Two case-control studies found significant results for the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism. Hruskovicova et al. (110) reported significantly different genotype and allele distributions between elite marathon runners and in-line marathoners compared with a group of sedentary controls. In Israeli endurance athletes, a higher number of D-allele carriers and D/D genotypes was seen comparing those athletes to healthy individuals (P = 0.01), with an even higher level of significance for the comparison with sprint athletes (P = 0.002) (5). Significantly different genotype frequencies (P < 0.0001) were reported for the intron 7 G/C genetic variant in the peroxisome proliferator-activated receptor alpha (PPARA) gene between endurance- and power-oriented athletes and nonathlete controls. In addition, the authors reported an association between the intron 7 G/C genotypes and the muscle fiber type distribution, with G/G homozygotes having a significantly higher percentage of slow-twitch fibers (P = 0.003) (3). Wolfarth et al. (344) compared elite endurance athletes with sedentary controls for the Arg16Gly polymorphism in the beta 2 adrenergic receptor (ADRB2) gene. An excess of Gly-allele carriers was seen in the sedentary controls indicating a negative association of this allele with respect to the performance status.
Three different case-control cohorts were investigated with respect to the actinin alpha 3 (ACTN3) gene R577X polymorphism. None of the articles reported different allele or genotype distributions comparing professional cyclists, ironman triathletes, and a mixed group of different Italian athletes with healthy controls (163,209,266). The distribution of the ACE I/D polymorphism was investigated in Korean male elite athletes, but no difference in genotype or allele distribution was found between this group and unrelated nonathletes (200). Finally, in a South African cohort of ironman triathlon athletes, there was no difference for the growth hormone 1 (GH1) 1663 T > A polymorphism genotype frequencies for 155 control subjects in comparison to the 169 fastest finishers of the triathlon event (331).
Polymorphisms in several xenobiotic metabolizing enzyme genes, glutathione S transferase pi (GSTP1), microsomal epoxide hydrolase (EPHX1), transforming growth factor beta 1 (TGFB1), serpin peptidase inhibitor E2 (SERPINE2), and surfactant, pulmonary-associated protein B (SFTPB), were examined for association to exercise capacity phenotypes in patients with emphysema enrolled in the National Emphysema Treatment Trial. Maximal exercise capacity was determined for all subjects via the use of cycle ergometry. Single nucleotide polymorphisms (SNP) in EPHX1 (rs1877724 and rs1051740) were associated with maximum work and low exercise capacity (P = 0.0002-0.03), whereas polymorphisms in LTBP4 (rs2303729, rs1131620, rs1051303, and rs2077407) were associated with maximum work (P = 0.0001-0.03), low exercise capacity (P = 0.0001-0.02), and 6-min walking test distance (P = 0.04-0.05). A short tandem repeat marker in the SFTPB gene (D2S388) was associated with low exercise capacity (P = 0.05) and 6-min walking test distance (P = 0.005) in these patients (106).
In addition, four articles with pure cross-sectional approaches showed no significant associations of endurance phenotypes and different polymorphisms in ADRB2 (285), NOS3 (96), ACE (45), and solute carrier family 6 (neurotransmitter transporter, serotonin) member 4 (SLC6A4) (265) genes.
In the HERITAGE Family Study, a peroxisome proliferator-activated receptor delta (PPARD) polymorphism was associated with physical performance. In black subjects, the exon 4 + 15 C/C (rs2016520) homozygotes showed a smaller training-induced increase in maximal oxygen consumption compared with the C/T and the T/T genotypes. Similarly, in black subjects, a lower training response in maximal power output was observed in the exon 4 + 15 C/C homozygotes compared with carriers of the T-allele. In white subjects, a similar trend was observed (99). In a lifestyle intervention study of diet and PA, the rs2267668 SNP in the PPARD and the Gly482Ser polymorphism in the peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A) gene showed associations with the changes in anaerobic threshold (289). The authors reported lower anaerobic threshold response in carriers of the G-allele of SNP rs2267668 compared with the A/A genotype. Less increase in anaerobic threshold was also observed in carriers of the Ser482-encoding allele compared with the Gly/Gly genotype (P < 0.004). In addition, the authors reported evidence for additive effects of the PPARD and the PPARGC1A SNP on the effectiveness of aerobic exercise training to increase anaerobic threshold (289). In an 18-wk training study with 102 recruits from China, two polymorphisms in the hemoglobin beta (HBB) gene were associated with the training response of running economy (103). In the same cohort, associations between V˙O2max values and beta 2 subunit of GA binding protein transcription factor (GABPB2) genotype were observed for the rs12594956, rs8031031, and rs7181866 loci. Individuals carrying the ATG haplotype of all three loci had 57.5% greater exercise training-related improvement in running economy (measured as V˙O2 during submaximal exercise) than noncarriers (102).
