Medicine & Science in Sports & Exercise:
The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2005 Update
RANKINEN, TUOMO1; BRAY, MOLLY S.2; HAGBERG, JAMES M.3; PÉRUSSE, LOUIS4; ROTH, STEPHEN M.3; WOLFARTH, BERND5; BOUCHARD, CLAUDE1
1Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA; 2Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX; 3Department of Kinesiology, College of Health and Human Performance, University of Maryland, College Park, MD; 4Division of Kinesiology, Department of Preventive Medicine, Laval University, Ste-Foy, Québec, CANADA; and 5Preventive and Rehabilitative Sports Medicine, Technical University Munich, Munich, GERMANY
Address for correspondence: Claude Bouchard, PhD, Human Genomics Laboratory, Pennington Biomedical Research Center, 6400 Perkins Road, Baton Rouge, LA 70808-4124; E-mail: email@example.com.
Submitted for publication April 2006.
Accepted for publication May 2006.
The current review presents the 2005 update of the human gene map for physical performance and health-related fitness phenotypes. It is based on peer-reviewed papers published by the end of 2005. 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, in the early version of the gene map, 29 loci were depicted. In contrast, the 2005 human gene map for physical performance and health-related phenotypes includes 165 autosomal gene entries and QTL, plus five others on the X chromosome. Moreover, there are 17 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is growing in complexity. Unfortunately, progress is slow in the field of genetics of fitness and performance, primarily because the number of laboratories and scientists focused on the role of genes and sequence variations in exercise-related traits continues to be quite limited.
This paper constitutes the sixth installment in the series on the human gene map for performance and health-related fitness phenotypes published in this journal. It covers the peer-reviewed literature published by the end of December 2005. The search for relevant publications is primarily based on the journals available in MEDLINE, the National Library of Medicine's publication database covering the fields of Life Sciences, biomedicine, and health, using a combination of key words (e.g., exercise, physical activity, performance, training, genetics, genotype, polymorphism, mutation, linkage). Other sources include personal reprint collections of the authors and documents made available to us by colleagues who are publishing in this field. The electronic prepublications, that is, articles that are made available on the Web site of a journal before being published in print, are not included in the current review. 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 about the effects of specific genes on these phenotypes unless the focus is on exercise, exercise training, athletes, or active people compared against controls or inactive individuals, or exercise intolerance. This is particularly important for the genetic studies that have focused on body mass index, adiposity, fat-free mass, adipose tissue distribution, and various abdominal fat phenotypes. If there were no exercise-related issues in those studies, the papers are not considered here. However, the interested reader can obtain a full summary of these other studies in one of our complementary papers published every year in Obesity Research under the general theme of the status of the human obesity gene map. The interested reader may also consult the following electronic version of this other map (http://obesitygene.pbrc.edu).
The studies incorporated in the review are fully referenced so that the interested reader can access the original papers. Of interest to some could be the early observations made on athletes, particularly Olympic athletes. The results of these case-control studies based on common red blood cell enzymes were essentially negative and are not reviewed in this edition of the map. The interested reader can consult the first installment of the gene map for a complete summary of these early reports (164).
The 2005 synthesis of the human performance and health-related fitness gene map for the autosomes and the X chromosome is summarized in Figure 1. The 2005 update includes 26 additional gene entries and quantitative trait loci (QTL) compared with the 2004 version (255). 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 fitness and performance phenotypes. Table 1 provides a list of all genes or loci, cytogenic locations, and conventional symbols used in this review.
It remains our collective goal to make this publication a useful resource for those who teach undergraduate and graduate students about the role of inheritance on fitness and performance traits and the impact of genetic variation on the health of human beings. It is also our hope that the yearly update of the fitness and performance gene map will be useful to exercise scientists and the sports medicine community.
