Molecular genetic analysis of a human insulin-like growth factor 1 promoter P1 variation

FASEB J. 2009 May;23(5):1303-13. doi: 10.1096/fj.08-116863. Epub 2008 Dec 22.

Abstract

Insulin-like growth factor 1 (IGF1) exerts important endocrine and paracrine functions in the cardiovascular system. We identified the common variant -1411C>T in the IGF1 upstream promoter P1, located within several overlapping transcription factor binding sites. Using transient transfection assays, we identified this site as a functional enhancer. The T allele-carrying enhancer, compared with the C allelic portion, exerts significantly reduced or even abrogated activity, respectively, in SaOs-2 and HepG2 (all P<0.0001) as well as in differentiated THP-1 macrophages. Electrophoretic mobility shift assay and subsequent supershift experiments in HepG2 identified c-Jun as the binding partner exclusively to the T allele, whereas CCAAT/enhancer-binding protein delta and interferon consensus site-binding protein/interferon-regulating factor 8 interacted only with the C allelic promoter portion. Furthermore, genotyping in a case-control study for essential hypertension (n=745 hypertensive patients; n=769 normotensive control subjects) for this variant revealed an odds ratio for hypertension of 0.73 (95% confidence interval 0.58-0.91, P=0.006) associated with the T allele, and normotensive subjects carrying the protective T allele displayed a significant decrease in diastolic (P=0.036) and systolic (P=0.024) blood pressure levels. We here report detection of a functional enhancer module in the upstream IGF1 promoter region, which might play a key role in local IGF1 bioavailability. Whether -1411C>T is also associated with other IGF1-related disease phenotypes should be evaluated further in population studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • CCAAT-Enhancer-Binding Protein-delta / genetics
  • Cell Line, Tumor
  • Cells, Cultured
  • Computational Biology
  • Consensus Sequence
  • Enhancer Elements, Genetic / genetics
  • Female
  • Humans
  • Hypertension / genetics
  • Insulin-Like Growth Factor I / genetics*
  • Interferon Regulatory Factors / genetics
  • Male
  • Middle Aged
  • Promoter Regions, Genetic*
  • Transcription, Genetic / physiology

Substances

  • Interferon Regulatory Factors
  • interferon regulatory factor-8
  • CCAAT-Enhancer-Binding Protein-delta
  • Insulin-Like Growth Factor I