Journal Article

Linkage Between Markers in the Vicinity of the Uncoupling Protein 2 Gene and Resting Metabolic Rate in Humans

Claude Bouchard, Louis Pérusse, Yvon C. Chagnon, Craig Warden and Daniel Ricquier

in Human Molecular Genetics

Volume 6, issue 11, pages 1887-1889
Published in print October 1997 | ISSN: 0964-6906
Published online October 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.11.1887
Linkage Between Markers in the Vicinity of the Uncoupling Protein 2 Gene and Resting Metabolic Rate in Humans

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The recent cloning of a gene that codes for a novel uncoupling protein, UCP2, which is expressed in a wide range of adult human tissues, has raised the possibility that it may be involved in regulation of energy balance. To explore this concept we have investigated potential linkage relationships between three microsatellite markers which encompass the UCP2 gene location on 11q13 with resting metabolic rate (RMR), body mass index, percentage body fat (%FAT) and fat mass (FM) in 640 individuals from 155 pedigrees from the Québec Family Study. Using a linkage analysis strategy based on sibling, avuncular, grandparental and cousin pairs, strong evidence of linkage was found between the marker D11S911 (P = 0.000002) and RMR, with more moderate evidence for D11S916 (P = 0.006) and D11S1321 (P = 0.02). Suggestive evidence of linkage was also observed between D11S1321 and %FAT (P= 0.04) and FM (P= 0.02). It is concluded that the three markers encompassing the UCP2 locus and spanning a 5 cM region on 11q13 are linked to resting energy expenditure in adult humans. The evidence is strong enough to warrant a search for DNA sequence variation in the gene itself.

Journal Article.  1839 words.  Illustrated.

Subjects: Genetics and Genomics

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