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J Appl Physiol 93: 1000-1006, 2002. First published May 10, 2002; doi:10.1152/japplphysiol.00254.2002
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Vol. 93, Issue 3, 1000-1006, September 2002

Major gene effects on exercise ventilatory threshold: the HERITAGE Family Study

Mary F. Feitosa1, Steven E. Gaskill2, Treva Rice1, Tuomo Rankinen3, Claude Bouchard3, D. C. Rao1,4, Jack H. Wilmore5, James S. Skinner6, and Arthur S. Leon7

1 Division of Biostatistics, and 4 Departments of Genetics and Psychiatry, Washington University School of Medicine, Saint Louis, Missouri 63110; 2 Department of Health and Human Performance, Human Performance Laboratory, University of Montana, Missoula, Montana 59812; 3 Pennington Biomedical Research Center, Louisiana State University, Baton Rouge, Louisiana 70808; 5 Department of Health and Kinesiology, Texas A&M University, College Station, Texas 77843; 6 Department of Kinesiology, Indiana University, Bloomington, Indiana 46405; 7 School of Kinesiology and Leisure Studies, University of Minnesota, Minneapolis, Minnesota 55455

This study investigates whether there are major gene effects on oxygen uptake at the ventilatory threshold (VO2VT) and the VO2VT maximal oxygen uptake (VT%VO2 max), at baseline and in response to 20 wk of exercise training by using data on 336 whites and 160 blacks. Segregation analysis was performed on the residuals of VO2VT and VT%VO2 max. In whites, there was strong evidence of a major gene, with 3 and 2% of the sample in the upper distribution, that accounted for 52 and 43% of the variance in baseline VO2VT and VT%VO2 max, respectively. There were no genotype-specific covariate effects (sex, age, weight, fat mass, and fat-free mass). The segregation results were inconclusive for the training response in whites, and for the baseline and training response in blacks, probably due to insufficient power because of reduced sample sizes or smaller gene effect or both. The strength of the genetic evidence for VO2VT and VT%VO2 max suggests that these traits should be further investigated for potential relations with specific candidate genes, if they can be identified, and explored through a genome-wide scan.

segregation analysis; heritability; familial aggregation; oxygen uptake at ventilatory threshold; maximal oxygen uptake


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