This review presents the 2003 update of the human gene map for physical performance and health-re... more This review presents the 2003 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 2003 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 first edition of the map. In contrast, the 2003 human gene map for physical performance and health-related phenotypes includes 109 autosomal gene entries and QTL, plus two on the X chromosome. Moreover, there are 15 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Key Words: CANDIDATE GENES, QUANTITATIVE TRAIT LOCI, LINKAGE, GENETIC VARIANTS, MITOCHONDRIAL GENOME, NUCLEAR GE-NOME T his paper constitutes the fourth 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 2003. 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, using a combination of key words (e.
Medicine and Science in Sports and Exerciseersie, 2004
We began this series in 2000 with the aim of making available in an easily accessible format all ... more We began this series in 2000 with the aim of making available in an easily accessible format all the advances on the genetic basis of a large family of exercise-related traits. The current review presents the 2004 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 2004. 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. One new feature is that we have incorporated the genes whose sequence variants have been associated with either the level of physical activity or indicators of sedentarism. By the end of 2000, in the early version of the gene map, 29 loci were depicted. In contrast, the 2004 human gene map for physical performance and health-related phenotypes includes 140 autosomal gene entries and quantitative trait loci, plus four on the X chromosome. Moreover, there are 16 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is growing in complexity and progress is being made. The number of laboratories and scientists concerned by the role of genes and sequence variations in exercise-related traits is rising. But exercise science and sports medicine is generally lagging behind in terms of utilizing the advances in genetic and genomic technologies. Key Words: CANDIDATE GENES, QUANTITATIVE TRAIT LOCI, LINKAGE, GENETIC VARIANTS, MITOCHONDRIAL GENOME, NUCLEAR GENOME, GENETICS T his paper constitutes the fifth 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 2004. 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.
This review presents the 2002 update of the human gene map for physical performance and health-re... more 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. Key Words: CANDIDATE GENES, QUANTITATIVE TRAIT LOCI, LINKAGE, GENETIC VARIANTS, MITOCHONDRIAL GENOME, NUCLEAR GENOME
RANKINEN, T., L. PÉ RUSSE, R. RAURAMAA, M. A. RIVERA, B. WOLFARTH, and C. BOUCHARD. The human gen... more RANKINEN, T., L. PÉ RUSSE, R. RAURAMAA, M. A. RIVERA, B. WOLFARTH, and C. BOUCHARD. The human gene map for performance and health-related fitness phenotypes: the 2001 update. This review presents the 2001 update of the human gene map for physical performance and health-related phenotypes. It is based on scientific papers published by the end of 2001. 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. 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, there were 29 loci depicted on the map. The 2001 map includes 71 loci on the autosomes and two on the X chromosome. Among these genes or markers, 24 are from prior publications on exercise intolerance and four relate to other pathologies. Finally, 13 sequence variants in mitochondrial DNA have been shown to influence relevant fitness and performance phenotypes.
The human gene map for performance and health-related fitness phenotypes.. The aim of this paper ... more The human gene map for performance and health-related fitness phenotypes.. The aim of this paper is to describe the first human gene map for physical performance and health-related fitness traits based on the papers published until the end of 2000. Studies of candidate genes using case-control and other designs are reviewed. Quantitative trait loci from the limited evidence reported to date in genomic scans are also incorporated. Performance and fitness phenotypes in the sedentary state as well as their changes during exercise, if applicable, or in response to exercise training are considered. Physical performance traits include cardiorespiratory endurance indicators and muscular strength or muscular performance variables. Health-related fitness phenotypes are grouped under the following categories: hemodynamic traits; anthropometry and body composition; insulin and glucose metabolism; and lipids, lipoproteins, and hemostatic factors. A yearly update of this human gene map will be published.
OBJECTIVE: To examine the hypothesis of an association between a mtDNA D-loop Kpn I restriction s... more OBJECTIVE: To examine the hypothesis of an association between a mtDNA D-loop Kpn I restriction site polymorph-ism (RSP) at base pair (bp) 16,133 (morph-1) and obesity in women. DESIGN: Comparisons of carriers and noncarriers of the mutation for BMI (Body Mass Index) levels and of the frequency of the mutation in obese and normal weight women. SUBJECTS: 567 unrelated adult Caucasian non-diabetic women from the HERITAGE Family Study (n 63; BMI: 15 ± 47 kgam 2), Que  bec Family Study (QFS; 77 controls, BMI: 19 ± 26 kgam 2 and 38 obese, BMI: 27 ± 56 kgam 2) and Swedish Obese Subjects (SOS) Study (81 controls, BMI: 18 ± 26 kgam 2 and 308 obese, BMI: 33 ± 58 kgam 2). MEASUREMENTS: BMI was calculated from weight and height (kgam 2). mtDNA was ampli®ed between base pair 15,928 and 16,500 by polymerase chain reaction (PCR) and digested with the restriction endonuclease Kpn I. RESULTS: No signi®cant differences in the age-adjusted BMI for the mtDNA D-loop Kpn I RSP at base pair (bp) 16,133 (morph-1) between carriers and non-carriers in the HERITAGE cohort. No signi®cant association was found between BMI and the Kpn I RSP carrier status in the SOS and QFS cohorts. The observed frequencies for the Kpn I RSP were not signi®cantly (P b 0.05) different between the SOS controls and SOS obese irrespective of the degree of severity of obesity (BMI b 40, b 45 or b 50 kgam 2). CONCLUSION: We conclude that the mtDNA D-loop Kpn I RSP at bp 16,133 (morph-1) is not a determinant of human obesity.