Several new case-control studies were published in 2005 dealing with endurance performance phenotypes (Table 2). Three studies from Spain included elite cyclists and runners. The first study showed a different pattern of the angiotensin-converting enzyme (ACE) I/D allele distribution with a higher proportion of the D allele in cyclists (65%, N = 50) and controls (57.6%, N = 119) compared with runners (46.3%, N = 27, P < 0.001). A muscle-type creatine kinase gene (CKM) polymorphism showed no significant differences in allele or genotype frequencies between the same athletes and controls (109). The next two papers from the same research group included 104 cyclists and runners. The frequency of the C34T mutation of the adenosine monophosphate deaminase 1 (AMPD1) gene was significantly higher in 100 nonathlete controls (T: 8.5%) than in the athletes (T: 4.3%). However, because there were no genotype-dependent differences in performance traits among the athletes, the authors concluded that the AMPD1 mutation may not significantly affect endurance performance (188). Comparing the same athletes with a group of 100 exeptional unfit controls, Lucia and coworkers found a significant difference in the PPARGC1 (Gly482Ser) genotype distributions between the two groups. The frequency of the minor Ser482 allele was significantly lower in athletes than in the unfit controls (29.1 vs 40.0%) (108).
A group from Finland determined mitochondrial DNA and the alpha 3 actinin (ACTN3) genotypes in national elite endurance (N = 52) and sprint (N = 89) athletes. The frequency of mtDNA haplogroups differed significantly between the two groups, with some haplogroups missing totally in the endurance athletes. Moreover, they found a trend for a higher ACTN3 X/X genotype frequency in the endurance athletes (140). In two cohorts of Ethiopian endurance runners, the investigators did not find a significant distinction for mitochondrial DNA lineages or Y chromosome haplogroups compared with the general Ethiopian population (128,199). Another study investigated two ACE gene polymorphisms in national- and international-level elite runners and nonathlete controls from Kenya. The allele and genotype frequencies did not differ between the athletes and controls (198).
Cross-sectional association studies
Three new studies reported positive findings for endurance-related phenotypes in cross-sectional association studies in 2005 (Table 3). In a study cmprising 29 elite Caucasian wrestlers and 51 age-matched sedentary controls, a significant association between V˙O2max and the ACE I/D genotype was found in both groups, with the D/D subjects having lower values than the I/I homozygotes. No differences were seen in genotype frequencies between the two groups (89). In a cohort of 83 patients with heart failure, peak V˙O2 and exercise time were significantly greater in patients homozygous for the 389R allele of the adrenergic receptor beta 1 (ADRB1) gene compared with the 389G homozygotes. The significant association remained after adjusting for confounding factors (age, treatment with β-blockers, LVEF) (191).
Cam et al. investigated in 88 nonelite male athletes the relationship between the ACE I/D genotype and middle-distance running performance measured by a 2000-m run. The ACE D/D genotype frequency was found to be higher in the superior group than in the poor and mediocre group based on 2000-m performance. However, no genotype-dependent differences were seen for a 60-m sprint in the same cohort (21). Another four studies showed no association between different genetic variants and V˙O2max values in the sedentary state. These studies included NADPH oxidase p22phox gene variants in middle-aged Caucasians, the peroxisome proliferative activated receptor gamma (PPARG) Pro12Ala polymorphism in 139 type 2 diabetic patients, beta-adrenoceptor gene polymorphismsin patients with congestive heart failure, and ACE I/D variation in 18- to 35-yr-old healthy women (2,32,147,183).
Association studies with training response phenotypes
In 2005, two studies analyzed associations between training-induced changes in endurance phenotypes and genetic polymorphisms. The influence of the PPARG Pro12Ala genotype on training-induced changes after 6 months of endurance training was tested in 73 sedentary 50- to 75-yr-old healthy men and women. V˙O2max values increased by almost 20% in average, but the training-induced changes did not differ between the PPARG genotypes (249). Similar findings were reported in 48 healthy subjects who participated in a 10-wk aerobic training program: neither baseline V˙O2max nor V˙O2max training response were associated with the PPARG Pro12Ala and the ACE I/D polymorphisms (143).
No new linkage studies on performance-related phenotypes were published in 2005 (Table 4).
The studies reporting candidate gene associations with muscle strength or anaerobic performance phenotypes are summarized in Table 5. In 2005, six studies reported positive genetic associations with muscle strength-related phenotypes. Williams et al. (250) examined the ACE I/D genotype associations with quadriceps muscle strength in 81 young Caucasian men, 44 of whom completed an 8-wk strength-training program. Baseline isometric strength was significantly associated with ACE genotype (P = 0.026), with I-allele homozygotes showing the lowest strength values. No association was found with changes in strength in response to training.