Polymorphisms of the mitochondrial transcription factor A were investigated before and after an 18-wk controlled endurance training program in Chinese nonathletes. They found no association and concluded that these polymorphisms do not predict endurance capacity or its trainability in Chinese male (101). Two more studies investigated endurance phenotypes before and after training targeting polymorphisms in the muscarinic 2 cholinergic receptor (CHRM2) gene and a promoter polymorphism in the apolipoprotein A1 (APOA1) gene. Both studies found no associations with V˙O2max at baseline or after the training intervention (100,259).
No new linkage studies on performance-related phenotypes were published in 2006-2007 (Table 4).
In 2006-2007, three studies reported case-control associations for athletes specializing in strength-related or anaerobic performance activities. All such studies are shown in Table 5, although some crossover exists with Table 2 for those studies that also include endurance athletes.
The studies reporting candidate gene associations with muscle strength or anaerobic performance phenotypes are summarized in Table 6. In 2006-2007, 16 studies reported positive genetic associations with muscle strength-related phenotypes, although several studies reported mixed findings for specific genes or polymorphisms within gene regions.
During 2006 and 2007, 17 studies were published that assessed the impact of genetic variants on hemodynamic responses to acute exercise (Table 7). Snyder et al. (285) studied the cardiovascular (CV) hemodynamics of 64 young Caucasian men at rest and during a continuous exercise protocol consisting of 9 min at 40% and another 9 min at 75% of their peak cycle ergometer work rate. They fairly consistently found that Arg16/Arg16 genotype individuals at the Arg16Gly ADRB2 locus had lower plasma norepinephrine levels and lower cardiac output (Q˙), stroke volume (SV), and mean arterial pressure at both work rates compared with Gly16/Gly16 genotype individuals.
Nieminen et al. assessed the effect of several genes on heart rate (HR) and blood pressure (BP) responses to exercise in 890 middle- to older-age men and women in the Finnish CV Study (199). Their Gly389 homozygotes at the ADRB1 gene locus had higher maximal exercise systolic BP (P = 0.04) and a greater change in systolic BP from rest to maximal exercise (P = 0.03) than heterozygotes and Arg homozygotes at this locus. Furthermore, in women, Gly389 homozygotes had lower maximal exercise HR than the two other genotype groups (P = 0.04). They also found that Arg homozygotes at this locus were less likely to have ventricular extrasystoles during exercise (odds ratio [OR] = 0.68, P = 0.009) than Gly-allele carriers at this locus. They also reported a tendency for the ADRB1 Ser49Gly polymorphism to affect exercise HR (P = 0.06). The T393C polymorphism at the GNAS1 gene locus significantly affected the HR response during exercise and recovery (P = 0.04).
In addition to performing genome-wide linkage scans (see Linkage studies section), Ingelsson et al. (115) also assessed genotype associations for 235 SNP in 14 putative CV genes relative to exercise treadmill test responses in 2982 participants in the Framingham Offspring Study. They found the following nominal associations: ADRA1A (rs489223) and exercise systolic BP (P = 0.004); AGT (rs2493136; P = 0.003), ADRA1D (rs835873; P = 0.008), and exercise diastolic BP; ACE (rs4305; P = 0.01), ADRA1A (rs544215; P = 0.005), ADRA1D (rs3787441; P = 0.007), and exercise HR; ADRA1A (rs483392; P = 0.005), ADRA1A (rs7820633; P = 0.005), and recovery systolic BP; ADRA1A (G2286a1) and recovery diastolic BP (P = 0.009); and ADRA1B (rs11953285) and recovery HR (P = 0.01). However, none of these associations remained significant after accounting for multiple testing.
