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The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2002 Update


Medicine & Science in Sports & Exercise: August 2003 - Volume 35 - Issue 8 - pp 1248-1264
Special Report

PÉRUSSE, L., T. RANKINEN, R. RAURAMAA, M. A. RIVERA, B. WOLFARTH, and CLAUDE BOUCHARD. The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2002 Update. Med. Sci. Sports Exerc., Vol. 35, No. 8, pp. 1248–1264, 2003. This review presents the 2002 update of the human gene map for physical performance and health-related phenotypes. It is based on peer-reviewed papers published by the end of 2002 and includes association studies with candidate genes, genome-wide scans with polymorphic markers, and single gene defects causing exercise intolerance to variable degrees. The genes and markers with evidence of association or linkage with a performance or fitness phenotype in sedentary or active people, in adaptation to acute exercise, or for training-induced changes are positioned on the genetic map of all autosomes and the X chromosome. Negative studies are reviewed, but a gene or locus must be supported by at least one positive study before being inserted on the map. By the end of 2000, 29 loci were depicted on the map. The 2001 map includes 71 loci on the autosomes and two on the X chromosome. In contrast, the 2002 human gene map for physical performance and health-related phenotypes includes 90 gene entries and QTL, plus two on the X chromosome. To all these loci, one must add 14 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes.

This paper constitutes the third installment in the series on the human gene map for performance and health-related fitness phenotypes. It covers the peer-reviewed literature published by the end of December 2002. The search for relevant publications is primarily based on the journals in MEDLINE, the National Library of Medicine’s publication database covering the fields of life sciences, biomedicine, and health. Other sources include personal reprint collections of the authors and documents made available to us by colleagues who are publishing in this field. The goal of the human gene map for fitness and performance is to review all genetic loci and markers shown to be related to physical performance or health-related fitness phenotypes in at least one study. Negative studies are briefly reviewed for a balanced presentation of the evidence. However, the nonsignificant results are not incorporated in the summary tables.

The physical performance phenotypes for which genetic data are available include cardiorespiratory endurance, elite endurance athlete status, muscle strength, other muscle performance traits, and exercise intolerance of variable degrees. Consistent with the previous reviews, the phenotypes of health-related fitness retained are grouped under the following categories: hemodynamic traits including exercise heart rate, blood pressure, and heart morphology; anthropometry and body composition; insulin and glucose metabolism; and blood lipid, lipoprotein, and hemostatic factors. Here, we are not concerned by the effects of specific genes on these phenotypes unless the focus is on exercise, exercise training, athletes, or active people compared with controls or inactive individuals, or exercise intolerance. The studies incorporated in the review are fully referenced so that the interested reader can access the original papers. The results of early case-control studies of Olympic athletes based on common red blood cell enzymes were essentially negative. The interested reader can consult the first installment of the gene map for a complete summary of these early reports (87).

Figure 1 depicts the 2002 synthesis of the human performance and health-related fitness gene map for the autosomes and the X chromosome. The 2002 version of the gene map includes more than 20 additional gene entries and quantitative trait loci (QTL) and markers than the 2001 version (88). We have also depicted in Figure 2 the gene loci in the mitochondrial DNA in which sequence variants have been shown to be associated with the fitness and performance phenotypes. Table 1 provides a list of all genes or loci, cytogenic locations, and conventional symbols used in this review.

Our goal is to make this publication a useful resource for those who have to teach the role of the genes on fitness and performance traits and the impact of genetic variation among human beings. It is our hope that the yearly update of the fitness and performance gene map will be found useful to the exercise scientists and the sports medicine community.

1Division of Kinesiology, Department of Preventive Medicine Laval University, Ste-Foy, Québec, CANADA;

2Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA;

3Kuopio Research Institute of Exercise Medicine, Department of Physiology, University of Kuopio and Department of Clinical Physiology and Nuclear Medicine, Kuopio University Hospital, Kuopio, FINLAND;

4Department of Physiology and Department of Physical Medicine, University of Puerto Rico School of Medicine, San Juan, PUERTO RICO; and

5Department of Rehabilitative and Preventive Sports Medicine, University of Freiburg, Freiburg, GERMANY

Address for correspondence: Claude Bouchard, Ph.D., Pennington Biomedical Research Center, Human Genomics Laboratory, 6400 Perkins Road, Baton Rouge, LA 70808-4124; E-mail:

Submitted for publication March 2003.

