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Quantitative trait loci for maximal exercise capacity phenotypes and their responses to training in the HERITAGE Family Study

¹ Pennington Biomedical Research Center, Human Genomics Laboratory, Baton Rouge, Louisiana 70808
² Division of Biostatistics, Washington University School of Medicine, St. Louis, Missouri 63110-1093
³ Division of Kinesiology, University of Minnesota, Minneapolis, Minnesota 55455
⁴ Department of Kinesiology, Indiana University, Bloomington, Indiana 46405
⁵ Departments of Health and Kinesiology, Texas A & M University, College Station, Texas 77843-4243
⁶ Departments of Genetics and Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110-1093

The purpose of this study was to identify regions of the human genome linked to maximal oxygen uptake (O_{2 max}) and maximal power output (MPO), and their response to a standardized 20-wk endurance-training program in sedentary black and white subjects. A total of 509 polymorphic markers covering the 22 autosomes were used in the genome-wide linkage scan. Baseline phenotypes were adjusted for age, sex, and body mass, whereas the training responses were adjusted for age, sex, and the baseline values. Regression-based single- and multipoint linkage analyses were used. In the sedentary state, a total of 351 and 102 sibling pairs were available for whites and blacks, respectively, and 329 and 90 sibling pairs, respectively, for the training response phenotypes. Baseline O_{2 max} showed promising linkage (P < 0.0023) with 11p15.1 (whites), and suggestive evidence of linkage (0.01 > P > 0.0023) was found on 1p31, 7q32, and 7q36 (blacks). Baseline MPO exhibited promising linkage on 10q23 and suggestive evidence of linkage on 13q33 and 18q11-q12 (whites). O_{2 max} training response yielded promising linkages with markers on 1p31 (blacks) and suggestive on 4q27, 7q34, and 13q12 (whites) and on 16q22 and 20q13.1 (blacks). Training-induced changes in MPO showed promising linkages on 5q23 (whites) and suggestive on 1q21, 4p15.1, and 4p13 (whites) and on 1q22 and 13q11 (blacks). In conclusion, the strongest evidence of linkage was found on chromosomal regions 11p15 and 10q23 for O_{2 max} and MPO in the sedentary state and on chromosomes 1p31 and 5q23 for their responsiveness to training. These chromosomal regions harbor several candidate genes that deserve further investigation.

aerobic power; candidate genes; endurance capacity

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