Peeters and colleagues (149) reported higher isometric grip strength (P = 0.047) and leg-extensor strength (P = 0.07) in 350 predominantly Caucasian older men (> 70 yr) who carried the D1a-T allele of the type I iodothyronine deiodinase (DIO1) gene compared with D1a-C allele homozygotes. Kostek et al. (93) studied 67 older Caucasian men and women before and after a 10-wk unilateral strength-training program for associations between insulin-like growth factor (IGF1) gene polymorphisms and muscle phenotypes. Carriers of the 192 allele of the IGF1 promoter microsatellite showed greater quadriceps-muscle strength gains compared with noncarriers (P = 0.02), with no differences observed for the muscle-quality response to training. Other polymorphisms in the IGF1 gene were not associated with any muscle phenotypes. Nicklas et al. (139) examined associations between several cytokine gene markers and physical function before and after exercise training in older men and women (≥ 60 yr). Stair-climb performance improved in response to training more in A-allele carriers of the A-308G polymorphism in the tumor necrosis factor alpha (TNF) gene compared with G/G homozygotes (P = 0.007).
Clarkson and colleagues (25) reported that one-repetition maximum gains in response to a 12-wk strength-training program were greatest in women homozygous for the X-allele of the (ACTN3) gene compared with the R-allele homozygotes (P < 0.05). In contrast, the X/X women had lower baseline isometric strength than the R/R women (P < 0.05). No association was observed between the ACTN3 R577X polymorphism and muscle phenotypes in men. In an examination of genotypes in the ACTN3 and myosin light-chain kinase (MYLK) genes, Clarkson et al. (26) studied associations with exertional muscle damage in 157 predominantly Caucasian men and women. Subjects performed eccentric contraction of the elbow flexors, with creatine kinase, myoglobin, and isometric strength tested before and after the exercise bout. Although ACTN3 genotype was associated with baseline creatine kinase levels, no associations were observed for any other phenotypes before or after exercise. Polymorphisms in the MYLK gene were associated with baseline muscle strength and with creatine kinase and myoglobin responses and strength loss after the eccentric exercise bout.
In 2005, three studies reported negative genetic associations with muscle strength-related phenotypes. Grundberg et al. (56) reported no association between a TA-repeat polymorphism in the estrogen-receptor alpha (ESR1) gene and several muscle-strength measures in 175 Swedish women (20-39 yr). Walsh and colleagues (245) found no association between muscle strength and an androgen-receptor (AR) gene CAG-repeat polymorphism in two cohorts of older men and women, despite finding significant genotype associations with fat-free mass in the men of both cohorts. Finally, Walston and coworkers (246) examined individual polymorphisms and haplotypes in the interleukin-6 (IL6) gene for association with several muscle-strength measures. They reported no associations for any IL6 genotypes with any strength or related phenotypes in a study of 463 older women (70-79 yr).
In 2005, one investigation provided linkage data relevant to muscle-strength phenotypes (Table 4). Huygens et al. (73) performed a linkage analysis in 367 young Caucasian male siblings from 145 families with markers in the general vicinity of nine genes involved in the myostatin signaling pathway and various measures of muscle strength. Significant linkages were reported on four chromosomal regions with knee muscle-strength measures: chromosome 13q21 (D13S1303), chromosome 12p12-p11 (D12S1042), chromosome 12q12-q13.1 (D12S85), and chromosome 12q23.3-q24.1 (D12S78). These findings represent an expansion of an earlier linkage study reported by the same group in 2004 (71).
HEALTH-RELATED FITNESS PHENOTYPES
In 2005, three groups published results relative to the impact of common genetic variations on exercise-related hemodynamic phenotypes (Table 6). Eisenach and coworkers found that men and women homozygous for the Gly16 allele of the adrenergic receptor beta 2 (ADBR2) gene had larger heart rate responses (60 ± 4 vs 45 ± 4%, P = 0.03) and a higher cardiac output (7.6 ± 0.3 vs 6.5 ± 0.3 L·min−1, P = 0.03) during isometric handgrip exercise than otherwise similar individuals homozygous for the Arg16 allele (38). However, the decrease in systemic vascular resistance during handgrip exercise did not achieve statistical significance between the two homozygous genotype groups (P = 0.09).
