A complete genomic analysis of the apolipoprotein E gene in Chinese patients with lipoprotein glomerulopathy

J Nephrol. 2007 Sep-Oct;20(5):568-75.

Abstract

Mutations of the apolipoprotein E (apo E) gene are thought to play an etiological role in lipoprotein glomerulopathy (LPG), a novel kidney disease. Evidence suggesting that mutated forms of apo E may be present in LPG includes elevated plasma concentrations of apo E in LPG patients and deposition of apo E in their glomerular capillaries, and there are published reports indicating that mutations of the apo E gene are present in the Japanese LPG patient population. Conflicting reports, however, exist in the current literature. Therefore, to strengthen the theory that apo E gene mutations may be present in LPG pathogenesis, we chose to examine the 5.5 kb genomic DNA encompassing the entire apo E locus and adjoining flanking regions, in 17 Chinese LPG patients and 10 normal controls. Results suggest that there are no apo E gene mutations present in our LPG patients, including previously reported apo E mutations associated with LPG. Surprisingly, however, when the apo E sequence used in the current study was compared against the apo E gene sequence published in GenBank, 10 ethnic variation sites were identified in the noncoding regions. We therefore conclude that apo E gene mutations may not be the only etiology of LPG, and it is likely that other abnormalities could play a role in the pathogenesis of the disease.

MeSH terms

  • Adolescent
  • Adult
  • Apolipoproteins E / genetics*
  • Apolipoproteins E / metabolism
  • Asian People / genetics*
  • Capillaries / metabolism
  • Case-Control Studies
  • Child
  • China
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Genomics*
  • Humans
  • Kidney Diseases / genetics*
  • Kidney Diseases / metabolism
  • Kidney Glomerulus / blood supply*
  • Male
  • Middle Aged
  • Mutation*
  • Phenotype
  • Risk Factors

Substances

  • Apolipoproteins E