This study examined the associations between elite endurance athlete (EEA) status and three mitoc... more This study examined the associations between elite endurance athlete (EEA) status and three mitochondrial DNA (mtDNA) restriction fragment length polymorphisms (RFLPs) in the subunit 5 of the NADH dehydrogenase (MTND5) locus and one in the D-loop region. A group of 125 Caucasian male EEA well endowed with the phenotypic expression of ˙VO 2max (78.9 ± 3.8 mL·kg-1 ·min-1 , mean ± SD) and 65 sedentary controls (SCON: ˙VO 2max = 39.8 ± 8.2 mL·kg-1 ·min-1) participated in the study.˙VO 2max was determined during an incremental exercise test on a cycle ergometer or a motor-driven treadmill. mtDNA was extracted from white blood cells or lymphoblastoid cell lines and specific regions were amplified by the polymerase chain reaction. The Pearson Chi-square statistic test and Fisher exact test revealed no significant association (P > 0.05) between any of the three mtDNA RFLPs and EEA status. The MTND5-BamHI RFLP at bp 13,470 (morph 3) was found in 12.8% of the EEA and 12.3% of the SCON (χ 2 = 0.009, P = 0.92). The prevalence of the MTND5-NciI RFLP at bp 13,364 (morph 2) was 12.9% and 14% for the EEA and SCON, respectively (χ 2 = 0.043, P = 0.83). The D-loop-KpnI RFLP at bp 16,133 (morph 1) was found in 5.8% of the EEA and in 1.6% of the SCON (Fisher exact test = 1.80, P = 0.18). The MTND5-HincII RFLP at bp 12,406 (morph 1) was not present in this study sample. These results indicate no evidence for a difference in the frequency of two polymorphic restriction sites in the subunit 5 of the NADH dehydrogenase gene of mtDNA and one in the D-loop region between elite endurance athletes and sedentary controls.
Accepted after revision: April 30.1995. I I I The purpose of this studywas t o testtheeffect of i... more Accepted after revision: April 30.1995. I I I The purpose of this studywas t o testtheeffect of increased fluid intake on temperature regulation and performance in elite soccer players. Eight players of the Puerto Rico National Team were studied under field conditions at a Wet Bulb Globe Temperature (WBGT) heat stress index of 25.3k0.5 "C. They were young (17.0 f 0.6 yr) and well aerobically conditioned. as shown by their maximum aerobic power of 69.2 f 0.7 ml. kg-'. min-'. Players were randomly allocated t o a week of voluntary hydration (VH) (fluid intake = 2.7 k 0.2 1. day1) and a week of hy-perhydration (HH) (fluid intake = 4.6 k0.2 I-day1) (p < 0.05) prior to a soccer match. Their total body water (TBW) increased in HH compared t o VH (p < 0.05). despite a significant increase in urine output (p < 0.01). The soccer match was played a t 82 +7 % (VH) and 83 + 6 % (HH) of maximum heart rate. Sweat losses and core temperature increases during the match were similar in both hydration conditions. When the environmental conditions were taken into consideration, the increase in core temperature during the match rose, as a function of the heat stress index, only in VH (p < 0.05). Plasma volume was slightly reduced in both hydration conditions (ns). Performance assessment at the end of the soccer match revealed that average time to complete 7 repetitions of a soccerspecific testwas significantly increased (p < 0.05) after the match in both hydration conditions but showed no difference between them. Peak torqueand fatiga-bility of knee flexor and extensor musclegroupsat 240 deg. sec-I. measured on a Cybex 340 dynamometer, were similar in both hydration conditions and not affected by the soccer match. The data suggest that additional water intake in these heat-accli-mated players increased body water reserves and improved temperature regulation during a soccer match with no significant effect on the decrement in soccer specific performance observed at the end of a soccer match. % !
This study examined the test-retest reliability of ~ 0 , m a x in adolescent VO, plateau achiever... more This study examined the test-retest reliability of ~ 0 , m a x in adolescent VO, plateau achievers and nonachievers. Nineteen male long-distance runners completed a modified Taylor running protocol to volitional fatigue twice within a one-week period. Results showed that 10 subjects did not achieve a plateau in either test (No P), and 9 achieved a plateau in at least one of the tests (P). The ~ 0 , m a x differed (p < .05) between tests (Test 1 and Test 2) for the entire sample (Test 1 = 70.4 + 6.0, Test 2 = 71.7 f 6.3) but not within the groups (No P, Test 1 = 72.1 f 4.4, Test 2 = 73.2 + 4.2; P, Test 1 = 68.5 + 7.3, Test 2 = 70.1 + 7.9). ~ 0 , m a x was similar for plateau achievers and nonachievers in both Test 1 and Test 2 (p > .05). Interclass correlation coefficients for ~ 0 , m a x were high for both the No P (R = 37) and P (R = .97) groups. A high test-retest reliability coefficient for ~ 0 , m a x can be obtained evenq when a plateau in ~ 0 , is not achieved. A test that measures a physiological variable must be valid and reliable. It must measure what it is intended to measure consistently and in a reproducible manner when properly administered (10). The inherent day-today variability of a useful and reliable physiological measurement is smaller than the effects of interventions such as training. Maximal oxygen consumption (V02max) during progressive treadmill exercise is considered a reliable measure of cardiorespira-tory capacity. Reliability coefficients ranging from r =. .81 to r = .97 and R = .90 have been reported for repeated measurements of V02max in children and adolescents during running treadmill exercise (3, 4, 7, 12, .14). However, these studies do not report the frequency of achievement of the V02 plateau criterion in relation to the reliability of V02max. The ~0~ plateau phenomenon is the most frequently utilized criterion to define a "true" \jo2max during exercise tests to volitional fatigue. However, studies with children and adolescents have shown that a high percentage of those who perform maximal treadmill exercise tests to volitional fatigue satisfy the respiratory exchange ratio and heart rate criteria for V02max, but do not exhibit
