Association between uncoupling protein 3 gene and XXXX -related phenotypes in the Qu  bec Family Study.

@entity1 @entity6344 @entity70738 @entity28 @entity70734 @entity13514 @entity70736 @entity70737 @entity70735 @entity13284 @entity413 @entity855
BACKGROUND: @entity13514 is a mitochondrial membrane transporter that is postulated to uncouple oxidative phosphorylation from @entity855 synthesis producing heat instead of @entity855 . @entity1 @entity13514 is mainly expressed in skeletal muscle, which plays an important role in energy homeostasis and substrate oxidation. Therefore, @entity13514 is a good candidate gene for @entity28 . MATERIALS AND METHODS: We analyzed, among 734 subjects from the Qu  bec Family Study, a new GA repeat microsatellite located in intervening sequence (IVS) 6 (GAIVS6) in @entity13514 gene, and two already described restriction fragment length polymorphisms (RFLP) @entity70734 ( @entity6344 ) and @entity70735 ( @entity13284 ). Covariance analysis across genotypes for different adiposity, resting energy expenditure, and @entity413 metabolism variables was undertaken with age and sex, plus body fat and body mass for nonadiposity phenotypes, as covariates. RESULTS: We found strong associations between GAIVS6 and body mass index (p = 0.0001), fat mass (p = 0.0005), percentage body fat (p = 0.0004), the sum of six skinfold thickness (p = 0.0001), and leptin level (p = 0.0001). Homozygote for the GAIVS6 240 bp alleles (15% frequency in QFS) showed higher adiposity than subjects with the GAIVS6 238 bp allele (70% in QFS). The exons, the 5' untranslated region (UTR), and the exon-intron junctions of @entity13514 gene from subjects homozygote for either GAIVS6 238 bp or 240 bp alleles were sequenced in search for mutations. Variants 5'UTR @entity70736 and @entity70734 ( @entity6344 ) were detected, whereas @entity70737 was uncovered, but no new exonic or splice junction mutation was observed. RFLP @entity70734 ( @entity6344 ) was not associated to adiposity in QFS; @entity70738 showed no variation. CONCLUSION: Our results suggest that some alleles of @entity13514 are involved in the etiology of @entity1 @entity28 .
