Analysis of epistasis for diabetic nephropathy among type 2 diabetic patients

Hum Mol Genet. 2006 Sep 15;15(18):2701-8. doi: 10.1093/hmg/ddl203. Epub 2006 Aug 7.


Diabetic nephropathy (DN) is one of the most serious complications of diabetes, accounting for the majority of patients with end-stage renal disease. The molecular pathogenesis of DN involves multiple pathways in a complex, partially resolved manner. The paper presents an exploratory epistatic study for DN. Association analysis were performed on 231 SNP loci in a cohort of 264 type 2 diabetes patients, followed by the epistasis analysis using the multifactor dimensionality reduction and the genetic algorithm with Boolean algebra. A two-locus epistatic effect of EGFR and RXRG was identified, with a cross-validation consistency of 91.7%.

MeSH terms

  • Aged
  • Algorithms
  • Asian People / genetics
  • Case-Control Studies
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetic Nephropathies / etiology
  • Diabetic Nephropathies / genetics*
  • Epistasis, Genetic*
  • Female
  • Genes, erbB-1
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Retinoid X Receptor gamma / genetics
  • Taiwan


  • Retinoid X Receptor gamma