The purposes of this study were to examine the thermoregula-tory and body fluid balance responses... more The purposes of this study were to examine the thermoregula-tory and body fluid balance responses in chronically heat acclimatized children , i.e., indigenous to a tropical climate, during exercise in four outdoor conditions and the effects of dehydration on their thermoregulatory response. Nine children (age = 13.3 ? 1.9 yr, V0,max = 45.5 ? 9.2 ml. kg-'. rnin-lj cycled a t 60% VOsmax each under four conditions: sun exposure voluntary drinking (SuVD), sun exposure forced drinking (SuFD), shaded voluntary drinking (ShVD), and shaded forced drinking (ShFD). Exercise sessions consisted of four 20-min exercise bouts alternating with 25-min rest periods. Globe temperature and the WBGT index were higher during SuVD and SuFD
This study examined. the effects of three testing protocols on the frequency of achievement of V0... more This study examined. the effects of three testing protocols on the frequency of achievement of V02max criteria in 13 male adolescent long-distance runners. All subjects completed the modified Taylor (T), Bruce (B), and Taylor intermitten! (TI) running protocols on a treadmill to volitional fatigue. The criteria for V02max were (a) respiratory exchange ratio (R) 1.0, (b) heart rate (HR) 2 95% predicted max, and (c) increase in V02 5 2.1 ml.kg-'.min-l with an increase in workload. A plateau was identified in 54%, 39%, and 85% of the subjects during the T, B, and TI protocols, respectively (p < .05). V02 at exhaustion was similar during all protocols (T = 70.8 f 4.1, B = 71.4 If: 3.5, TI = 69.6 If: 5.0 ml.kg-'.mid; p > .05). The data suggest that the characteristics of a protocol can determine the frequency of a plateau achievement but have no effect on the attainment of the R or HR criteria. V02 during running exercise to volitional fatigue is independent of testing protocol. Evaluating the effects of aerobic training programs on the cardiorespiratory capacity of adolescents requires the identification of precise initial and.follow-up maximal oxygen consumption (V02max) values. The measurement of V02max entails a progressive exercise test to volitional fatigue. Established criteria are used to determine if a subject has achieved a true maximal effort (3). A plateau in \jo2 has been identified as the most objective criterion for establishing a valid ~ 0 , m a x value in adults, children, and adolescents (22). Other valid indicators of the limits of the cardiorespiratory system commonly utilized (2, 14, 15, 20) as criteria for V02max in adolescents are a respiratory exchange ratio (R) 2 1.0 and a heart rate (HR) 2 95% of the predicted maximal or a leveling off at peak exercise. Although the R and HR criteria .xe used in conjunction with the plateau criterion, most investigations establish a V02max value based solely on the latter. If a plateau is not observed, the highest VO, value is considered V02 peak and not V02max. A low rate of achievement of the plateau criterion has been reported in adolescent.untrained and active subjects (1, 2, 6, 7, 15, 16, 20). It is possible that a true VOlmax value is not easily identified in children or adolescents because
RESUMEN El propósito de esta investigación fue describir y comparar una serie de características ... more RESUMEN El propósito de esta investigación fue describir y comparar una serie de características antropométricas, de composición corporal, cardiorrespiratorias, metabólicas y neuromusculares de futbolistas puertorriqueños menores de 20 años [Categoría 1, CAT1 (18-19 años) n = 4, CAT2 (16-17 años) n = 13 y CAT3 (14-15 años) n = 4] y efectuar comparaciones con futbolistas de diferentes países del mundo reportados en la literatura. El estudio de las diferencias entre los promedios de las CAT controlando la edad se hizo con el procedimiento estadístico de ANCOVA. No se evidenciaron diferencias cuantitativas entre CAT. El grupo total (16,3 ± 1,2 años) mostró un grado de masa corporal y talla (61,3 ± 1,2 Kg y 169,1 ± 7,1 cm) similar al de jugadores latinoamericanos de iguales CAT, un somatotipo (2,6-4,7-3,0) mesomórfico balanceado, un % de grasa (10,5 ± 3,5%) levemente mayor que el promedio mostrado por jugadores de calibre internacional, un bajo nivel de masa corporal activa (54,7 ± 6,5 Kg), un nivel de flexibilidad (31,1 ± 6,8 cm) bajo el promedio de jugadores norteamericanos de la misma CAT y un V02 max (59,1 ± 4,5 ml/Kg.min) dentro de la amplitud demostrada en la literatura por jugadores profesionales internacionales. El nivel de función neuromuscular (Cybex 340) mostró patrones normales de fortaleza en la musculatura de rodilla (torque sumo extensión 60°.seg-1 = 170,1 ± 33,5 N.m., torque sumo flexión 240°.seg-1 = 106,3 ± 20,6 N.m). La razón flexores/extensores (61,6 ± 6,7 %) fue notablemente superior a la de jugadores latinoamericanos de la misma CAT. El salto vertical demostró un pobre nivel (35,8 ± 4,5 cm). La potencia promedio fue 26,3 ± 4,6 vatios.kg-1. En conclusión, los atletas estudiados aunque forman parte de una preselección nacional entendemos comprende un grupo de sujetos en pleno desarrollo deportivo que aún no ha alcanzado su óptima forma deportiva. RESUME Le but de cette investigation est de décrire et de comparer une serie de traites caractéristiques antropométriques, métaboliques, cardiorespiratoires, et neuromusculaires des joueurs portoricains de futbol qui ont 20 ans ou moins [catégorie 1, CAT1 (18-19 ans) n = 4, CAT2 (16-17 ans) n = 13 et CAT3 (14-15 ans) n = 4] et d'établir des comparaisons entre des joueurs de futbol du reste du monde rapportés dans la littérature. L'étude des différences entre les moyennes des CAT , dirigeant l'âge, a été fait avec le procéde statistique d'ANCOVA. On n'a pas prouvé de differences quantitatives entre CAT. Le groupe total (16,36 ± 1,2 ans) a montré un degré de masse corporelle et une hauter (61,3 ± 1,2 Kg et 