Repository logo

Infoscience

  • English
  • French
Log In
Logo EPFL, École polytechnique fédérale de Lausanne

Infoscience

  • English
  • French
Log In
  1. Home
  2. Academic and Research Output
  3. Journal articles
  4. Study of a new PPARgamma2 promoter polymorphism and haplotype analysis in a French population
 
research article

Study of a new PPARgamma2 promoter polymorphism and haplotype analysis in a French population

Meirhaeghe, Aline
•
Tanck, Michael W T
•
Fajas, Lluis
Show more
2005
Molecular genetics and metabolism

Peroxisome proliferator-activated receptor-gamma (PPARgamma) plays a role in adipocyte differentiation and insulin sensitization. We identified and characterized a new C/T substitution at position -689 (-689C>T) in the P2 promoter of PPARgamma in a putative GATA binding site. By electrophoretic mobility shift assay, both GATA2 and GATA3 proteins could bind weakly to the wild-type P2 -689 GATA binding site but not to the mutated site. Neither GATA2 nor GATA3 was able to regulate significantly the P2 promoter activity in a reporter-luciferase assay, whatever the allele at position -689 was, suggesting that the -689 putative GATA site was probably not a functional target for GATAs. However, the presence of the -689T allele rendered the P2 promoter less active at the basal state. We genotyped a population of 1155 men and women for the -689C>T polymorphism and looked for possible associations with anthropometric and lipid variables. The carriers of the -689T allele had elevated body weight and LDL-cholesterol concentrations compared with the homozygous for the common allele. Haplotype analyses including the -681C>G (P3 promoter), -689C>T (P2 promoter), and Pro12Ala (exon B) polymorphisms were performed. Carriers of the G-T-Ala haplotype (corresponding to the P3 -681C>G, P2 -689C>T and Pro12Ala polymorphisms in this order) had elevated LDL-cholesterol concentrations and body weight compared with C-C-Pro individuals. In conclusion, we identified a new polymorphism in the P2 promoter of PPARgamma. The P3 -681C>G, P2 -689C>T, and Pro12Ala polymorphisms and related haplotypes were associated with higher body weight and plasma LDL-cholesterol concentrations.

  • Details
  • Metrics
Type
research article
DOI
10.1016/j.ymgme.2005.02.004
PubMed ID

15896659

Author(s)
Meirhaeghe, Aline
Tanck, Michael W T
Fajas, Lluis
Janot, Caroline
Helbecque, Nicole
Cottel, Dominique
Auwerx, Johan  
Amouyel, Philippe
Dallongeville, Jean
Date Issued

2005

Published in
Molecular genetics and metabolism
Volume

85

Issue

2

Start page

140

End page

8

Subjects

Haplotypes

•

Linkage Disequilibrium

•

Polymorphism

•

Genetic

•

Promoter Regions

•

Genetic

Editorial or Peer reviewed

REVIEWED

Written at

OTHER

EPFL units
LISP  
Available on Infoscience
April 2, 2009
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/36691
Logo EPFL, École polytechnique fédérale de Lausanne
  • Contact
  • infoscience@epfl.ch

  • Follow us on Facebook
  • Follow us on Instagram
  • Follow us on LinkedIn
  • Follow us on X
  • Follow us on Youtube
AccessibilityLegal noticePrivacy policyCookie settingsEnd User AgreementGet helpFeedback

Infoscience is a service managed and provided by the Library and IT Services of EPFL. © EPFL, tous droits réservés