Trombetta et al. found in women that the Gly16 and Glu27 genotypes at the ADRB2 gene locus affected the forearm blood flow (FBF), but not conductance, responses to isometric handgrip exercise (225). Whereas all genotype groups increased their FBP during handgrip exercise, women homozygous for both the Gly16 and the Glu27 alleles had a significantly greater FBF increase than those homozygous for the other combinations of these alleles.
Roltsch and coworkers found that the ACE I/D genotype did not significantly influence any hemodynamic responses to submaximal or maximal exercise in a cohort of 77 young healthy women (183). The hemodynamic responses assessed in this study included heart rate, systolic and diastolic BP, cardiac output, stroke volume, total peripheral resistance, and a-V˙O2 difference.
Gene-physical activity interactions
In 2005, two studies assessed the interactive effect of common genetic polymorphisms and physical activity levels on hemodynamic phenotypes (Table 6). Roltsch and coworkers found that the ACE I/D genotype did not interact with habitual level of physical activity, ranging from sedentary to endurance trained, to significantly alter hemodynamic responses (heart rate, systolic and diastolic BP, cardiac output, stroke volume, total peripheral resistance, and a-V˙O2 difference) to submaximal or maximal exercise in young women (183).
Tanriverdi and coworkers found in a group of predominantly male athletes (middle-distance runners, soccer players) that flow-mediated dilation (FMD) was significantly greater in those with the ACE I/I genotype (10.5 ± 1.6%) compared with those with the I/D (8.4 ± 2.3%) or D/D (7.0 ± 1.2%) genotypes (217). No ACE genotype-dependent FMD relationships were evident in the untrained individuals they studied.
Delmonico and coworkers reported that the angiotensinogen (AGT) A-20C genotype affected the resting systolic BP reductions, whereas the angiotensin II receptor type 1 (AGTR1) A1166C genotype affected the resting diastolic BP reductions resulting from 23 wk of resistive training in 52- to 81-yr-old sedentary men and women (34). However, the AGT M235T genotype did not affect the degree to which these men and women reduced their resting systolic or diastolic BP with resistive training (Table 7).
No new linkage studies were published in 2005 (Table 8).
Anthropometry and Body-Composition Phenotypes
In 2005, four studies (10,94,129,143) tested associations between candidate genes and body fat in response to exercise or in interaction with physical activity, and three of them reported positive findings (Table 9). In a 10-yr follow-up study of obese and nonobese Danish men, interactions between leisure-time physical activity and polymorphisms in the uncoupling protein 2 (UCP2) and 3 (UCP3) genes were examined in relation to changes in body mass index (BMI), but no evidence of interaction between the UCP genes and physical activity on the changes in BMI was uncovered (10). The second study (129) examined the interactions between the ACE I/D polymorphism and physical activity on adiposity in adolescent (11-18 yr old) males (N = 535) and females (N = 481). Strong evidence of association was found between the ACE I/D polymorphism and triceps (P = 0.012) and subscapular (P = 0.001) skinfolds, but only in inactive (N = 207) females. The polymorphism accounted for 4.3 and 6.5% of the variance in the triceps and subscapular skinfolds, respectively (129).
Another study involving the ACE I/D polymorphism genotype in more than 3000 adult subjects aged 70-79 yr found higher values of percent body fat and intermuscular thigh fat (assessed by CT scan) in subjects with the I/I genotype compared with those with the I/D or D/D genotype, but the association was observed only among physically active subjects (94). Ostergard and coworkers reported that in a small group of offspring of type 2 diabetics, the Ala12 allele carriers of the PPARG Pro12Ala polymorphism showed a greater weight loss compared with the Pro12Pro homozygotes in response to 10 wk of endurance training (143).
In 2005, one study tested association between candidate genes and bone mineral density (BMD) responses to exercise training. Rabon-Stith and colleagues examined the response of BMD to both aerobic and strength training in 206 total older men and women in relation to two polymorphisms in the vitamin D-receptor gene (VDR) (158). The FokI polymorphism was significantly associated with the femoral neck BMD response to strength training. There was no association between either VDR polymorphism with the BMD response to aerobic training.