169,1 ± 7,1 cm) semblable à celle des joueurs latino-américains avec les memes CAT, un so matotype (2,6-4,7-3,0) mesomorphique équilibré, un pourcentage de graisse (10,5 ± 3,5%) legerement plus haut que la moyenne montrée par les joueurs de calibre internationaux, un bas niveau de masse corporelle active (54,7 ± 6,5 Kg), un niveau d'élasticite (31,1 ± 6,8 cm) sous la moyenne des joueurs de l'Amérique de Nord avec la meme CAT et un VO2 max (59,1 ± 4,5 ml/kg.min) dans l'étendue montrée dans la littérature par les joueurs professionels intemationaux. Le niveau de la fonction neuromusculaire (Cybex 340) a montré des tendance normales de force dans la musculature du genou (torque maximum extension 60°.seg-1 = 170,1 ± 33,5 N.m., torque maximum flexion 240°. seg-1 = 106,3 ± 20,6 N.m). La raison flexion/extension (61,6 ± 6,7 %) a été notamment supérieure à celle des joueurs latino-américains avec la meme CAT. Le saut vertical a montré un niveau pauvre (35,8 ± 4,5 cm). La force moyenne a été 26,3 ± 4,6 w.kg-l. En conclusion, les athlétes étudiés, qui font partie d'une séléction préliminaire nationale de futbo l, sont un groupe de sujets qui n'ont pas encore accompli leur développment athlétique optimum. SUMMARY The purpose of this study was to describe and compare selected anthropometric, body composition, cardiorespiratory and neuromuscular characteristics of 20 years and under puertorrican soccer players [Category 1, CAT1 (18-19 yrs) n = 4, CAT2 (16-17 yrs) n= 13 y CAT3 (14-15 yrs) n = 4] and to compare our findings with those of international soccer players reported in the literature. The means of the CAT in each of the anthropometric, body composition, cardiorespiratory and neuromuscular variables were separat ely studied using an Analysis of Covariance design with age as a covariate in each analysis. There were no significant differences between CAT. The group (16,3 ± 1,2 yrs) demonstrated a height (169,1 ± 7,1 cm) and body mass (61,3 ± 1,2 kg) similiar to their latin-american peers, a balanced mesomorph somatotype (2,6-4,7-3,0), a % body fat (10,5 ± 3,5 %) slightly higher than top international adult players, a scant measure of lean body mass (54.7 ± 6,5 kg), a modest level of flexibility (31,1 ± 6,8 cm), and VO2 max (59,1 ± 4,5 ml/kg.min) within the range of
This study examined the applicability of criteria for maximal oxygen consumption (V02max) in adol... more This study examined the applicability of criteria for maximal oxygen consumption (V02max) in adolescents. Active females (n=88) and males (n= 196) who were students at a sports-technical junior high schoo! performed a treadmill Bruce protocol to volitional fatigue. The criteria for V02max were R 21.0, HR 295% of predicted maximal for age, and an increase in VO, 12.1 ml,kg-'.min-' with an increase in workload. The first criterion was met by 97% of the females and 93% of the males, while 8 1 % of the females and 75% of the males met the second criterion. Only 8% of the females and 13% of the males met the third criterion. Those who achieved a plateau showed higher HR at peak exercise compared to those who did not (204 f7.0 vs. 200.6 +7.2, P10.05). Our data indicate that a high proportion of adolescents exhibit subjective and objective indicators of maximal performance without showing a plateau in VO,. Age-specific criteria for VOlmax should be developed. Maximal oxygen consumption (vo2max) is an indicator of the limits of the cardiovascular and respiratory systems and a determinant of the capacity to perform aerobic tasks (12, 18). Measurements of V02max have been commonly employed to assess aerobic fitness, the capacity for prolonged exercise, and the response to physical training of adults, adolescents, and children (19). When measuring ~ 0 , m a x during a maximal exercise test, it is important to assure that the subject has attained his or her maximal exercise capacity. Subjective criteria used to determine a maximal effort include the inability to keep pace with the ergometer, facial flushing, excessive sweating, dyspnea, an unsteady gait, and high ratings of perceived exertion (13,20). Objective criteria have been developed for adults, children, and adolescents to assure maximal performance (2, 10, 22). These criteria include (a) a respiratory exchange ratio (R) greater than 1.0 (V C O ~ VO,), (b) a heart rate at peak exercise (HRpeak) equal to or greater than 95% of the predicted maximal for age (220-age), and (c) an increase in VO, less than or equal to 2.1 ml.kg-'.min-' with an increase in workload (plateau). The applicability of these criteria to adolescents has not been established. The plateau criterion is based on the premise that ~ 0 , m a x is reached when, during a physical task involving a significant portion of the muscle mass, oxygen
No association between the angiotensin-converting enzyme ID polymor-phism and elite endurance ath... more No association between the angiotensin-converting enzyme ID polymor-phism and elite endurance athlete status. J Appl Physiol 88: 1571–1575, 2000.—Several studies have reported that the insertion (I) allele of the angiotensin-converting enzyme (ACE) I/deletion (D) polymorphism is associated with enhanced responsiveness to endurance training and is more common in endurance athletes than in sedentary controls. We tested the latter hypothesis in a cohort of 192 male endurance athletes with maximal oxygen uptake 75 ml · kg 1 · min 1 and 189 sedentary male controls. The ACE ID polymorphism in intron 16 was typed with the three-primer polymerase chain reaction method. Both the genotype (P 0.214) and allele (P 0.095) frequencies were similar in the athletes and the controls. Further analyses in the athletes revealed no excess of the I allele among the athletes within the highest quartile (80 ml · kg 1 · min 1) or decile (83 ml · kg 1 · min 1) of maximal oxygen uptake. These data from the GEN-ATHLETE cohort do not support the hypothesis that the ACE ID polymorphism is associated with a higher cardiorespira-tory endurance performance level.
