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J Appl Physiol 88: 551-559, 2000;
8750-7587/00 $5.00
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Vol. 88, Issue 2, 551-559, February 2000

Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE Family Study*

Claude Bouchard1, Tuomo Rankinen1, Yvon C. Chagnon2, Treva Rice3, Louis Pérusse2, Jacques Gagnon2, Ingrid Borecki3, Ping An3, Arthur S. Leon4, James S. Skinner5, Jack H. Wilmore6, Michael Province3, and D. C. Rao3,7

1 Pennington Biomedical Research Center, Louisiana State University, Baton Rouge, Louisiana 70808-4124; 2 Physical Activity Sciences Laboratory, Laval University, Québec, Canada G1K 7P4; 3 Division of Biostatistics and 7 Departments of Genetics and Psychiatry, Washington University Medical School, St. Louis, Missouri 63110; 4 School of Kinesiology and Leisure Studies, University of Minnesota, Minneapolis, Minnesota 55455; 5 Department of Kinesiology, Indiana University, Bloomington, Indiana 47405; and 6 Department of Health and Kinesiology, Texas A&M University, College Station, Texas 77843-4243

This study aimed to identify human genomic regions that are linked to maximal oxygen uptake (VO2 max) in sedentary individuals or to the responsiveness of VO2 max to a standardized endurance training program. The results of a genomic scan based on 289 polymorphic markers covering all 22 pairs of autosomes performed on the Caucasian families of the HERITAGE Family Study are presented. The mean spacing of the markers was 11 cM, and a total of 99 families and 415 pairs of siblings were available for the study. VO2 max in the sedentary state was adjusted for the effects of age, sex, body mass, fat mass, and fat-free mass, whereas the VO2 max response was adjusted for age and baseline level of the phenotype. Two analytic strategies were used: a single-point linkage procedure using all available pairs of siblings (SIBPAL) and a multipoint variance components approach using all the family data (SEGPATH). Results indicate that linkages at P values of 0.01 and better are observed with markers on 4q, 8q, 11p, and 14q for VO2 max before training and with markers on 1p, 2p, 4q, 6p, and 11p for the change in VO2 max in response to a 20-wk standardized endurance training program. These chromosomal regions harbor many genes that may qualify as candidate genes for these quantitative traits. They should be investigated in this and other cohorts.

genetic markers; quantitative trait locus; linkage; candidate genes


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