No linkage studies pertaining to training-induced changes in body-composition phenotypes (Table 10) were reported in 2005.
Insulin and Glucose Metabolism Phenotypes
Five studies in the past year investigated associations with insulin and glucose metabolism phenotypes in response to exercise (Table 11). The first study investigated associations between the PPARG Pro12Ala polymorphism and improvements in insulin action in response to endurance training in sedentary men (N = 32) and women (N = 41). Subjects underwent an oral glucose-tolerance test before and after 6 months of endurance training. Results showed that decreases in fasting insulin and insulin area under the curve in response to training were about fourfold greater in the Pro12Ala heterozygous men compared with Pro12 homozygous men. No genotype-specific effects of exercise training were found in women (249). The second study evaluated the impact of the PPARG Pro12Ala and the ACE I/D polymorphisms on insulin sensitivity (measured by the hyperinsulinemic euglycemic clamp technique) in response to 10 wk of endurance training in 29 offspring of type 2 diabetic patients and 17 control subjects (143). Improvements in insulin sensitivity were not associated with the PPARG and ACE genotypes.
The third study examined associations between the hepatic lipase (LIPC)-514 C>T polymorphism and changes in insulin sensitivity in response to endurance training in 219 black adults and 443 white adults of the HERITAGE Family Study (219). In the sedentary state, the insulin sensitivity, assessed by an intravenous glucose-tolerance test, did not differ between the LIPC-514 genotypes. However, the training-induced improvements in insulin sensitivity, after adjustment for age, sex, BMI, and baseline values, were found to be greater in both black (P = 0.008) and white (P = 0.002) C/C homozygotes (+1.25 ± 0.2 and +0.22 ± 0.2 μU·min−1·mL−1) than in the T/T homozygotes (+0.27 ± 0.3 and −0.97 ± 0.3 μU·min−1·mL−1). The fourth study examined the effects of the PPARG Pro12Ala polymorphism on changes in glucose homeostasis and body-composition variables in 139 sedentary type 2 diabetic patients who completed 3 months of supervised exercise training (2). Although exercise training resulted in significant improvements in glucose homeostasis and body-composition variables, there were no significant differences between carriers and noncarriers of the Ala allele in response to exercise, except for fasting plasma glucose levels, which showed greater reductions (P = 0.03) in the Ala carriers (−2.02 ± 0.70) than in Pro12Pro homozygotes (−0.86 ± 0.32). In the fifth study, a polymorphism in the adiponectin receptor 1 (ADIPOR1) gene was found to be associated with lower insulin sensitivity in a follow-up study of 45 subjects (average follow-up of 9.8 months) who received diet counselling and increased their physical activity to at least 3 h·wk−1 of sports (211).
The only linkage study pertaining to glucose and insulin metabolism phenotypes reported in 2005 was a genome-wide linkage analysis of prediabetes phenotypes in response to 20 wk of endurance training in subjects from the HERITAGE Family Study (Table 12). Training-induced changes in insulin sensitivity, acute insulin response to glucose, disposition index, and glucose effectiveness were assessed in 441 subjects from 98 white families and 187 subjects from black families, adjusted for the effect of age, sex, BMI, and the respective baseline phenotypic values and tested for linkage with a total of 654 markers (4). In whites, suggestive (P ≤ 0.01 or LOD ≥ 1.17) evidence of linkage with disposition index (a measure of overall glucose homeostasis) was found on chromosomes 1p35.1, 3q25.2, 6p22.1, and 7q21.3. In blacks, suggestive linkages with glucose effectiveness were found on chromosomes 1q44, 2p22.1-p21, 10q23.1-q23.2, 12q13.11-q13.13, and 19q13.33-q13.43.
Blood Lipid and Lipoprotein Phenotypes
Seven new papers were published in 2005 analyzing genetic association or linkage for lipid responses to acute or chronic exercise and/or physical activity (Table 13). Ruano et al. investigated the effect of a promoter region variant (-75G>A) polymorphism in the apolipoprotein A1 gene (APOA1) on high-density lipoprotein (HDL) cholesterol after 6 months of aerobic exercise training (187). Although APOA1 genotype was not associated with either total HDL or subfractions of HDL at baseline or after exercise training, the ratio of large HDL subfraction (HDL3 + HDL4 + HDL5) to small HDL subfraction (HDL1 + HDL2) was significantly different by genotype after exercise training. Homozygotes for the -75G allele had increased amounts of the large HDL subfractions and decreased amounts of the small HDL subfraction compared with carriers of the -75A allele, suggesting that APOA1 genotype is associated with HDL subfraction redistribution after exercise (187).