During 2006 and 2007, three published studies assessed the interactive effect of genetic variants and PA levels on hemodynamic phenotypes (Table 7). Rankinen et al. (231) in the HYPGENE Study compared EDN1 genotype and haplotype frequencies between hypertensive cases (n = 607) and matched controls (n = 586). They found that two SNP (rs2070699 and Lys198Asn) significantly interacted with CV fitness to affect the risk of hypertension with the genotype-dependent relationship for both SNP being evident in the low-fit but not the high-fit individuals. Analyses of haplotypes constructed from these two SNP substantiated the significant effect of these SNP interacting with CV fitness on hypertension risk.
During 2006 and 2007, 10 published studies assessed the effect of genetic variants on hemodynamic responses to exercise training (Table 8). Rankinen et al. (231) in the HERITAGE Cohort assessed the effect of EDN1 genotypes and haplotypes on exercise training-induced changes in hemodynamic phenotypes to determine whether they supported their cross-sectional findings reported above in the HYPGENE Cohort. They found that in whites in the HERITAGE Cohort, two EDN1 SNP (Lys198Asn and rs4714383) were significantly associated with the training-induced responses of systolic BP and pulse pressure at a 50-W work rate. They also found that haplotypes across these two loci accounted for 2.6% and 3.5% of the interindividual variance in the training-induced responses of systolic BP and pulse pressure at a 50-W work rate, respectively, whereas the contribution of the individual SNP ranged from 0.8% to 1.7%.
During 2006 and 2007, two studies was published that assessed linkage and CV hemodynamic phenotype changes with exercise training (Table 9). An et al. (6) performed a genome-wide linkage scan using 654 markers to identify QTL for the response of resting HR to exercise training in the HERITAGE Cohort. In whites, they found multipoint linkages (P < 0.01, logarithm of odds [LOD] >1.18) for the change in resting HR with exercise training at the 1q42.2 and the 21q22.3 chromosomal loci. In blacks, linkage was detected at the 3p14.1, 3p14.2, 3p21.2, 20p11.23, and 21q21.1 chromosomal loci.
In the past 2 yr, seven studies tested the association between candidate genes and BMI, body composition, or bone mineral density (BMD) taking into account the interaction with physical activity (PA; Table 10). A study in 1068 men from the Gothenburg Osteoporosis and Obesity Determinants study revealed that a functional polymorphism (Val158Met) in the catechol-O-methyltransferase (COMT) gene, resulting in a lowered enzyme activity, modulated the association between PA and BMD assessed by dual-energy x-ray absorptiometry (158). A significant interaction (P < 0.0001) was found for whole-body mineral density, and stratified analyses revealed significant differences in BMD between high (≥4 h·wk−1) and low (< 4 h·wk−1) PA groups in subjects carrying the low-activity variant (Val159Met and Met158Met subjects) compared with subjects homozygous for the high-activity allele (Val158Val subjects), suggesting that the beneficial impact of PA on BMD is greater in the former than in the latter. In a sample of 1797 unrelated subjects (868 men and 929 women) from the Framingham Offspring cohort, Kiel et al. (134) tested the hypothesis that polymorphisms in the low-density lipoprotein receptor-related protein (LRP5) gene could modulate the relationship between PA and BMD. Significant evidence of interaction between SNP in exon 10 (rs2306862; P = 0.02) and exon 18 (rs3736228; P = 0.05) and PA on BMD of the spine was observed in men. Another study undertaken in 190 postmenopausal women revealed evidence of interaction between a polymorphism in a transcription factor Cdx-2 binding site in the promoter of the VDR gene and a PA on the femoral neck and Ward's triangle BMD (81).
