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Gustavo Monnerat, Alex S. Maior, Marcio Tannure, Lia K.F.C. Back, and Caleb G.M. Santos

way to traditional association studies with single nucleotide polymorphisms (SNPs), the use of population distance genetics including SNP data from human genomics databases can provide important information for a better understanding of heritability in exercise science. Methods Subjects The study

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Thiago Correa Porto Gonçalves, Atila Alexandre Trapé, Jhennyfer Aline Lima Rodrigues, Simone Sakagute Tavares, and Carlos Roberto Bueno Junior

 al., 2001 ; Snyder et al., 2006 ). Two single-nucleotide polymorphisms of the β 2 -AR gene have been investigated and are related to the extracellular part of the receptor: 16A<G, with a change of arginine (Arg) to glycine (Gly) at amino acid 16, and 27C<G, with a change of glutamic acid (Gln) to glutamine

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João Paulo Limongi França Guilherme, Ekaterina A. Semenova, Hirofumi Zempo, Gabriel L. Martins, Antonio H. Lancha Junior, Eri Miyamoto-Mikami, Hiroshi Kumagai, Takuro Tobina, Keisuke Shiose, Ryo Kakigi, Takamasa Tsuzuki, Noriko Ichinoseki-Sekine, Hiroyuki Kobayashi, Hisashi Naito, Oleg V. Borisov, Elena S. Kostryukova, Nikolay A. Kulemin, Andrey K. Larin, Edward V. Generozov, Noriyuki Fuku, and Ildus I. Ahmetov

depends on genetic characteristics. Like other sports phenotypes, sprint ability is a complex and polygenic phenomenon guided by the interaction of multiple genes and, most likely, gene variants. There are several polymorphisms that have been associated with elite power and sprint athletic status. 7 In

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Thaís Amanda Reia, Roberta Fernanda da Silva, André Mourão Jacomini, Ana Maria Guilmo Moreno, Letícia Perticarra Ferezin, Sherliane Carla Pereira, Riccardo Lacchini, Thiago José Dionísio, Carlos Ferreira Santos, and Anderson Saranz Zago

Hypertension (HT) has stood out as the most prevalent disease in the older adult population. In addition, genetic variation has been associated with a high influence on the development of HT; thus, some polymorphisms of endothelial nitric oxide synthase gene (eNOS) are studied as an important

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Thomas Yvert, Catalina Santiago, Elena Santana-Sosa, Zoraida Verde, Felix Gómez-Gallego, Luis Lopez-Mojares, Margarita Pérez, Nuria Garatachea, and Alejandro Lucia

In patients with cystic fibrosis (CF), physical capacity (PC) has been correlated with mortality risk. In turn, PC is dependent on genetic factors. This study examines several polymorphisms associated with PC and healthrelated phenotype traits (VO2peak, FEV1, FVC, PImax and muscular strength) in a group of children with CF (n = 66, primary purpose). The same analyses were also performed in a control group of healthy children (n = 113, secondary purpose). The polymorphisms determined were classified as muscle function polymorphisms (ACE rs1799752; AGT rs699; ACTN3 rs1815739; PTK2 rs7843014 and rs7460; MSTN rs1805086; TRHR rs7832552; NOS3 rs2070744) or energy metabolism polymorphisms (PPARGC1A rs8192678; NRF1 rs6949152; NRF2 rs12594956; TFAM rs1937; PPARD rs2267668; ACSL1 rs6552828). No significant polymorphism/phenotype correlations were detected in children with CF, with marginal associations being observed between NOS3 rs2070744 and VO2peak and FEV1, as well as between PPARGC1A rs8192678 and FEV1. Overall, similar findings were observed in the control group, i.e., no major associations. The PC-related polymorphisms examined seem to have no effects on the PC or health of children with CF.

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Sigal Ben-Zaken, Yoav Meckel, Nitzan Dror, Dan Nemet, and Alon Eliakim

In recent years several genetic polymorphisms related to the GH-IGF-I axis were suggested to promote athletic excellence in endurance and power sports. We studied the presence of the C-1245T SNP (rs35767), a nucleotide substitution in the promoter region of the IGF-I gene, and the presence of the 275124A > C SNP (rs1464430), a common nucleotide substitution in the intron region of the IGF-I receptor (IGF-IR) gene in elite long and short-distance swimmers compared with nonphysically active controls. The rare T/T IGF-I polymorphism was found only in 5.3% of the long-distance swimmers, and was not found at all in the short-distance swimmers or among the control group participants. The prevalence of the IGF-I receptor AA genotype was significantly lower in the swimming group as a whole (35%) compared with the control group (46%), in particularly due to reduced frequency of the AA genotype among short-distance swimmers (26%). In contrast to previous reports in elite endurance and power track and field athletes, single nucleotide polymorphisms of the IGF-I and the IGF-IR were not frequent among elite Israeli short- and long-distance swimmers emphasizing the importance of other factors for excellence in swimming. The results also suggest that despite seemingly similar metabolic characteristics different sports disciplines may have different genetic polymorphisms. Thus, combining different disciplines for sports genetic research purposes should be done with extreme caution.