Halverstadt and colleagues investigated the association between variation in the IL6 gene and HDL-C in elderly men and women undergoing 24 wk of aerobic exercise training (64). Sixty-five subjects were genotyped for the IL6 174G > C variant and measured for total HDL-C as well as HDL-C subfractions before and after training. Although the IL6 174G > C polymorphism not associated with any measure of HDL-C at baseline, this variant was significantly associated with changes in total HDL-C, HDL3-C, integrated HDL4,5-C (as measured by nuclear magnetic resonance spectroscopy), and HDLsize, with homozygotes of the 174C allele having greater increases after exercise training for each of these measures compared with those carrying the 174G allele (64).
The -514C>T polymorphism within the LIPC gene was investigated for association to lipid-related measures before and after exercise in black and white families from the HERITAGE study. Individuals from this study underwent 20 wk of aerobic exercise training and were measured for a lipid panel that included triglycerides (TG), low-density and very-low-density lipoprotein (LDL and VLDL, respectively), HDL, HDL2, HDL3, Apo-A1, and apolipoprotein B (apoB) (219). In addition, the subjects were also measured for postheparin hepatic lipase and lipoprotein-lipase activity. Homozygotes for the -514C allele had significantly higher postheparin hepatic lipase activity at baseline and after exercise training (P < 0.0001 for both) in both black and white subjects compared with those with the T/T genotype. The -514C allele was also associated with lower postheparin lipoprotein lipase in blacks and whites before and after exercise training compared with -514T homozygotes (219). The LIPC -514C>T polymorphism was significantly associated with baseline TG, VLDL, LDL, HDL, ApoA1, and ApoB in whites and with pretraining HDL, HDL3, and ApoA-1 in blacks. The only posttraining variable associated with the LIPC -514C>T variant was the training response measure of apoB in blacks. All other pre- and postexercise lipid measures were unrelated to the -514C>T polymorphism (219).
Two studies assessed the effects of genetic variation in response to diet/lifestyle/behavior interventions that included exercise. Coronary artery disease patients (N = 307) underwent a cardiac rehabilitation intervention that included diet, eduction, psychosocial, and smoking cessation counseling, in addition to twice-weekly aerobic exercise for 16 wk. Three gene variants were measured in these patients: the cholesterol-ester transfer protein (CETP) TaqIB polymorphism, the LIPC -514C>T variant, and the apolipoprotein E (APOE) epsilon variant. Although the cardiac rehabilitation intervention resulted in significant improvements in all measures assessed (total cholesterol (TC), LDL-C, HDL-C, TG, TC/HDL-C, BMI, and exercise capacity), results of this study for genetic association were primarily negative. Of all measures tested, the only significant result was for TC and the CETP TaqIB polymorphism (P < 0.048), with B1/B1 homozygotes experiencing decreased TC levels and B2 carriers having little or no change in TC after the lifestyle/exercise intervention (9). In another study, men and women underwent a diet and physical activity intervention designed to reduce insulin resistance, and the -8503G>A polymorphism within the ADIPOR1 was investigated for association to measures of insulin sensitivity and hepatic lipids (211). The dietary therapy was aimed at reducing fat intake, whereas the physical activity intervention involved a minimum of 3 h·wk−1 of sports participation. After exercise and diet therapy, homozygotes for the -8503G allele had significantly lower hepatic lipid content (as measured by proton magnetic resonance spectroscopy) compared with subjects carrying the -8503A allele (211).