Accepted for publication May 2003.

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Endurance Phenotypes

Case-control studies.

The case-control studies reporting statistically significant differences in allele and genotype frequencies between endurance athletes and sedentary controls are summarized in Table 2. In 2002, no additional studies were published.

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Cross-sectional association studies.

Results from four studies dealing with cross-sectional associations between DNA sequence variation and endurance-related phenotypes were published in 2002 (Table 3). Wagoner and coworkers (133) investigated the impact of cardiac β1-adrenergic receptor polymorphisms on exercise capacity in 263 patients with idiopathic or ischemic cardiomyopathy. They found significant association between a common polymorphism at position 389 of the ADRB1 gene and different performance measures, including V̇O2peak and maximum exercise time from treadmill testing. Patients carrying the Arg389 allele had significantly higher V̇O2peak values compared with those with Gly389. In addition, in calculating two-locus haplotypes including a second polymorphism at position 49 of the ADRB1 gene, a graded relationship between the five haplotypes and V̇O2 was found with the most divergent V̇O2peak between the homozygous subjects for Gly389/Ser49, and the homozygotes for Arg389/Gly49 (133). In another cohort of 57 patients with congestive heart failure, the carriers for the D allele of the angiotensin-converting enzyme insertion/deletion (ACE I/D) polymorphism showed a decreased exercise tolerance (1). Compared with homozygotes for the I allele, maximum exercise time on a treadmill, as well as V̇O2peak, was significantly lower in I/D and D/D genotypes (1). Hagberg and coworkers (37) confirmed earlier findings in a subsample of their cohort of postmenopausal (PM) women. In 62 PM women, a significantly higher V̇O2max was seen in the I/I genotypes compared with those subjects carrying the D allele (37). A relationship between cystic fibrosis transmembrane regulator protein (CFTR) genotype and some fitness measures was reported among 97 cystic fibrosis (CF) patients (108). Patients with mutations causing defective CFTR production or processing had significantly lower peak aerobic capacity (V̇O2peak) compared with those with a mutation conferring defective regulation of CFTR (108).

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Association studies with training response phenotypes.

Associations between the ACE I/D genotype and changes in endurance performance measures before and after 11 wk of basic military training were investigated in 58 British army recruits (139). After the training program, a genotype-dependent reduction in oxygen consumption at fixed workloads was seen, favoring the II subjects. However, there was no significant intergroup difference in V̇O2max at baseline or after training. The authors concluded that the ACE I/D polymorphism may play a role in enhanced endurance performance in response to training by modulating exercise efficiency, whereas the differences in V̇O2max seem to be independent from the ACE genotype (139).

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Linkage studies.

No new linkage studies on performance-related phenotypes were published in 2002 (Table 4).

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Muscle strength phenotypes.

Two studies dealing with strength or anaerobic performance phenotypes were published in 2002. Results of all earlier studies with positive findings are summarized in Table 5. In the 97 CF patients described above, a Wingate test was performed to determine anaerobic power (108). Peak anaerobic power in subjects with mutations inducing decreased CFTR conduction or decreased CFTR mRNA levels was significantly higher than in patients with the three other types of CFTR variations (108). A G/A polymorphism in the insulin-like growth factor 2 (IGF2) gene was associated with grip strength in 397 British men aged 64–74 yr (103). However, a similar association was not found in 296 women of the same age.

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Hemodynamic Phenotypes.

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Acute exercise.

During 2002, five studies reported associations between hemodynamic phenotype responses to acute exercise and DNA sequence variation in specific candidate genes (Table 6). In 61 healthy PM women, homozygotes for the T allele of the angiotensinogen (AGT) M235T polymorphism showed 19 beats·min−1 higher heart rate (HR) at ∼100% of V̇O2max than MM homozygotes (63). Maximal blood pressures were not associated with the AGT genotype in the same cohort, but a significant genotype-by-physical activity status interaction term was observed for maximal systolic blood pressure (SBP): the T allele was associated with greater maximal SBP only in sedentary women (N = 16) (63). In the same cohort, Hagberg et al. (37) reported an association between submaximal exercise HR and the ACE I/D polymorphism. Furthermore, a genotype-by-physical activity status interaction was reported for submaximal exercise cardiac output and stroke volume (SV): the D/D genotype was associated with greater submaximal SV among physically active women but with lower submaximal SV in women athletes (37).

