.

Abstract

A number of genes have been identified in diabetic nephropathy. Association between diabetes-associated nephropathy and polymorphisms in the erythropoietin (EPO) gene, variants in the superoxide dismutase 1 (SOD1) gene and plasmacytoma variant translocation 1 (PVT1) gene have been identified. The EPO, SOD1:SFRS15 and PVT1 genes were genotyped using the single nucleotide polymorphism (SNP) technique in 38 diabetic nephropathy patients (Group 1) compared with 64 diabetic type 2 subjects without nephropathy (Group 2) at the Mubarak Alkabeer Hospital, Kuwait. The frequency of the risk allele T of the EPO (rs1617640) gene was high in both groups (0.96 in Group 1 and 0.92 in Group 2). Similarly, SNPs of the PVT1 (rs2720709) gene showed a higher frequency of the risk allele G in both groups (0.70 in the Group 1 and 0.68 in Group 2). Although the frequency of the risk allele A was higher than the frequency of the non-risk allele C of the SOD1:SFRS15 gene in both groups, the lowest probability value was observed in those gene SNPs (P = 0.05). We observed that the A allele of the SOD1:SFRS15 gene (rs17880135) was more frequently present in Group 1 (0.75) compared with Group 2 (0.62). Susceptibility to diabetes-associated nephropathy is partially mediated by genetic predisposition, and screening tests may open the gate for new therapeutic approaches.

MeSH terms

  • Case-Control Studies
  • Diabetic Nephropathies / genetics*
  • Erythropoietin / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Nuclear Proteins / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Proteins / genetics*
  • RNA, Long Noncoding
  • RNA-Binding Proteins / genetics*
  • Risk Factors
  • Serine-Arginine Splicing Factors
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1

Substances

  • EPO protein, human
  • Nuclear Proteins
  • PVT1 long-non-coding RNA, human
  • Proteins
  • RNA, Long Noncoding
  • RNA-Binding Proteins
  • SOD1 protein, human
  • Erythropoietin
  • Serine-Arginine Splicing Factors
  • Superoxide Dismutase
  • Superoxide Dismutase-1