Genomic scan for maximal oxygen uptake and its response to training in theHERITAGE Family Study

This study aimed to identify human genomic regions that are linked to maxim al oxygen uptake (V(over dot)O(2)max) in sedentary individuals or to the re sponsiveness of V(over dot)O-2max to a standardized endurance training prog ram. The results of a genomic scan based on 289 polymorphic markers coverin g all 22 pairs of autosomes performed on the Caucasian families of the HERI TAGE 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 th e study. V(over dot)O-2max in the sedentary state was adjusted for the effe cts of age, sex, body mass, fat mass, and fat-free mass, whereas the V(over dot)O-2max response was adjusted for age and baseline level of the phenoty pe. Two analytic strategies were used: a single-point linkage procedure usi ng all available pairs of siblings (SIBPAL) and a multipoint variance compo nents approach using all the family data (SEGPATH). Results indicate that l inkages at P values of 0.01 and better are observed with markers on 4q, 8q, 11p, and 14q for V(over dot)O-2max before training and with markers on Ip, 2p, 4q, 6p, and 11p for the change in V(over dot)O-2max,, in response to a 20-wk standardized endurance training program. These chromosomal regions h arbor many genes that may qualify as candidate genes for these quantitative traits. They should be investigated in this and other cohorts.