In patients with chronic obstructive pulmonary disease (COPD), the ACE I/D polymorphism was associated with postexercise mean pulmonary artery pressure (47). However, in untreated hypertensive patients, the ACE I/D polymorphism was not associated with submaximal exercise blood pressure or heart rate (41). A comparison of six obese women who were homozygotes for the Gln27 allele of the ADRB2 gene polymorphism with six age-, sex-, and BMI-matched Glu27Glu homozygotes revealed a greater diastolic blood pressure (DBP) during exercise for the Glu27 homozygotes (60). In the HERITAGE Family Study, the G-protein beta 3 (GNB3) polymorphism was associated with SBP measured during submaximal exercise at 50 W in sedentary white subjects (89). No associations were found between the ADRB1 Arg389Gly polymorphism and maximal exercise SBP, DBP, and HR in heart failure patients (133).

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Training response.

Associations between candidate gene markers and exercise training-induced changes in hemodynamic phenotypes were reported in four studies in 2002 (Table 7). In the DNASCO study, the AGT M235T polymorphism was associated with exercise-induced changes in resting SBP and DBP in a 6-yr intervention study with middle-aged eastern Finnish men (91). The MM homozygotes in the exercise group showed the most favorable changes in blood pressure during the trial as compared with other genotypes in the exercise-training group or in the reference group (91). The ACE I/D polymorphism was associated with resting DBP and mean arterial pressure (MAP) responses to endurance training in Japanese hypertensives: the D/D homozygotes showed blunted training responses as compared with the II and I/D genotypes (140).

In the HERITAGE Family Study, changes in submaximal exercise (50 W) HR after a 20-wk endurance-training program were associated with the GNB3 C825T polymorphism in both black and in white subjects (89). The CC homozygotes showed a greater reduction in HR at 50 W than the TT homozygotes in both racial groups. In addition, the white CC homozygotes had greater increase in SV at 50 W than the TT genotype. In blacks, a significant genotype-by-sex interaction effect was observed for resting SBP and DBP training responses: the women homozygous for the C allele showed greater reduction in resting blood pressures than the heterozygotes or TT homozygotes, whereas in males no associations were observed between the GNB3 genotype and resting BP changes (89). Jamshidi et al. (42) reported a significant association between a peroxisome proliferator-activated receptor alpha (PPARA) gene polymorphism located in intron 7 and left ventricular (LV) growth response to exercise training. In healthy white male British Army recruits, the C allele homozygotes had threefold greater increase in LV mass after a 10-wk training program than the GG homozygotes (42).

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Linkage studies.

Two genome wide linkage scans dealing with exercise-related hemodynamic phenotypes were published in 2002 (Table 8). In the HERITAGE Family Study, two QTL were detected in whites for training-induced changes in submaximal exercise stroke volume (SV at 50 W): one in chromosome 2q31.1-q32.1 and another in chromosome 10p11.2 (82). Stroke volume at 50 W measured in the sedentary state showed linkages on chromosomes 9q32-q33.3 and 14q31.1 in whites and on chromosomes 1p21.3 and 12q13.2 in blacks. Furthermore, linkages with sedentary state cardiac output at 50 W were observed on chromosomes 10p14 and 18q11.2 in blacks (82). Resting SBP training response showed suggestive linkages with markers on chromosome 13q11 in blacks, whereas no QTL were found for resting blood pressure changes in whites (95).

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Exercise and familial cardiac arrhythmias.