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Ildus I. Ahmetov, Olga L. Vinogradova, and Alun G. Williams

The ability to perform aerobic or anaerobic exercise varies widely among individuals, partially depending on their muscle-fiber composition. Variability in the proportion of skeletal-muscle fiber types may also explain marked differences in aspects of certain chronic disease states including obesity, insulin resistance, and hypertension. In untrained individuals, the proportion of slow-twitch (Type I) fibers in the vastus lateralis muscle is typically around 50% (range 5–90%), and it is unusual for them to undergo conversion to fast-twitch fibers. It has been suggested that the genetic component for the observed variability in the proportion of Type I fibers in human muscles is on the order of 40–50%, indicating that muscle fiber-type composition is determined by both genotype and environment. This article briefly reviews current progress in the understanding of genetic determinism of fiber-type proportion in human skeletal muscle. Several polymorphisms of genes involved in the calcineurin–NFAT pathway, mitochondrial biogenesis, glucose and lipid metabolism, cytoskeletal function, hypoxia and angiogenesis, and circulatory homeostasis have been associated with fiber-type composition. As muscle is a major contributor to metabolism and physical strength and can readily adapt, it is not surprising that many of these gene variants have been associated with physical performance and athlete status, as well as metabolic and cardiovascular diseases. Genetic variants associated with fiber-type proportions have important implications for our understanding of muscle function in both health and disease.

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Olga N. Fedotovskaya, Leysan J. Mustafina, Daniil V. Popov, Olga L. Vinogradova, and Ildus I. Ahmetov


In red skeletal muscle, monocarboxylate transporter 1 (MCT1) is required for lactate to enter the myocytes for oxidation. The A1470T polymorphism (rs1049434) in the MCT1 gene was shown to be associated with lactate transport rates in human skeletal muscles. The aim of the study was to compare genotype and allele frequencies of the MCT1 gene polymorphism in 323 Russian athletes and 467 nonathletic controls and to investigate the association of the MCT1 gene A1470T polymorphism with maximal oxygen consumption and maximal lactate concentration in rowers (n = 79).


Genotyping for the A1470T MCT1 polymorphism was performed by PCR-RFLP method. Physiological measurements of 79 Russian rowers of national competitive standard were determined during an incremental test to exhaustion on a rowing ergometer.


Frequencies of the A allele (71.8% vs 62.5%, P < .0001) and AA genotype (59.8% vs 39.4%, P < .0001) were significantly higher in endurance-oriented athletes (n = 142) than in the control group. Mean blood lactate concentration was higher in male rowers with the T allele (AT+TT 10.26 ± 1.89 mmol/L, AA 8.75 ± 1.69 mmol/L, P = .005).


MCT1 gene A1470T polymorphism is associated with endurance athlete status and blood lactate level after intensive exercise.

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Wai Pong Wong, Yi Zhao, and Woon-Puay Koh

The angiotensin-I-converting enzyme (ACE) I/D gene polymorphism has been studied for its role in determining habitual physical activity level, but there is no information from Asian populations. The objective of this study was to determine whether this ACE gene polymorphism was associated with physical activity level among Chinese in Singapore. In this cross-sectional study, 110 normotensive Chinese in Singapore, age 21–61 yr, completed the short-form version of the International Physical Activity Questionnaire and contributed buccal cell samples for genotyping of the ACE I/D gene polymorphism using polymerase chain-reaction amplification. They also provided demographic information and underwent anthropometric measurements. Physical activity level was expressed as continuous (in kcal/wk) and categorical (low, moderate, or high) data. The 3 genotypes of ACE were DD (homozygous for the deletion allele), II (homozygous for the insertion allele), and ID. Among the participants, 28.2% reported low, 49.1% moderate, and 22.7% high physical activity level. Frequencies of the genotypes were 11.8% for DD, 42.7% for ID, and 45.5% for II. ACE genotype was independently associated with physical activity level. After age, gender, and body-mass index were adjusted for, individuals with DD or ID genotypes were more likely to report insufficient or low physical activity level than those with II genotypes (odds ratio = 6.88; 95% confidence interval: 2.26, 20.94). In conclusion, the I/D polymorphism of the ACE gene is significantly associated with self-reported physical activity level in normotensive Chinese Singaporeans.

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Marta Stepien-Slodkowska, Krzysztof Ficek, Pawel Zietek, Mariusz Kaczmarczyk, Wioletta Lubkowska, Miroslawa Szark-Eckardt, and Pawel Cieszczyk


The most commonly injured body part for skiing has been found to be the knee. The rupture of the anterior cruciate ligament (ACL) was the most frequent diagnosis. ACL ruptures are determined by several extrinsic and intrinsic risk factors including those that are hormonal, neuromuscular, anatomical, or genetic.


To examine the association of both COL1A1 rs1800012 (+1245G/T) and COL1A1 rs1107946 (–1997G/T) polymorphisms, individually and as haplotypes, with ACL ruptures in recreational Polish skiers.


Genomic DNA was extracted from buccal cells donated by the subjects, and genotyping was carried out using real-time polymerase chain reaction.


University laboratory.


138 male recreational skiers with surgically diagnosed primary ruptures and 183 apparently healthy male recreational skiers not differing markedly in age or level of exposure to ACL injury.

Main Outcome Measures:

COL1A1 rs1800012 and COL1A1 rs1107946 polymorphisms.


There were significant differences in genotype distribution of the COL1A1 rs1800012 polymorphism between the ACL rupture group and the control group. The GG homozygotes were underrepresented in the ACL rupture group compared with the control group. There were no significant differences in genotype distribution or allele frequency of COL1A1 rs1107946 polymorphisms between the ACL rupture group and the control group. The G-G (COL1A1 rs1800012G and COL1A1 rs1107946G) haplotype was the most common. There were no significant differences in haplotype distribution between the ACL-rupture and control groups.


The study showed that GG homozygotes were underrepresented in the ACL-rupture group compared with the control group, which suggests an association with reduced risk of ACL injury.