PMID- 10574510 OWN - NLM STAT- MEDLINE DCOM- 19991202 LR - 20191103 IS - 1071-7323 (Print) IS - 1071-7323 (Linking) VI - 7 IP - 6 DP - 1999 Nov TI - Sequence variants in the human cocaine and amphetamine-regulated transcript (CART) gene in subjects with early onset obesity. PG - 532-6 AB - OBJECTIVE: The cocaine and amphetamine-regulated transcript (CART) is expressed in the brain of rodents and humans, and intracerebroventricular injection of the peptide in rats reduces food intake. The objective of the present study was to chromosomally map the CART gene and to examine the coding region of the gene for variability in obese subjects. METHODS: The coding region of the CART gene was analyzed by single-strand conformation polymorphism analysis in 84 subjects with early onset obesity. The prevalence of identified mutations was estimated in a cohort of 757 subjects with juvenile onset obesity [body mass index (BMI) = 35.7+/-5.7 kg/m2+/-standard deviation (S)] and in 890 random control subjects (BMI = 26.1+/-3.6 kg/m2+/-S). Furthermore, using radiation hybrid mapping we mapped the chromosomal localization of the human CART gene. RESULTS: Radiation hybrid mapping co-localized the CART gene with a recently published human obesity locus at chromosome 5q13-14 corresponding also to an obesity locus at the similar syntenic region in mice. We identified two silent polymorphisms in the 3'UTR region of the gene (position 1457 deletion of A and position 1475 A-->G substitution) and the prevalence of these was determined among obese and control subjects. However, none of the variants were associated with either obesity or weight gain during an average follow-up period of 27.4+/-8.4 years (S). CONCLUSION: Mutations in the coding region of the CART gene are unlikely to be involved in body weight control in Danish Caucasians with early onset obesity. FAU - Echwald, S M AU - Echwald SM AD - Steno Diabetes Center and Hagedorn Research Institute, Copenhagen, Denmark. sme@hagedorn.dk FAU - Sorensen, T I AU - Sorensen TI FAU - Andersen, T AU - Andersen T FAU - Hansen, C AU - Hansen C FAU - Tommerup, N AU - Tommerup N FAU - Pedersen, O AU - Pedersen O LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Obes Res JT - Obesity research JID - 9305691 RN - 0 (Nerve Tissue Proteins) RN - 0 (cocaine- and amphetamine-regulated transcript protein) SB - IM MH - Adolescent MH - Adult MH - Body Mass Index MH - Chromosome Mapping MH - Chromosomes, Human, Pair 5 MH - Cohort Studies MH - Denmark MH - Genotype MH - Humans MH - Male MH - *Mutation MH - Nerve Tissue Proteins/*genetics MH - Obesity/*genetics MH - Polymerase Chain Reaction MH - Polymorphism, Single-Stranded Conformational MH - Weight Gain EDAT- 1999/11/26 00:00 MHDA- 1999/11/26 00:01 CRDT- 1999/11/26 00:00 PHST- 1999/11/26 00:00 [pubmed] PHST- 1999/11/26 00:01 [medline] PHST- 1999/11/26 00:00 [entrez] AID - 10.1002/j.1550-8528.1999.tb00710.x [doi] PST - ppublish SO - Obes Res. 1999 Nov;7(6):532-6. doi: 10.1002/j.1550-8528.1999.tb00710.x.