Two linkage studies for lipid-related phenotypes in the context of exercise training were reported in 2005 (Table 12). In a study of black and white families from the HERITAGE Family Study, Feitosa and colleagues reported evidence of QTL on chromosomes 13q and 14q for triglyceride subfractions (low-density lipoprotein (LDL-TG) and HDL-TG) at baseline and after 20 wk of exercise training (43). The highest LOD score reported was for baseline HDL-TG (LOD = 3.8) on 13q12-q14, and suggestive evidence for linkage was found in this same region for LDL-TG training response (LOD = 2.2) in whites only. For baseline LDL-TG in whites, significant or suggestive evidence of linkage was found on 14q31 (LOD = 3.2), 10p14 (LOD = 2.9), and 19p13 (LOD = 2.2). For HDL-TG in whites, suggestive evidence of linkage was found on 12q24 (LOD = 2.7) for baseline measures and on 10q23 (LOD = 2.2) for measures performed after 20 wk of exercise training. No evidence of linkage was found for any measure of total triglycerides, and no linkage was observed in the black families from this study (43).
In a second linkage scan for apoB and LDL-C in the same family sample from the HERITAGE study, suggestive linkages were observed for training responses in LDL-C on 12q14.1 (LOD = 2.1) and in LDL-apoB on 20q13 (LOD = 2.2) (42). Significant or suggestive evidence for linkage was found on 1q41-q44 for baseline measures of LDL-apoB (LOD = 3.7), apoB (LOD = 2.9), and LDL-cholesterol (LOD = 2.1) in blacks. In whites, baseline measures of LDL-chol, LDL-apoB, and apoB were significantly or suggestively linked to chromosomal region 8q24 (LOD = 3.6, 3.3, and 2.5, respectively).
Hemostatic Factors, Inflammation Phenotypes and Plasma Hormone Levels
No new studies were published in 2005.
A significant interaction between physical activity and genotype (P < 0.01) was demonstrated in an analysis of the IGF1 gene on colon cancer outcomes. Homozygotes for a CA repeat polymorphism within the IGF1 gene ("192/192") who reported no habitual physical activity were almost 50% more likely to develop colon cancer (OR = 1.46, 95% CI = 1.08, 2.05), whereas active individuals with the 192/192 genotype experienced decreased risk for colon cancer (OR = 0.57, 95% CI = 0.39, 0.83) compared with active individuals not carrying the 192 allele (209). Similarly, for a single nucleotide polymorphism resulting in an amino acid change from glycine to alanine at codon 32 (Gly32Ala) within the insulin-like growth factor binding protein 3 (IGFBP3) gene, the protective effect of physical activity on colon cancer was only observed in male carriers of the Ala32 allele (P < 0.01) (130).
In a sample of 1577 colon cancer patients (1971 controls) and 794 rectal cancer patients (1001 controls), Slattery and colleagues reported no significant interactions between the Pro12Ala variant in the PPARG gene and energy expenditure (a surrogate of physical activity) in predicting cancer risk (210). In a sample of 4248 elderly white women, Modugno et al. also reported no association between risk for breast cancer and either the catechol-O-methyltransferase (COMT) Val158Met polymorphism or an isoleucine to valine variant at codon 462 in the CYP1A1 gene, a gene also involved in hydroxylation of free estrogen. There was no significant interaction when stratifying by physical activity (walking for exercise) (121).
Nine studies related to exercise intolerance were published in 2005 (Table 14). These studies reported mutations in four nuclear and five mitochondrial genes. Palmieri and coworkers reported a patient with exercise intolerance, lactic acidosis, and hypertrophic cardiomyopathy. A skeletal muscle biopsy revealed presence of ragged-red fibers and multiple deletions of muscle mitochondrial DNA. A mutation screening of muscle-specific adenine nucleotide translocator gene (SLC25A4) revealed a homozygous C to A transversion at nucleotide 368, which changed a highly conserved alanine residue to an aspartic acid at codon 123 (145).
Isackson et al. reported two Caucasian brothers with exercise intolerance and myoadenylate deaminase deficiency (74). Interestingly, neither brother carried the common Q12X nonsense mutation. Instead, they were compound heterozygotes for a K287I mutation in exon 7 and a novel CTTT deletion in intron 2. The K287I mutation is fairly frequent in general population, whereas the intron 2 mutation, which affects the splicing machinery, was found only in these patients. Skeletal muscle mRNA analysis revealed several alternatively spliced AMPD1 transcripts, with either partial or complete deletions of either exon 3 or exons 3 and 4. Moreover, the deletion seems to activate a cryptic splice site that results in an extension of the 5′ end of exon 4 (74).