We found seven studies that tested association with candidate genes and adiposity phenotypes in response to exercise and five reported positive findings (Table 10). In the first study, the effects of several SNP in the resistin (RETN) gene were tested for association with changes in upper arm subcutaneous fat and cortical bone volumes measured by magnetic resonance imaging before and after 12 wk of a resistance training program of the nondominant arm in 120 men and 203 women (221). No evidence of association was found with changes in subcutaneous fat, but two RETN SNP were associated with changes in the cortical bone volume in women (398 C > T and 980 C > G) and in men (980 C > G). In the second study, 84 Korean women with abdominal obesity were tested before and after 12 wk of aerobic (walking) exercise, and changes in body fat were found to be associated with a polymorphism (K121Q) in the gene ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) encoding the plasma cell membrane glycoprotein PC-1 (211). Women homozygotes for the K-allele exhibited greater reductions in body weight (P = 0.002) and BMI (P = 0.03) compared with women carrying the Q-allele.
The third study tested the association of body weight changes during ironman triathlons with polymorphisms in the ACE, BDKRB2, NOS3, and solute carrier family 6 (neurotransmitter transporter, and serotonin) member 4 (SLC6A4) genes in 428 triathletes (265). Two functional polymorphisms in the BDKRB2 and the SLC6A4 genes were found to be associated with larger weight losses in the triathletes. The fourth study investigated the association between the PPARA L162V polymorphism and the upper arm subcutaneous fat in response to resistance training in 610 young men and women (315). Increases in the fat volume of the untrained arm were observed in male (n = 146) carriers of the V-allele after exercise training compared with a decrease in subjects with the LL genotype. According to the authors, this finding is a consequence of the 78% increase in triglycerides found in the V-allele carriers compared with the homozygous genotype (315). In the fifth study, CT-assessed changes in intermuscular fat in response to 10 wk of single-leg strength training were examined in relation to polymorphisms in the ADRB2 and the ADRA2B genes in 98 men and women (352). Decreases in intermuscular fat were found to be significantly different between carriers and noncarriers of the ADRA2B Glu(9) polymorphism.
Two other studies provided negative findings. In one of these, the influence of the ADRB3 Trp64Arg polymorphism on weight loss after a 3-month lifestyle modification program was investigated in 65 obese patients (47). The program consisted of a hypocaloric diet combined with three sessions (60 min each) of aerobic exercise per week. Significant reductions of body weight, BMI, fat mass, and waist circumference were observed in both carriers and noncarriers of the Arg64 allele. Although the authors reported that carriers of the Arg64 allele had a different response than noncarriers, no evidence could be found in the data presented that the response was statistically different between the two genotype groups, as only differences between pre- and postvalues within each genotype group were reported (47). For that reason, and despite the claim of the authors, the results of this study are considered as negative. In another study using the same cohort and lifestyle modification program, de Luis et al. (48) investigated the influence of the LEPR Lys656Asn polymorphism on weight loss and leptin changes. As in the previous study, they reported a different response between body weight, BMI, and leptin levels between Lys656Lys subjects and carriers of the Asn allele, but no formal tests of the differences between the two genotype groups were reported.
No new linkage studies on anthropometry and body composition-related phenotypes were published in 2006-2007 (Table 11).
Using data from 481 participants of the Finnish Diabetes Prevention Study followed-up for an average of 4.1 yr, Laaksonen et al. (143) found an interaction (P = 0.03) between the ADRA2B 12Glu9 polymorphism, which consists of a deletion of 9 bp encoding three glutamic acid residues, and the changes in PA on the risk of developing T2DM. Increased PA was associated with a reduced risk of T2DM but only in subjects with the Glu12/12 (RR = 0.12) and Glu12/9 (RR = 0.30) genotypes. In another study based on data from the same cohort (135), the association of polymorphisms in the solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), ATP-binding cassette, subfamily C (CFTR/MRP), member 8 (ABCC8), and potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) genes with the conversion from impaired glucose tolerance (IGT) to T2DM according to changes in PA level was studied in 479 subjects. Three polymorphisms in the SLC2A2 gene as well as one polymorphism in the ABCC8 gene provided significant evidence of interaction with changes in moderate-to-vigorous PA (≥3.5 METs) in predicting the conversion from IGT to T2DM. In all cases, increased moderate-to-vigorous PA, independent of the changes in diet and body weight, was associated with a reduced risk of T2DM, but only in carriers of the common homozygous genotypes (135). The impact of lifestyle modification (dietary counseling and endurance exercise for 9 months) on changes in insulin sensitivity measured in 139 subjects was tested for association with polymorphisms in the PPARD (three SNP) and PPARGC1A (one SNP) genes (289). Two polymorphisms in the PPARD gene were associated with changes in fasting insulin and insulin sensitivity, whereas no association was found with the PPARGC1A gene. The associations between three polymorphisms in the 4.5 LIM domain 1 (FHL1) gene and insulin responses to endurance training were investigated in participants from the HERITAGE Family Study (298). In white men (n = 221), two polymorphisms in the FHL1 gene were associated with fasting insulin, the disposition index and the glucose disappearance index responses to exercise training. In white women (n = 207), one polymorphism was associated with the glucose disappearance index training response. In the study of de Luis et al. (47) described in the Response to exercise section, significant improvements of glucose levels and insulin sensitivity in response to the lifestyle modification program were reported in subjects with the ADRB3 Trp64Trp genotype compared with no improvements in carriers of the Arg64 allele. However, as explained above, in the absence of a statistical test showing a difference between the two genotype groups, we treated this result as a negative finding.