This review presents the 2003 update of the human gene map for physical performance and health-re... more This review presents the 2003 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 2003 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 first edition of the map. In contrast, the 2003 human gene map for physical performance and health-related phenotypes includes 109 autosomal gene entries and QTL, plus two on the X chromosome. Moreover, there are 15 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Key Words: CANDIDATE GENES, QUANTITATIVE TRAIT LOCI, LINKAGE, GENETIC VARIANTS, MITOCHONDRIAL GENOME, NUCLEAR GE-NOME T his paper constitutes the fourth 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 2003. 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, using a combination of key words (e.
Medicine and Science in Sports and Exerciseersie, 2004
We began this series in 2000 with the aim of making available in an easily accessible format all ... more We began this series in 2000 with the aim of making available in an easily accessible format all the advances on the genetic basis of a large family of exercise-related traits. The current review presents the 2004 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 2004. 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. One new feature is that we have incorporated the genes whose sequence variants have been associated with either the level of physical activity or indicators of sedentarism. By the end of 2000, in the early version of the gene map, 29 loci were depicted. In contrast, the 2004 human gene map for physical performance and health-related phenotypes includes 140 autosomal gene entries and quantitative trait loci, plus four on the X chromosome. Moreover, there are 16 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is growing in complexity and progress is being made. The number of laboratories and scientists concerned by the role of genes and sequence variations in exercise-related traits is rising. But exercise science and sports medicine is generally lagging behind in terms of utilizing the advances in genetic and genomic technologies. Key Words: CANDIDATE GENES, QUANTITATIVE TRAIT LOCI, LINKAGE, GENETIC VARIANTS, MITOCHONDRIAL GENOME, NUCLEAR GENOME, GENETICS T his paper constitutes the fifth 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 2004. 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.
This review presents the 2002 update of the human gene map for physical performance and health-re... more 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. Key Words: CANDIDATE GENES, QUANTITATIVE TRAIT LOCI, LINKAGE, GENETIC VARIANTS, MITOCHONDRIAL GENOME, NUCLEAR GENOME
RANKINEN, T., L. PÉ RUSSE, R. RAURAMAA, M. A. RIVERA, B. WOLFARTH, and C. BOUCHARD. The human gen... more RANKINEN, T., L. PÉ RUSSE, R. RAURAMAA, M. A. RIVERA, B. WOLFARTH, and C. BOUCHARD. The human gene map for performance and health-related fitness phenotypes: the 2001 update. This review presents the 2001 update of the human gene map for physical performance and health-related phenotypes. It is based on scientific papers published by the end of 2001. 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. 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, there were 29 loci depicted on the map. The 2001 map includes 71 loci on the autosomes and two on the X chromosome. Among these genes or markers, 24 are from prior publications on exercise intolerance and four relate to other pathologies. Finally, 13 sequence variants in mitochondrial DNA have been shown to influence relevant fitness and performance phenotypes.
The human gene map for performance and health-related fitness phenotypes.. The aim of this paper ... more The human gene map for performance and health-related fitness phenotypes.. The aim of this paper is to describe the first human gene map for physical performance and health-related fitness traits based on the papers published until the end of 2000. Studies of candidate genes using case-control and other designs are reviewed. Quantitative trait loci from the limited evidence reported to date in genomic scans are also incorporated. Performance and fitness phenotypes in the sedentary state as well as their changes during exercise, if applicable, or in response to exercise training are considered. Physical performance traits include cardiorespiratory endurance indicators and muscular strength or muscular performance variables. Health-related fitness phenotypes are grouped under the following categories: hemodynamic traits; anthropometry and body composition; insulin and glucose metabolism; and lipids, lipoproteins, and hemostatic factors. A yearly update of this human gene map will be published.
OBJECTIVE: To examine the hypothesis of an association between a mtDNA D-loop Kpn I restriction s... more OBJECTIVE: To examine the hypothesis of an association between a mtDNA D-loop Kpn I restriction site polymorph-ism (RSP) at base pair (bp) 16,133 (morph-1) and obesity in women. DESIGN: Comparisons of carriers and noncarriers of the mutation for BMI (Body Mass Index) levels and of the frequency of the mutation in obese and normal weight women. SUBJECTS: 567 unrelated adult Caucasian non-diabetic women from the HERITAGE Family Study (n 63; BMI: 15 ± 47 kgam 2), Que  bec Family Study (QFS; 77 controls, BMI: 19 ± 26 kgam 2 and 38 obese, BMI: 27 ± 56 kgam 2) and Swedish Obese Subjects (SOS) Study (81 controls, BMI: 18 ± 26 kgam 2 and 308 obese, BMI: 33 ± 58 kgam 2). MEASUREMENTS: BMI was calculated from weight and height (kgam 2). mtDNA was ampli®ed between base pair 15,928 and 16,500 by polymerase chain reaction (PCR) and digested with the restriction endonuclease Kpn I. RESULTS: No signi®cant differences in the age-adjusted BMI for the mtDNA D-loop Kpn I RSP at base pair (bp) 16,133 (morph-1) between carriers and non-carriers in the HERITAGE cohort. No signi®cant association was found between BMI and the Kpn I RSP carrier status in the SOS and QFS cohorts. The observed frequencies for the Kpn I RSP were not signi®cantly (P b 0.05) different between the SOS controls and SOS obese irrespective of the degree of severity of obesity (BMI b 40, b 45 or b 50 kgam 2). CONCLUSION: We conclude that the mtDNA D-loop Kpn I RSP at bp 16,133 (morph-1) is not a determinant of human obesity.
