BMC Genetics (Apr 2005)

Analysis of sequence variability in the <it>CART </it>gene in relation to obesity in a Caucasian population

  • Hercberg Serge,
  • Galan Pilar,
  • Bell Christopher G,
  • Vasseur-Delannoy Valérie,
  • Eberlé Delphine,
  • Clément Karine,
  • Vatin Vincent,
  • Dina Christian,
  • Vasseur Francis,
  • Barat-Houari Mouna,
  • Guérardel Audrey,
  • Helbecque Nicole,
  • Potoczna Natascha,
  • Horber Fritz F,
  • Boutin Philippe,
  • Froguel Philippe

DOI
https://doi.org/10.1186/1471-2156-6-19
Journal volume & issue
Vol. 6, no. 1
p. 19

Abstract

Read online

Abstract Background Cocaine and amphetamine regulated transcript (CART) is an anorectic neuropeptide located principally in hypothalamus. CART has been shown to be involved in control of feeding behavior, but a direct relationship with obesity has not been established. The aim of this study was to evaluate the effect of polymorphisms within the CART gene with regards to a possible association with obesity in a Caucasian population. Results Screening of the entire gene as well as a 3.7 kb region of 5' upstream sequence revealed 31 SNPs and 3 rare variants ; 14 of which were subsequently genotyped in 292 French morbidly obese subjects and 368 controls. Haplotype analysis suggested an association with obesity which was found to be mainly due to SNP-3608T>C (rs7379701) (p = 0.009). Genotyping additional cases and controls also of European Caucasian origin supported further this possible association between the CART SNP -3608T>C T allele and obesity (global p-value = 0.0005). Functional studies also suggested that the SNP -3608T>C could modulate nuclear protein binding. Conclusion CART SNP -3608T>C may possibly contribute to the genetic risk for obesity in the Caucasian population. However confirmation of the importance of the role of the CART gene in energy homeostasis and obesity will require investigation and replication in further populations.