A total of six new articles were published in 2006/2007 that analyzed genetic association or linkage for lipid responses to acute or chronic exercise and/or PA (Table 14). Seip et al. (276) investigated the effect of APOE genotype on lipoprotein subclass concentrations in response to 6 months of submaximal aerobic exercise training. LDL particle fractions changed significantly after exercise training as a function of genotype, with medium LDL cholesterol (LDL-C) increasing in APOE3/3 homozygotes and decreasing significantly differently from the APOE3/3 genotype class (P < 0.01) in individuals with APOE2/3 or APOE3/4 genotypes. Conversely, small LDL-C increased in APOE2/3 and APOE3/4 heterozygotes and decreased in subjects with the APOE3/3 genotype class, which was significantly different from APOE2/3 and APOE3/4. Although other lipid fractions (all VLDL fractions, large LDL, and small and large HDL) were altered by exercise training, these alterations were not different by APOE genotype (276). In a separate intervention study, participants underwent a lifestyle modification program that consisted of a hypocaloric diet combined with aerobic exercise three times per week for 12 wk (46). Levels of LDL-C were significantly lower by genotype at the Ala54Thr variant in the FABP2 gene after the intervention. Ala54/Ala54 homozygotes had significantly lower LDL levels after exercise/diet intervention, whereas no significant differences were observed in carriers of the Thr54 allele (46).
Only one investigation provided linkage data relevant to blood lipid phenotypes. Feitosa et al. (66) performed a linkage analysis in 99 white and 101 black families, with 654 markers covering the human genome. Significant linkage was observed on chromosome 12q23-q24 for baseline values of HDL-C and TG in white families but not in black families. Weak but nonsignificant signals for HDL-C after exercise training were found for whites but not for blacks (66).
Exercise-induced hyperinsulinism (EIHI) is a dominantly inherited disorder that features a paradoxical increase in insulin secretion during anaerobic exercise resulting in hypoglycemia. Otonkoski et al. (205) mapped a QTL for EIHI on chromosome 1 (LOD = 3.6) in two families with 10 EIHI patients. The strongest candidate gene located under the linkage peak was SLC16A1, which encodes monocarboxylate transporter 1. Mutation screening of SLC16A1 revealed promoter mutations in all investigated EIHI patients. Functional studies revealed that the promoter mutations induced a marked transcriptional stimulation of the gene in pancreatic beta cells, where SLC16A1 expression is normally very low. When lactate and pyruvate levels increase during exercise, the abnormally high expression of SLC16A1 in EIHI patients facilitates pyruvate uptake in beta cells and leads to pyruvate-stimulated insulin release although blood glucose level is normal or even low. Finally, Liang et al. (154) reported a novel mutation in codon 520 of the lamin A/C (LMNA) gene in an exercise intolerance patient diagnosed with Emery-Dreifuss muscular dystrophy.