This study examined the associations between elite endurance athlete (EEA) status and three mitoc... more This study examined the associations between elite endurance athlete (EEA) status and three mitochondrial DNA (mtDNA) restriction fragment length polymorphisms (RFLPs) in the subunit 5 of the NADH dehydrogenase (MTND5) locus and one in the D-loop region. A group of 125 Caucasian male EEA well endowed with the phenotypic expression of ˙VO 2max (78.9 ± 3.8 mL·kg-1 ·min-1 , mean ± SD) and 65 sedentary controls (SCON: ˙VO 2max = 39.8 ± 8.2 mL·kg-1 ·min-1) participated in the study.˙VO 2max was determined during an incremental exercise test on a cycle ergometer or a motor-driven treadmill. mtDNA was extracted from white blood cells or lymphoblastoid cell lines and specific regions were amplified by the polymerase chain reaction. The Pearson Chi-square statistic test and Fisher exact test revealed no significant association (P > 0.05) between any of the three mtDNA RFLPs and EEA status. The MTND5-BamHI RFLP at bp 13,470 (morph 3) was found in 12.8% of the EEA and 12.3% of the SCON (χ 2 = 0.009, P = 0.92). The prevalence of the MTND5-NciI RFLP at bp 13,364 (morph 2) was 12.9% and 14% for the EEA and SCON, respectively (χ 2 = 0.043, P = 0.83). The D-loop-KpnI RFLP at bp 16,133 (morph 1) was found in 5.8% of the EEA and in 1.6% of the SCON (Fisher exact test = 1.80, P = 0.18). The MTND5-HincII RFLP at bp 12,406 (morph 1) was not present in this study sample. These results indicate no evidence for a difference in the frequency of two polymorphic restriction sites in the subunit 5 of the NADH dehydrogenase gene of mtDNA and one in the D-loop region between elite endurance athletes and sedentary controls.
Accepted after revision: April 30.1995. I I I The purpose of this studywas t o testtheeffect of i... more Accepted after revision: April 30.1995. I I I The purpose of this studywas t o testtheeffect of increased fluid intake on temperature regulation and performance in elite soccer players. Eight players of the Puerto Rico National Team were studied under field conditions at a Wet Bulb Globe Temperature (WBGT) heat stress index of 25.3k0.5 "C. They were young (17.0 f 0.6 yr) and well aerobically conditioned. as shown by their maximum aerobic power of 69.2 f 0.7 ml. kg-'. min-'. Players were randomly allocated t o a week of voluntary hydration (VH) (fluid intake = 2.7 k 0.2 1. day1) and a week of hy-perhydration (HH) (fluid intake = 4.6 k0.2 I-day1) (p < 0.05) prior to a soccer match. Their total body water (TBW) increased in HH compared t o VH (p < 0.05). despite a significant increase in urine output (p < 0.01). The soccer match was played a t 82 +7 % (VH) and 83 + 6 % (HH) of maximum heart rate. Sweat losses and core temperature increases during the match were similar in both hydration conditions. When the environmental conditions were taken into consideration, the increase in core temperature during the match rose, as a function of the heat stress index, only in VH (p < 0.05). Plasma volume was slightly reduced in both hydration conditions (ns). Performance assessment at the end of the soccer match revealed that average time to complete 7 repetitions of a soccerspecific testwas significantly increased (p < 0.05) after the match in both hydration conditions but showed no difference between them. Peak torqueand fatiga-bility of knee flexor and extensor musclegroupsat 240 deg. sec-I. measured on a Cybex 340 dynamometer, were similar in both hydration conditions and not affected by the soccer match. The data suggest that additional water intake in these heat-accli-mated players increased body water reserves and improved temperature regulation during a soccer match with no significant effect on the decrement in soccer specific performance observed at the end of a soccer match. % !
This study examined the test-retest reliability of ~ 0 , m a x in adolescent VO, plateau achiever... more This study examined the test-retest reliability of ~ 0 , m a x in adolescent VO, plateau achievers and nonachievers. Nineteen male long-distance runners completed a modified Taylor running protocol to volitional fatigue twice within a one-week period. Results showed that 10 subjects did not achieve a plateau in either test (No P), and 9 achieved a plateau in at least one of the tests (P). The ~ 0 , m a x differed (p < .05) between tests (Test 1 and Test 2) for the entire sample (Test 1 = 70.4 + 6.0, Test 2 = 71.7 f 6.3) but not within the groups (No P, Test 1 = 72.1 f 4.4, Test 2 = 73.2 + 4.2; P, Test 1 = 68.5 + 7.3, Test 2 = 70.1 + 7.9). ~ 0 , m a x was similar for plateau achievers and nonachievers in both Test 1 and Test 2 (p > .05). Interclass correlation coefficients for ~ 0 , m a x were high for both the No P (R = 37) and P (R = .97) groups. A high test-retest reliability coefficient for ~ 0 , m a x can be obtained evenq when a plateau in ~ 0 , is not achieved. A test that measures a physiological variable must be valid and reliable. It must measure what it is intended to measure consistently and in a reproducible manner when properly administered (10). The inherent day-today variability of a useful and reliable physiological measurement is smaller than the effects of interventions such as training. Maximal oxygen consumption (V02max) during progressive treadmill exercise is considered a reliable measure of cardiorespira-tory capacity. Reliability coefficients ranging from r =. .81 to r = .97 and R = .90 have been reported for repeated measurements of V02max in children and adolescents during running treadmill exercise (3, 4, 7, 12, .14). However, these studies do not report the frequency of achievement of the V02 plateau criterion in relation to the reliability of V02max. The ~0~ plateau phenomenon is the most frequently utilized criterion to define a "true" \jo2max during exercise tests to volitional fatigue. However, studies with children and adolescents have shown that a high percentage of those who perform maximal treadmill exercise tests to volitional fatigue satisfy the respiratory exchange ratio and heart rate criteria for V02max, but do not exhibit