A putative gene causing an autosomal-recessive form of familial polymorphic ventricular tachycardia (FPVT) has been reported (Table 6). Lahat and coworkers (54) described a missense mutation in a highly conserved region of the calsequestrin 2 gene (CASQ2), which replaces a negatively charged aspartic acid by a positively charged histidine residue. The mutation fully segregates in seven Bedouin families affected by the FPVT. Furthermore, Postma et al. (79) found three additional CASQ2 mutations in three FPVT families. Each mutation induces a putative premature stop codon and therefore can potentially produce a truncated gene product. Bauce et al. (7) screened the ryanodine receptor 2 gene for mutations in 81 subjects from eight families affected by the autosomal-dominant form of FPVT. They reported six mutations, two of which were novel (7).

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Anthropometry and Body Composition Phenotypes.

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Association studies.

Eight studies reported associations between candidate genes and phenotypes related to anthropometry and/or body composition in 2002 (Table 9). The association between the Glu27Gln polymorphism of the ADRB2 gene and the risk of obesity was investigated in 139 obese women and 113 healthy controls (20). A significant (P = 0.005) interaction between leisure-time energy expenditure and the ADRB2 polymorphism was observed. The reduction in the risk of obesity associated with increased levels of leisure-time energy expenditure was more pronounced in carriers of the 27Gln allele than in carriers of the 27Glu allele, and active women carriers of the 27Glu alleles had also a higher BMI than noncarriers. These results suggest that obese women carriers of the 27Glu allele of the ADRB2 gene may be more resistant to losing weight when they increase their physical activity level (20). Another case-control study was used to examine the impact of a VDR gene polymorphism (a C to T transition in exon 2 of the gene) on bone phenotypes. Bone mineral content (BMC) of the lumbar spine and femoral neck were measured in 44 highly trained young male athletes and 44 age-matched controls (76). The VDR polymorphism was associated with differences of about 8% in BMC in athletes, whereas no such effects were observed in controls (76). Another study of 575 healthy PM women investigated the impact of another common polymorphism (BsmI) in the VDR gene on bone mineral density (BMD) measured at the lumbar spine and femoral neck (9). The results indicated that this particular VDR polymorphism was associated with BMD at the lumbar spine (P = 0.04) but only in active women.

Five studies showed associations with response to exercise training or acute exercise. The association of the Pro12Ala polymorphism in the PPARG gene with the incidence of diabetes and body weight changes was investigated in 490 subjects with impaired glucose tolerance (58). Subjects were randomized to either an intervention group or a control group. Subjects of the intervention were given tailored dietary advice aimed at reducing body weight and were individually guided to increase their physical activity level, whereas subjects of the control group received general information about the benefits of a healthy diet and physical activity. The Pro12Ala polymorphism was associated with the 3-yr body weight changes in the intervention group but not in the control group. In the intervention group, subjects homozygous for the Ala allele lost more (P = 0.04) weight (−8%) than subjects homozygous for the Pro allele (−3%) (58). The relationship between the Gln27Glu polymorphism of the ADRB2 gene and energy utilization during exercise was investigated in 12 obese women: six homozygous for the Glu allele and six homozygous for the Gln allele (61). The obese women (BMI > 30 kg·m−2) were measured for various anthropometric and metabolic variables before and after completion of a maximal exercise treadmill test. Women with the Glu27Glu genotype had a significantly higher respiratory exchange ratio (RER) than women homozygous for the Gln27 allele, suggesting a higher postexercise fat oxidation in the latter compared with the former. Polymorphisms in the ADRB3 and UCP1 genes were tested for association with leptin levels measured before and after 3 months of a low-intensity (50% of maximal heart rate) exercise-training program including 106 healthy Japanese men (43). After the 3-month exercise-training program, the Trp64Arg polymorphism of the ADRB3 gene was found to be associated with serum leptin, with a significant reduction in leptin levels in the Trp64Trp homozygous subjects but not in the Arg64Arg homozygotes (43). Polymorphisms in the UCP3 (57) and GNB3 (89) genes were tested for association with changes in body composition after 20 wk of endurance training in subjects from the HERITAGE Family Study. Evidence of association (P = 0.0006) was observed between a dinucleotide repeat located in intron 6 (GAIVS6) of the UCP3 gene and training-induced changes in subcutaneous fat (assessed by the sum of eight skinfolds) in whites (57). In blacks, a significant association was observed for the C825T polymorphism in the GNB3 gene and training-induced changes in body fatness (P = 0.01) and percent body fat (P = 0.006) (89).