Seven studies reported mutations in four mitochondrial genes in exercise intolerance patients. Additional exercise intolerance patients were reported with a 3243A > G mutation in the MTTL1 locus (316) and novel mutations in the MTTK (19,76) and the MTTE loci (169,207). A new mitochondrial gene entry to the fitness gene map is MTTF that encodes phenylalanine transfer RNA. Darin et al. (43) reported an MTTF 583G > A mutation in a 17-yr-old girl with mitochondrial myopathy and exercise intolerance, whereas a 622G > A mutation was identified in a 66-yr-old woman with a late-onset neuromuscular disease and exercise intolerance (58).
During 2006 and 2007, three studies dealing with DNA sequence variation and PA-related traits were published (Table 16). Richert et al. (245) investigated associations between Gln223Arg polymorphism in the leptin receptor (LEPR) gene and total PA in 222 prepubertal boys. PA level was assessed twice, first at the age of 7 yr and a second time 2 yr later when boys were 9 yr old. Activity level was assessed using questionnaires, and total activity was expressed as PA energy expenditure. The LEPR Arg223Arg homozygotes had a significantly lower PA level than the other two genotypes at baseline (7 yr old), but the difference had disappeared 2 yr later (245).
A genome-wide linkage scan for participation in competitive sports was performed in 700 female dizygotic twins (50). Participation history (athlete status) was obtained by asking if the subjects had ever participated in competitive sports and at what level they had competed. A heritability estimate of 66% was derived for athlete status. The genome-wide linkage scan using 1946 markers (736 microsatellites, 1210 SNP) revealed two suggestive QTL on chromosomes 3q22-q24 (LOD = 2.35) and 4q31-q34 (LOD = 1.87) (50).
In this current version of the performance and health-related fitness gene map, we report 27 new autosomal or X-linked genes, one mitochondrial variant, and 24 QTL identified as being associated with fitness or performance traits or exhibiting gene-PA or gene-exercise training interactions since the previous version of the map. A total of 221 autosomal and X-linked genes and 18 mitochondrial markers have been shown to be associated with a relevant phenotype in at least one study, whereas 119 QTL have been reported for exercise- or PA-related traits. Table 17 provides an overview of the evolution of the interest in genetics of fitness and performance traits by family of phenotypes or endophenotypes since the first version of the map in 2000. The ACE gene continues to be by far the most extensively studied of any gene, with at least 58 articles examining the effect of an insertion/deletion polymorphism on fitness and performance traits. The conflicting findings among the many studies for the ACE gene exemplify the complexity of genetic studies of complex traits. Indeed despite the enormous amount of attention that the ACE gene has received, it is still not possible to conclude with certainty whether the common polymorphism in ACE is truly involved in human variation in fitness and performance phenotypes and their response to regular exercise. This is primarily, but not exclusively, due to the fact that studies are almost universally underpowered and because an unknown number of negative studies remain unpublished. In addition to ACE, several other genes are characterized by at least five positive findings; they are ADRB2 (17 studies), VDR (15 articles), APOE (9 studies), MTCYB (9 studies), NOS3 (9 studies), PPARG (6 studies), and ACTN3, ADRB1, AGT, AMPD1, BDKRB2, CPT2, and IGF1 each with five positive articles.
Although the fitness and performance gene map is exhaustive for published accounts in four languages, many other genes have not been investigated yet for their potential contributions to human variation in fitness or performance or trainability. The role of regular PA in reducing the risk for common, chronic diseases such as CV disease, type 2 diabetes, or obesity is generally considered as well established, but the interactions between the specific genes and the benefits accrued from a physically active lifestyle in terms of health outcomes have not received much attention thus far. The same is true for the individual differences in the risk level associated with a sedentary lifestyle. We do not know whether specific genes confer a higher risk or conversely some protection from being chronically sedentary and inactive. Addressing the latter questions is extremely important if we are going to make progress in our understanding of the true role of regular exercise or PA in the prevention of common chronic disease and of physical inactivity in the risk of premature death. Much research is also needed on the genetic basis of a sedentary lifestyle and on the propensity to engage in regular PA. For such a research enterprise to be successful, it is of the utmost importance that it be of very high quality, a requirement that can be attained only through data sharing, collaborative effort, and multicenter studies.
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