The purposes of this study were to examine the thermoregula-tory and body fluid balance responses... more The purposes of this study were to examine the thermoregula-tory and body fluid balance responses in chronically heat acclimatized children , i.e., indigenous to a tropical climate, during exercise in four outdoor conditions and the effects of dehydration on their thermoregulatory response. Nine children (age = 13.3 ? 1.9 yr, V0,max = 45.5 ? 9.2 ml. kg-'. rnin-lj cycled a t 60% VOsmax each under four conditions: sun exposure voluntary drinking (SuVD), sun exposure forced drinking (SuFD), shaded voluntary drinking (ShVD), and shaded forced drinking (ShFD). Exercise sessions consisted of four 20-min exercise bouts alternating with 25-min rest periods. Globe temperature and the WBGT index were higher during SuVD and SuFD
This study examined. the effects of three testing protocols on the frequency of achievement of V0... more This study examined. the effects of three testing protocols on the frequency of achievement of V02max criteria in 13 male adolescent long-distance runners. All subjects completed the modified Taylor (T), Bruce (B), and Taylor intermitten! (TI) running protocols on a treadmill to volitional fatigue. The criteria for V02max were (a) respiratory exchange ratio (R) 1.0, (b) heart rate (HR) 2 95% predicted max, and (c) increase in V02 5 2.1 ml.kg-'.min-l with an increase in workload. A plateau was identified in 54%, 39%, and 85% of the subjects during the T, B, and TI protocols, respectively (p < .05). V02 at exhaustion was similar during all protocols (T = 70.8 f 4.1, B = 71.4 If: 3.5, TI = 69.6 If: 5.0 ml.kg-'.mid; p > .05). The data suggest that the characteristics of a protocol can determine the frequency of a plateau achievement but have no effect on the attainment of the R or HR criteria. V02 during running exercise to volitional fatigue is independent of testing protocol. Evaluating the effects of aerobic training programs on the cardiorespiratory capacity of adolescents requires the identification of precise initial and.follow-up maximal oxygen consumption (V02max) values. The measurement of V02max entails a progressive exercise test to volitional fatigue. Established criteria are used to determine if a subject has achieved a true maximal effort (3). A plateau in \jo2 has been identified as the most objective criterion for establishing a valid ~ 0 , m a x value in adults, children, and adolescents (22). Other valid indicators of the limits of the cardiorespiratory system commonly utilized (2, 14, 15, 20) as criteria for V02max in adolescents are a respiratory exchange ratio (R) 2 1.0 and a heart rate (HR) 2 95% of the predicted maximal or a leveling off at peak exercise. Although the R and HR criteria .xe used in conjunction with the plateau criterion, most investigations establish a V02max value based solely on the latter. If a plateau is not observed, the highest VO, value is considered V02 peak and not V02max. A low rate of achievement of the plateau criterion has been reported in adolescent.untrained and active subjects (1, 2, 6, 7, 15, 16, 20). It is possible that a true VOlmax value is not easily identified in children or adolescents because
RESUMEN El propósito de esta investigación fue describir y comparar una serie de características ... more RESUMEN El propósito de esta investigación fue describir y comparar una serie de características antropométricas, de composición corporal, cardiorrespiratorias, metabólicas y neuromusculares de futbolistas puertorriqueños menores de 20 años [Categoría 1, CAT1 (18-19 años) n = 4, CAT2 (16-17 años) n = 13 y CAT3 (14-15 años) n = 4] y efectuar comparaciones con futbolistas de diferentes países del mundo reportados en la literatura. El estudio de las diferencias entre los promedios de las CAT controlando la edad se hizo con el procedimiento estadístico de ANCOVA. No se evidenciaron diferencias cuantitativas entre CAT. El grupo total (16,3 ± 1,2 años) mostró un grado de masa corporal y talla (61,3 ± 1,2 Kg y 169,1 ± 7,1 cm) similar al de jugadores latinoamericanos de iguales CAT, un somatotipo (2,6-4,7-3,0) mesomórfico balanceado, un % de grasa (10,5 ± 3,5%) levemente mayor que el promedio mostrado por jugadores de calibre internacional, un bajo nivel de masa corporal activa (54,7 ± 6,5 Kg), un nivel de flexibilidad (31,1 ± 6,8 cm) bajo el promedio de jugadores norteamericanos de la misma CAT y un V02 max (59,1 ± 4,5 ml/Kg.min) dentro de la amplitud demostrada en la literatura por jugadores profesionales internacionales. El nivel de función neuromuscular (Cybex 340) mostró patrones normales de fortaleza en la musculatura de rodilla (torque sumo extensión 60°.seg-1 = 170,1 ± 33,5 N.m., torque sumo flexión 240°.seg-1 = 106,3 ± 20,6 N.m). La razón flexores/extensores (61,6 ± 6,7 %) fue notablemente superior a la de jugadores latinoamericanos de la misma CAT. El salto vertical demostró un pobre nivel (35,8 ± 4,5 cm). La potencia promedio fue 26,3 ± 4,6 vatios.kg-1. En conclusión, los atletas estudiados aunque forman parte de una preselección nacional entendemos comprende un grupo de sujetos en pleno desarrollo deportivo que aún no ha alcanzado su óptima forma deportiva. RESUME Le but de cette investigation est de décrire et de comparer une serie de traites caractéristiques antropométriques, métaboliques, cardiorespiratoires, et neuromusculaires des joueurs portoricains de futbol qui ont 20 ans ou moins [catégorie 1, CAT1 (18-19 ans) n = 4, CAT2 (16-17 ans) n = 13 et CAT3 (14-15 ans) n = 4] et d'établir des comparaisons entre des joueurs de futbol du reste du monde rapportés dans la littérature. L'étude des différences entre les moyennes des CAT , dirigeant l'âge, a été fait avec le procéde statistique d'ANCOVA. On n'a pas prouvé de differences quantitatives entre CAT. Le groupe total (16,36 ± 1,2 ans) a montré un degré de masse corporelle et une hauter (61,3 ± 1,2 Kg et 169,1 ± 7,1 cm) semblable