Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene

FEBS Lett. 1998 Jan 9;421(2):105-8. doi: 10.1016/s0014-5793(97)01543-3.


In this work, we explored the existence of genetic variants within the apolipoprotein E gene transcriptional regulatory region, using a denaturing gradient gel electrophoresis screening of a region comprising nucleotides -1017 to +406. Upon a population study, three new polymorphic sites (-491, -427 and -219) and two mutations were found. Functional effects of the polymorphisms, assayed by transient transfection and electrophoretic mobility shift assays in a human hepatoma cell line, showed that polymorphisms at sites -491 and -219 of the APOE promoter produce variations in the transcriptional activity of the gene, most probably through differential binding of nuclear proteins.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles*
  • Apolipoproteins E / genetics*
  • Child
  • Child, Preschool
  • Electrophoresis, Polyacrylamide Gel
  • Gene Frequency
  • Genotype
  • Humans
  • Infant
  • Middle Aged
  • Nuclear Proteins / metabolism
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Promoter Regions, Genetic*
  • Transcription, Genetic*
  • Tumor Cells, Cultured


  • Apolipoproteins E
  • Nuclear Proteins

Associated data

  • GENBANK/AF055343