A Danon disease patient with persistent hyperCKemia, exercise intolerance, and hypertrophic cardiomyopathy but with no muscle weakness or mental impairment was described by Musumeci et al (134). Skeletal muscle samples showed a vacuolar myopathy and a lysosome-associated membrane protein 2 (lamp2) deficiency. The lamp2 protein deficiency was caused by a novel T/C substitution at position 961 in exon 8 of the LAMP2 gene (134). Wang et al. reported an exercise-intolerant patient with severe mitochondrial myoptahy and 92% reduction in skeletal-muscle mitochondrial DNA content. The patient was a compound heterozygote for a T77M and R161K mutations in the thymidine kinase 2 (TK2) gene (247).
Mutations in five mitochondrial DNA genes were reported in exercise-intolerant patients. The only new gene to be introduced in the map was the mitochondrial transfer RNA aspartate (MTTD) gene. An A to G transition at position 7526 was identified in a young girl with pronounced exercise intolerance, decreased anaerobic threshold and V˙O2max, and decreased complex I and IV enzyme activity (202). A heteroplasmic T/C mutation at position 9789 in the mitochondrial cytochrome c oxidase subunit III (MTCO3) gene introducing a S195P change was found in skeletal muscle of a 22-yr-old exercise-intolerant patient (69). Blakely et al. reported a novel mutation in the mitochondrial cytochrome b (MTCYB) gene introducing an Arg318Pro substitution and a severe reduction of both complexes I and III in skeletal muscle (12).
Four new patients were reported carrying an A3302G mutation in the mitochondrial transfer RNA leucine (UUR) (MTTL1) gene. All patients had a mitochondrial myopathy, exercise intolerance, and proximal muscle weakness (70). Finally, Pulkes and colleagues reported a patient with isolated myopathy and exercise intolerance who carried both a C-insertion and a homoplasmic A to C transition at nucleotide position 7472 in the mitochondrial transfer RNA serine (UCN) (MTTS1) gene (156).
One new study on the associations between candidate gene markers and physical activity-related phenotypes was published in 2005 (Table 15). Loos and colleagues reported significant associations between a C/T polymorphism located 2745 base pairs upstream of the melanocortin 4 receptor (MC4R) gene start codon and physical activity phenotypes. Homozygotes for the rare T-allele had significantly lower moderate-to-strenuous physical activity levels and higher inactivity score than the other genotypes (105).
No new linkage studies were published in 2005.
SUMMARY AND CONCLUSIONS
This review provides a compendium of all genes and markers that have been associated with performance and health-related fitness phenotypes in scientific papers published by the end of 2005. Little progress has been made in the last 12 months with respect to the genetic basis of human variation in performance and health-related fitness. Indeed, although a growing number of genes are being identified, only a handful of them have been investigated with a view to assess whether DNA sequence variation in such genes play a role in the biological basis of human individuality.
The 2005 map includes 165 autosomal entries, five X chromosome assignments, and 17 mitochondrial DNA markers. There are 25 more nuclear markers and one more mitochondrial genome marker than in 2004. Given the complexity of the performance- and health-related fitness phenotypes, it should be obvious that we have a long way to go before we have a satisfactory understanding of the role of genetic inheritance on exercise-related traits and in the adaptation to a physically active lifestyle. Given the growing prevalence in obesity, type 2 diabetes, cardiovascular disease, and other chronic diseases associated with physical inactivity, an increased understanding of how the genetic susceptibilities that lead to these diseases may interact with exercise and physical activity interventions is urgently needed.
There is a growing number of genes with at least a minimum of evidence supporting their involvement in fitness- and performance-related phenotypes. This is illustrated by the trends in the number of loci from 2000 to 2005 for the families of phenotypes as defined in this review. Table 16 presents this synthesis for the 10 classes of phenotypes considered here. In each case, the number of genes or markers has increased slowly but steadily since the topic was first reviewed in 2000.
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CANDIDATE GENES; QUANTITATIVE TRAIT LOCI; LINKAGE; GENETIC VARIANTS; MITOCHONDRIAL GENOME; NUCLEAR GENOME; GENETICS
©2006The American College of Sports Medicine
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