à celle des joueurs latino-américains avec les memes CAT, un so matotype (2,6-4,7-3,0) mesomorphique équilibré, un pourcentage de graisse (10,5 ± 3,5%) legerement plus haut que la moyenne montrée par les joueurs de calibre internationaux, un bas niveau de masse corporelle active (54,7 ± 6,5 Kg), un niveau d'élasticite (31,1 ± 6,8 cm) sous la moyenne des joueurs de l'Amérique de Nord avec la meme CAT et un VO2 max (59,1 ± 4,5 ml/kg.min) dans l'étendue montrée dans la littérature par les joueurs professionels intemationaux. Le niveau de la fonction neuromusculaire (Cybex 340) a montré des tendance normales de force dans la musculature du genou (torque maximum extension 60°.seg-1 = 170,1 ± 33,5 N.m., torque maximum flexion 240°. seg-1 = 106,3 ± 20,6 N.m). La raison flexion/extension (61,6 ± 6,7 %) a été notamment supérieure à celle des joueurs latino-américains avec la meme CAT. Le saut vertical a montré un niveau pauvre (35,8 ± 4,5 cm). La force moyenne a été 26,3 ± 4,6 w.kg-l. En conclusion, les athlétes étudiés, qui font partie d'une séléction préliminaire nationale de futbo l, sont un groupe de sujets qui n'ont pas encore accompli leur développment athlétique optimum. SUMMARY The purpose of this study was to describe and compare selected anthropometric, body composition, cardiorespiratory and neuromuscular characteristics of 20 years and under puertorrican soccer players [Category 1, CAT1 (18-19 yrs) n = 4, CAT2 (16-17 yrs) n= 13 y CAT3 (14-15 yrs) n = 4] and to compare our findings with those of international soccer players reported in the literature. The means of the CAT in each of the anthropometric, body composition, cardiorespiratory and neuromuscular variables were separat ely studied using an Analysis of Covariance design with age as a covariate in each analysis. There were no significant differences between CAT. The group (16,3 ± 1,2 yrs) demonstrated a height (169,1 ± 7,1 cm) and body mass (61,3 ± 1,2 kg) similiar to their latin-american peers, a balanced mesomorph somatotype (2,6-4,7-3,0), a % body fat (10,5 ± 3,5 %) slightly higher than top international adult players, a scant measure of lean body mass (54.7 ± 6,5 kg), a modest level of flexibility (31,1 ± 6,8 cm), and VO2 max (59,1 ± 4,5 ml/kg.min) within the range of
This study examined the applicability of criteria for maximal oxygen consumption (V02max) in adol... more This study examined the applicability of criteria for maximal oxygen consumption (V02max) in adolescents. Active females (n=88) and males (n= 196) who were students at a sports-technical junior high schoo! performed a treadmill Bruce protocol to volitional fatigue. The criteria for V02max were R 21.0, HR 295% of predicted maximal for age, and an increase in VO, 12.1 ml,kg-'.min-' with an increase in workload. The first criterion was met by 97% of the females and 93% of the males, while 8 1 % of the females and 75% of the males met the second criterion. Only 8% of the females and 13% of the males met the third criterion. Those who achieved a plateau showed higher HR at peak exercise compared to those who did not (204 f7.0 vs. 200.6 +7.2, P10.05). Our data indicate that a high proportion of adolescents exhibit subjective and objective indicators of maximal performance without showing a plateau in VO,. Age-specific criteria for VOlmax should be developed. Maximal oxygen consumption (vo2max) is an indicator of the limits of the cardiovascular and respiratory systems and a determinant of the capacity to perform aerobic tasks (12, 18). Measurements of V02max have been commonly employed to assess aerobic fitness, the capacity for prolonged exercise, and the response to physical training of adults, adolescents, and children (19). When measuring ~ 0 , m a x during a maximal exercise test, it is important to assure that the subject has attained his or her maximal exercise capacity. Subjective criteria used to determine a maximal effort include the inability to keep pace with the ergometer, facial flushing, excessive sweating, dyspnea, an unsteady gait, and high ratings of perceived exertion (13,20). Objective criteria have been developed for adults, children, and adolescents to assure maximal performance (2, 10, 22). These criteria include (a) a respiratory exchange ratio (R) greater than 1.0 (V C O ~ VO,), (b) a heart rate at peak exercise (HRpeak) equal to or greater than 95% of the predicted maximal for age (220-age), and (c) an increase in VO, less than or equal to 2.1 ml.kg-'.min-' with an increase in workload (plateau). The applicability of these criteria to adolescents has not been established. The plateau criterion is based on the premise that ~ 0 , m a x is reached when, during a physical task involving a significant portion of the muscle mass, oxygen
No association between the angiotensin-converting enzyme ID polymor-phism and elite endurance ath... more No association between the angiotensin-converting enzyme ID polymor-phism and elite endurance athlete status. J Appl Physiol 88: 1571–1575, 2000.—Several studies have reported that the insertion (I) allele of the angiotensin-converting enzyme (ACE) I/deletion (D) polymorphism is associated with enhanced responsiveness to endurance training and is more common in endurance athletes than in sedentary controls. We tested the latter hypothesis in a cohort of 192 male endurance athletes with maximal oxygen uptake 75 ml · kg 1 · min 1 and 189 sedentary male controls. The ACE ID polymorphism in intron 16 was typed with the three-primer polymerase chain reaction method. Both the genotype (P 0.214) and allele (P 0.095) frequencies were similar in the athletes and the controls. Further analyses in the athletes revealed no excess of the I allele among the athletes within the highest quartile (80 ml · kg 1 · min 1) or decile (83 ml · kg 1 · min 1) of maximal oxygen uptake. These data from the GEN-ATHLETE cohort do not support the hypothesis that the ACE ID polymorphism is associated with a higher cardiorespira-tory endurance performance level.
Uploads
Papers by Miguel A Rivera