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Linkage and Association of the Sodium Potassium-Adenosine Triphosphatase 2 and ß1 Genes with Respiratory Quotient and Resting Metabolic Rate in the Québec Family Study¹

Physical Activity Sciences Laboratory (P.T.K., T.R., L.P., O.D., A.T., C.B.), Laval University, Ste-Foy, Quebec G1K 7P4, Canada; Department of Kinesiology and Health Science (P.T.K.), York University, North York, Ontario M3J 1P3, Canada; and Division of Biostatistics (I.B., D.C.R.) and Departments of Psychiatry and Genetics (D.C.R.), Washington University School of Medicine, St. Louis, Missouri 63110

Address all correspondence and requests for reprints to: Dr. Claude Bouchard, Physical Activity Sciences Laboratory, Division of Kinesiology, Department of Social and Preventive Medicine, PEPS, Laval University, Ste-Foy, Québec G1K 7P4, Canada. E-mail: claude.bouchard{at}kin.msp.ulaval.ca

The purpose of this study was to examine the relationship between the 2 (exon 1 and exon 21–22 with BglII) and ß1 (MspI and PvuII) genes of the sodium potassium adenosine triphosphatase and resting metabolic rate (RMR) and respiratory quotient (RQ). The sample included 582 participants from 171 families of the Québec Family Study. RMR and RQ were adjusted for age, sex, fat mass, and fat free mass. Sib-pair analyses indicated a significant linkage between RQ and the 2 exon 1 marker (P = 0.03) and the 2 exon 21–22 marker (P = 0.02). No linkage was detected between the ß1 markers and either RMR or RQ, whereas RMR was not linked with the 2 makers. There was a significant interaction (P < 0.0003) between 2 exon 1 carrier status and age group [younger (<45 yr) vs. older (45 yr) adults] for RQ. The association between carrier status and RQ was significant in younger adults (RQ = 0.76 in carriers vs. 0.80 in noncarriers, P < 0.0001) but was not in older adults (RQ = 0.81 in carriers vs. 0.80 in noncarriers). The 2 exon 1 gene accounted for approximately 9.1% and 0.3% of the variance in RQ in younger and older adults, respectively. The results suggest that the sodium potassium adenosine triphosphatase 2 gene may play a role in fuel oxidation, particularly in younger individuals.

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