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Genomics and Genetics in the Biology of Adaptation to Exercise

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Abstract

This article is devoted to the role of genetic variation and gene‐exercise interactions in the biology of adaptation to exercise. There is evidence from genetic epidemiology research that DNA sequence differences contribute to human variation in physical activity level, cardiorespiratory fitness in the untrained state, cardiovascular and metabolic response to acute exercise, and responsiveness to regular exercise. Methodological and technological advances have made it possible to undertake the molecular dissection of the genetic component of complex, multifactorial traits, such as those of interest to exercise biology, in terms of tissue expression profile, genes, and allelic variants. The evidence from animal models and human studies is considered. Data on candidate genes, genome‐wide linkage results, genome‐wide association findings, expression arrays, and combinations of these approaches are reviewed. Combining transcriptomic and genomic technologies has been shown to be more powerful as evidenced by the development of a recent molecular predictor of the ability to increase o2max with exercise training. For exercise as a behavior and physiological fitness as a state to be major players in public health policies will require that the role of human individuality and the influence of DNA sequence differences be understood. Likewise, progress in the use of exercise in therapeutic medicine will depend to a large extent on our ability to identify the favorable responders for given physiological properties to a given exercise regimen. © 2011 American Physiological Society. Compr Physiol 1:1603‐1648, 2011.

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Figure 1. Figure 1.

An example of a basic univariate genetic path model in monozygotic (MZ) and dizygotic (DZ) twins.

Figure 2. Figure 2.

Comparison of distances run by the 11 inbred strains of rats. From Barbato et al. .

Reproduced, with permission, from the American Physiological Society.
Figure 3. Figure 3.

Family lines with low and high o2max phenotypes in the sedentary state based on data from the HERITAGE Family Study. FM, fat mass; FFM, fat‐free mass. From Bouchard et al. .

Reproduced, with permission, from Wolters Kluwer Health.
Figure 4. Figure 4.

Human variation in vastus lateralis percent type I fibers among sedentary adults. Adapted from Simoneau and Bouchard .

Reproduced, with permission, from the American Physiological Society.
Figure 5. Figure 5.

Estimates of sources of causal variation in proportion of type I fibers in human skeletal muscle among sedentary people.

Reproduced, with permission, from Simoneau and Bouchard .
Figure 6. Figure 6.

Distribution of training responses in o2max in individuals of the HERITAGE Family Study. From Bouchard and Rankinen .

Reproduced, with permission, from Wolters Kluwer Health.
Figure 7. Figure 7.

The individual changes in heart rate and stroke volume at 50 W and at 60% of o2max on cycle ergometer tests before and after 20 weeks of exercise training. These subjects were Blacks and Whites of the HERITAGE Family Study. From Bouchard and Rankinen .

Reproduced, with permission, from Wiley‐Blackwell.
Figure 8. Figure 8.

Training changes in o2max among 10 pairs of MZ twins subjected to a standardized 20‐week exercise training program. Adapted from Prud'homme et al. .

Reproduced from Bouchard et al. . Reproduced, with permission, from Wolters Kluwer Health.
Figure 9. Figure 9.

Familial aggregation of o2max changes in response to exercise training in the sample of Whites of the HERITAGE Family Study. From Bouchard et al. .

Reproduced, with permission, from the American Physiological Society.
Figure 10. Figure 10.

The main classes of small‐scale mutations.

Figure 11. Figure 11.

Angiotensin‐converting enzyme (ACE) I/D polymorphism is associated with left ventricular mass training response.

Reproduced, with permission, from Rankinen and Bouchard . Adapted from (A) Montgomery et al. , and (B) Myerson et al. .
Figure 12. Figure 12.

Positional cloning of a HR50 training response QTL on chromosome 2q34 in the HERITAGE Family Study. From Rankinen et al. .

Reproduced, with permission, from Wolters Kluwer Health.


Figure 1.

An example of a basic univariate genetic path model in monozygotic (MZ) and dizygotic (DZ) twins.



Figure 2.

Comparison of distances run by the 11 inbred strains of rats. From Barbato et al. .

Reproduced, with permission, from the American Physiological Society.


Figure 3.

Family lines with low and high o2max phenotypes in the sedentary state based on data from the HERITAGE Family Study. FM, fat mass; FFM, fat‐free mass. From Bouchard et al. .

Reproduced, with permission, from Wolters Kluwer Health.


Figure 4.

Human variation in vastus lateralis percent type I fibers among sedentary adults. Adapted from Simoneau and Bouchard .

Reproduced, with permission, from the American Physiological Society.


Figure 5.

Estimates of sources of causal variation in proportion of type I fibers in human skeletal muscle among sedentary people.

Reproduced, with permission, from Simoneau and Bouchard .


Figure 6.

Distribution of training responses in o2max in individuals of the HERITAGE Family Study. From Bouchard and Rankinen .

Reproduced, with permission, from Wolters Kluwer Health.


Figure 7.

The individual changes in heart rate and stroke volume at 50 W and at 60% of o2max on cycle ergometer tests before and after 20 weeks of exercise training. These subjects were Blacks and Whites of the HERITAGE Family Study. From Bouchard and Rankinen .

Reproduced, with permission, from Wiley‐Blackwell.


Figure 8.

Training changes in o2max among 10 pairs of MZ twins subjected to a standardized 20‐week exercise training program. Adapted from Prud'homme et al. .

Reproduced from Bouchard et al. . Reproduced, with permission, from Wolters Kluwer Health.


Figure 9.

Familial aggregation of o2max changes in response to exercise training in the sample of Whites of the HERITAGE Family Study. From Bouchard et al. .

Reproduced, with permission, from the American Physiological Society.


Figure 10.

The main classes of small‐scale mutations.



Figure 11.

Angiotensin‐converting enzyme (ACE) I/D polymorphism is associated with left ventricular mass training response.

Reproduced, with permission, from Rankinen and Bouchard . Adapted from (A) Montgomery et al. , and (B) Myerson et al. .


Figure 12.

Positional cloning of a HR50 training response QTL on chromosome 2q34 in the HERITAGE Family Study. From Rankinen et al. .

Reproduced, with permission, from Wolters Kluwer Health.
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Claude Bouchard, Tuomo Rankinen, James A. Timmons. Genomics and Genetics in the Biology of Adaptation to Exercise. Compr Physiol 2011, 1: 1603-1648. doi: 10.1002/cphy.c100059