Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE family study

Claude Bouchard, Tuomo Rankinen, Yvon C. Chagnon, Treva Rice, Louis Pérusse, Jacques Gagnon, Ingrid Borecki, Ping An, Arthur S. Leon, James S. Skinner, Jack H. Wilmore, Michael Province, D. C. Rao

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This study aimed to identify human genomic regions that are linked to maximal oxygen uptake (V̇O(2max)) in sedentary individuals or to the responsiveness of V̇O(2max) 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. V̇O(2max) in the sedentary state was adjusted for the effects of age, sex, body mass, fat mass, and fat-free mass, whereas the V̇O(2max) 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 V̇O(2max) before training and with markers on 1p, 2p, 4q, 6p, and 11p for the change in V̇O(2max) 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.

Original languageEnglish (US)
Pages (from-to)551-559
Number of pages9
JournalJournal of Applied Physiology
Issue number2
StatePublished - Feb 2000


  • Candidate genes
  • Genetic markers
  • Linkage
  • Quantitative trait locus


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