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Linkage studies.

The results of linkage studies with training-induced changes in body composition phenotypes are summarized in Table 10. Two linkage studies were published in 2002. In the first study, polymorphisms in the UCP3 gene were tested for linkage with changes in body composition in response to 20 wk of endurance training in subjects from the HERITAGE Family Study (57). Evidence of linkage was found between the GAIVS6 polymorphism of the UCP3 gene described above and changes in percent body fat (P = 0.009) and subcutaneous fat (P = 0.01) in 503 subjects from 99 Caucasian families. The second study was a genome scan of abdominal fat measured by computed tomography before and after 20 wk of endurance training in 668 subjects from 99 Caucasian and 105 Black families from the HERITAGE Family Study cohort (94). Changes (difference between pre- and posttraining values) in abdominal subcutaneous (ASF), visceral (AVF), and total (ATF) fat areas were adjusted for the effects of age, sex, total body fatness, and baseline values and tested for linkage with a set of 344 markers from the 22 autosomes. No evidence of linkage was found with changes in ATF. However, changes in ATF were linked with markers (D7S559 and NOS3) on 7q36 and markers (S100A, ATP1B1, and ATP1A2) on 1q21-q25. For ASF, linkages were found on chromosomes 10q24-q26 and 11p15.5 with polymorphisms in the ADRA2A and IGF2 genes, respectively (94).

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Insulin and glucose metabolism phenotypes.

Two studies performed with insulin and glucose metabolism phenotypes were reported in 2002. The first study by Kahara et al. (43) involved 106 Japanese men submitted to 3 months of exercise training. Results revealed significant (P < 0.01) evidence of association between changes in fasting plasma glucose and a polymorphism in the 5′-flanking region of the UCP1 gene. In the second study, the ACE I/D polymorphism was tested for association with exercise-induced changes in insulin action (23). An intravenous glucose tolerance test group was administered to 35 (63 yr of age on average) hypertensive men before and after a 6-month aerobic exercise program and changes in glucose metabolism were tested for association with the ACE genotype. Significant interaction between the ACE genotype and changes in insulin sensitivity was observed. Subjects homozygous for the insertion allele (II) had the greatest improvements in insulin sensitivity and the greatest decline in the acute insulin response to glucose compared with those individuals who were homozygous for the D allele (23). With the positive associations reported last year with the Trp64Arg mutation in the ADRB3 gene (77,102), there are now four studies reporting positive associations with phenotypes related to glucose and insulin metabolism.

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Blood lipid, lipoprotein, and hemostatic factor phenotypes.

Three new studies were published in 2002 regarding the role of genetic factors in the response of blood and muscle lipid metabolism to physical activity (Table 11). In addition, one study (65), which was published at the end of the previous year, has now been included. In a population-based sample of middle-aged men and women, statistically significant interaction effects between high-intensity physical activity and Apo E4 homozygotes were found for plasma high-density lipoprotein (HDL) cholesterol and triglycerides in men, but only in HDL cholesterol in women (8).

A small, uncontrolled study was carried out in young healthy subjects (117). Regular physical exercise was associated with decreased oxidized low-density lipoprotein in L homozygotes of the PON1–55 polymorphism, and with increased paraoxonase 1 activity in subjects homozygous for the Q allele of the PON1–192 polymorphism. On the other hand, carriers of the R allele showed decreased PON1 activity. A bout of physical exercise produced an acute increase in PON1 activity that was recovered during the ensuing 24 h with no differences in QQ subjects or trained subjects carrying the R allele.

In a large cohort of middle-aged subjects, an interaction effect between objectively measured physical activity level and β2- adrenergic receptor gene Gly16Arg polymorphism on plasma nonesterified fatty acids (NEFA) was reported (65). Suppression of plasma NEFA levels was found in Arg16Arg subjects with increasing physical activity level. Similar results were reported from a small, uncontrolled study with female subjects (61), in which submaximal physical exercise resulted in a blunted response in lipolysis and fat oxidation acutely in subjects homozygous for the Glu27 allele.

