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The human gene map for performance and health-related fitness phenotypes. Med. Sci. Sports Exerc., Vol. 33, No. 6, 2001, pp. 855–867. The aim of this paper is to describe the first human gene map for physical performance and health-related fitness traits based on the papers published until the end of 2000. Studies of candidate genes using case-control and other designs are reviewed. Quantitative trait loci from the limited evidence reported to date in genomic scans are also incorporated. Performance and fitness phenotypes in the sedentary state as well as their changes during exercise, if applicable, or in response to exercise training are considered. Physical performance traits include cardiorespiratory endurance indicators and muscular strength or muscular performance variables. Health-related fitness phenotypes are grouped under the following categories hemodynamic traits; anthropometry and body composition; insulin and glucose metabolism; and lipids, lipoproteins, and hemostatic factors. A yearly update of this human gene map will be published.

PÉRUSSE, L., J. GAGNON, M. A. PROVINCE, D. C. RAO, J. H. WILMORE, A. S. LEON, C. BOUCHARD, and J. S. SKINNER. Familial aggregation of submaximal aerobic performance in the HERITAGE Family study. Med. Sci. Sports Exerc., Vol. 33, No. 4, 2001, pp. 597–604.

Linkage between a muscle-specific CK gene marker and O2maxin the HERITAGE Family Study. Med. Sci. Sports Exerc.,Vol. 31, No. 5, pp. 698-701, 1999.

An extensive search for linkage between DNA markers and the response ofVO2maxto training has recently been launched in the HERITAGE Family Study. This is the first report on a genome-wide search strategy to locate chromosomal regions and positional candidate genes for cardiorespiratory endurance phenotypes. Linkage between seven markers spanning chromosome 22 spaced approximately 10 cM apart (D22S264, D22S274, D22S301, D22S304, D22S421, IL2RB, and PDGFB) and VO2maxat baseline, as well as its response to endurance exercise training, was examined using the sib-pair linkage method. Markers were genotyped in at least 210 sib-pairs derived from 128 adult brothers (25 ± 6 yr; mean ± SD) and 138 sisters (24 ± 6 yr) from 86 Caucasian families. VO2max, maximal heart rate, and maximal oxygen pulse were measured during stationary cycle tests before and after a standardized 20-wk endurance training program. On average, the initial VO2maxwas 2654 ± 767 mL·min-1while training increased VO2maxsignificantly by 430 ± 239 mL·min-1or 16% (P< 0.0001). The VO2maxresponse was adjusted for age and initialVO2max. No evidence of linkage was found between any of these markers on chromosome 22 and VO2maxor its trainability.

This study examined the association between a DNA polymorphism in the muscle-specific creatine kinase (CKMM) gene and VO2maxin the sedentary state, as well as its response (ΔVO2max) to a standardized 20-wk endurance training program. The subjects were 160 biologically unrelated Caucasian parents (80 women, 80 men) and 80 biologically unrelated adult offspring of the HERITAGE Family Study. The CKMM polymorphism was detected by PCR and digestion with the NcoIrestriction enzyme. VO2maxwas measured during maximal cycle ergometer tests. VO2maxwas 2119 ± 45 mL·min-1(mean ± SE) or 26 ± 0.4 mL·kg-1·min-1. Both sexes had a significant(P< 0.05) increase in the ΔVO2max(women = 283± 20 mL·min-1and men = 363 ± 25 mL·min-1). Allele and genotype frequencies were not significantly different (P> 0.05) between sexes. Age and sex adjusted VO2maxwas significantly (P= 0.007) associated with the CKMM genotype in the parents, whereas no association (P> 0.05) was observed in the offspring. ΔVO2maxvalues adjusted for age, sex, VO2max, and body mass were characterized by genotype differences in both parents (P= 0.0004) and offspring(P= 0.0025). A significantly (P< 0.05) lowerΔVO2maxto endurance training was detected in both parents and offspring homozygotes for the rare allele. The genotype accounted for at least 9% of the variance in ΔVO2max. These results indicate that the NcoIpolymorphism in the 3′ untranslated region of the muscle-specific creatine kinase gene is associated with theΔVO2maxto endurance training.

This study investigates the familial resemblance of maximal oxygen uptake(VO2max) based on data from 86 nuclear families of Caucasian descent participating in the HERITAGE Family Study. In the current study,VO2maxwas measured twice on a cycle ergometer in 429 sedentary individuals (170 parents and 259 of their offspring), aged between 16 and 65 yr. The VO2maxwas adjusted by regression procedures for the effects of 1) age and sex; 2) age, sex, and body mass; and 3) age, sex, body mass, fat mass, and fat-free mass, as determined by underwater weighing. Evidence for significant familial resemblance was observed for each of the three VO2maxphenotypes. Spouse, sibling, and parent-offspring correlations were significant, suggesting that both genetic and environmental factors contribute to the familial resemblance for VO2max. Maximal heritability estimates were at least 50%, a value inflated to an undetermined degree by nongenetic factors. The hypothesis of maternal inheritance, with the father's contribution being environmental, was also found to fit the data with estimates of maternal heritability, potentially associated in part with mitochondrial inheritance, reaching about 30%. These results suggest that genetic and nongenetic factors as well as maternal influences contribute to the familial aggregation of VO2maxin sedentary individuals.