Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population
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Volume
6
Publisher
Publisher URL
DOI
10.1186/1471-2156-6-19
Journal
BMC GENETICS
ISSN
1471-2156
Metadata
Show full item recordAbstract
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.