One study was reported on the modifying response of beta fibrinogen genotype to acute heavy physical exercise (13). This study was undertaken in young army recruits after an exercise-training program for 11 wk. Carriers of the A allele of the −455 G>A polymorphism were found to display higher plasma fibrinogen levels postexercise compared with GG homozygote subjects. However, no differences in plasma fibrinogen between genotypes were found according to the −854 G>A polymorphism.

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Exercise intolerance.

During the year 2002, two studies reported mutations in nuclear genes, and four studies found mutations in mitochondrial genes associated with exercise intolerance (Table 12). Two mutations in the alpha-sarcoglycan gene were found in a young male patient who had developed progressive muscle weakness and exercise intolerance since his early teens (66). The patient was a compound heterozygote for the Glu137Lys and Arg284Cys mutations. Vladutiu and coworkers (129) reported a detailed genetic, metabolic, and neuromuscular study of a family with carnitine palmitoyltransferase II (CPT2) deficiency. Two of the four daughters manifested exercise intolerance, whereas the remaining two daughters and parents did not. Genetic analyses showed that the daughters with exercise intolerance were compound heterozygotes for two disease-causing mutations in the CPT2 gene (S113 L and Q413fs). Other family members were heterozygous for only one of the two mutations (129).

Two studies reported new mutations in the mitochondrial cytochrome b (MTCYB) gene in patients exhibiting exercise intolerance: a C15800T transition inducing a premature stop codon (56) and a T14849C mutation causing an exchange of a highly conserved serine to proline at position 35 (105). Karadimas and coworkers (49) reported a new patient with a previously characterized G12315A mutation in the mitochondrial tRNA(Leu(CUN)) gene. Finally, a G4309A mutation in the mitochondrial tRNA(Ile) gene was reported in a 32-yr-old woman with exercise intolerance since childhood (17). All four mitochondrial gene mutations were heteroplasmic.

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This review constitutes the 2002 update of the human gene map for physical performance and health-related phenotypes and is based on scientific papers published by the end of 2002. Association studies with candidate genes, genome-wide scans with polymorphic markers, and single gene defects causing exercise intolerance to variable degrees are included. The genes and markers with evidence of association or linkage with a performance or fitness phenotype in sedentary or active people, in adaptation to acute exercise or for training-induced changes are positioned on the genetic map of all autosomes and the X chromosome. By the end of 2000, 29 gene entries and QTL were depicted on the map. The 2001 map included 71 entries on the autosomes and two on the X chromosome. Among these genes, 24 were from prior publications on exercise intolerance and four related to other pathologies. In addition, variants in 13 mitochondrial genes were shown to influence relevant fitness and performance phenotypes. By the end of December 2002, the gene map contains 90 gene entries and QTL on the autosomes, two on the X chromosome, plus 14 mitochondrial genes.

An encouraging trend is that of using well-defined samples of patients (e.g., heart failure, COPD, etc.) and controls to define the role of candidate genes and mutations in health-related fitness and performance phenotypes. Although such studies represent major challenges primarily because of sample size and disease heterogeneity issues, they can contribute significantly to our understanding of the role of genetic variation in the predisposition to specific diseases and in the acute response to exercise or the adaptation to exercise training.

Appropriately designed expression studies are needed to generate new and better-justified candidate genes. Genome-wide scans based on large numbers of polymorphic markers followed by extensive positional cloning efforts are needed to evidence new candidate genes. These explorations of the genome should be undertaken not only on cohorts of human families but also with informative rodent crosses. Transgenic mice overexpressing a targeted gene in relevant tissues are needed to refine our understanding of the role of potential candidate genes. Similarly, engineered mice in which specific genes have been knocked out would be useful for the definition of their roles on fitness and performance phenotypes. Candidate gene studies need to move to a higher level of sophistication not only in terms of study design and appropriate sample sizes but also by more detailed exploration of DNA variation in exons, splicing sequences, and promoter regions. Whether we recognize it or not, overall progress in exercise science and sports medicine will be closely related to our understanding of the genetic and molecular basis of fitness and performance phenotypes and their responses to long-term exposure to exercise. These yearly updates of the fitness and performance human gene map reveal that advances in the field are currently registered at a very modest pace.

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