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ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.

https://arctichealth.org/en/permalink/ahliterature140771
Source
J Sports Sci. 2010 Oct;28(12):1355-9
Publication Type
Article
Date
Oct-2010
Author
Frank E Döring
Simone Onur
Ulf Geisen
Marcel R Boulay
Louis Pérusse
Tuomo Rankinen
Rainer Rauramaa
Bernd Wolfahrt
C. Bouchard
Author Affiliation
Institute of Human Nutrition and Food Science, Christian-Albrechts-University Kiel, Kiel, Germany. vgoyrgoy@phyed.duth.gr
Source
J Sports Sci. 2010 Oct;28(12):1355-9
Date
Oct-2010
Language
English
Publication Type
Article
Keywords
Actinin - genetics
Athletes
Athletic Performance
European Continental Ancestry Group - genetics
Finland
Gene Frequency
Genotype
Germany
Homozygote
Humans
Male
North America
Odds Ratio
Physical Endurance - genetics
Polymorphism, Single Nucleotide
Abstract
Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to a-actinin-3 deficiency. This genotype is observed in approximately 18% of Caucasians. The ACTN3 R577X polymorphism has been previously associated with indicators of physical performance in several, but not all, studies. We examined the prevalence of R577X (rs1815739) and two additional haplotype tagging single nucleotide polymorphisms (htSNPs) of the ACTN3 gene (rs1791690 and rs2275998) in the Genathlete study comprising 316 male elite endurance athletes (VO2max 79.0+3.5 ml · kg(-1) · min(-1); mean +/- s) from North America, Finland, and Germany and 304 sedentary controls (VO2max 40.1+7.0 ml · kg(-1) · min(-1) matched by country of origin. The distribution of genotype and allele frequencies between the two groups was tested by Pearson chi-square and/or Fischer exact test. The prevalence of the 577X homozygote genotype was similar in endurance athletes and controls (20% and 17.5%, respectively). The resulting odds ratio for endurance performance in 577X homozygotes compared with 577R-allele carriers was 1.24 (95%CI 0.82-1.87, P = 0.3). The genotype distribution of the two htSNPs and haplotype frequencies did not differ significantly between athletes and controls. In conclusion, our findings indicate that ACTN3 R577X and other SNPs in ACTN3 are not genetic determinants of endurance performance in Caucasian males.
PubMed ID
20845221 View in PubMed
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Body fat and mobility are explained by common genetic and environmental influences in older women.

https://arctichealth.org/en/permalink/ahliterature157662
Source
Obesity (Silver Spring). 2008 Jul;16(7):1616-21
Publication Type
Article
Date
Jul-2008
Author
Alfredo Ortega-Alonso
Sarianna Sipilä
Urho M Kujala
Jaakko Kaprio
Taina Rantanen
Author Affiliation
Department of Health Sciences, University of Jyväskylä, Jyväskylä, Finland. alfredo.ortega@sport.jyu.fi
Source
Obesity (Silver Spring). 2008 Jul;16(7):1616-21
Date
Jul-2008
Language
English
Publication Type
Article
Keywords
Activities of Daily Living
Adiposity - genetics
Age Factors
Aged
Aging - genetics
Electric Impedance
Environment
Female
Finland
Genetic Predisposition to Disease
Humans
Locomotion - genetics
Middle Aged
Mobility Limitation
Models, Genetic
Obesity - genetics - physiopathology
Physical Endurance - genetics
Risk factors
Twins, Dizygotic - genetics
Twins, Monozygotic - genetics
Walking
Abstract
In older adults, mobility limitations often coexist with overweight or obesity, suggesting that similar factors may underlie both traits. This study examined the extent to which genetic and environmental influences explain the association between adiposity and mobility in older women. Body fat percentage (bioimpedance test), walking speed over 10 m, and distance walked in a 6-min test were evaluated in 92 monozygotic (MZ) and 104 dizygotic (DZ) pairs of twin sisters reared together, aged 63-76 years. Genetic and environmental influences on each trait were estimated using age-adjusted multivariate genetic modeling. The analyses showed that the means (and s.d.) for body fat percentage, walking speed, and walking endurance were 33.2+/-7.3%, 1.7+/-0.3 m/s and 529.7+/-75.4 m, respectively. The phenotypic correlation between adiposity and walking speed was -0.32 and between adiposity and endurance it was -0.33. Genetic influences explained 80% of the association between adiposity and speed, and 65% of adiposity and walking endurance. Cross-trait genetic influences accounted for 12% of the variability in adiposity, 56% in walking speed, and 34% in endurance. Trait-specific genetic influences were also detected for adiposity (54%) and walking endurance (13%), but not speed. In conclusion, among community-living older women, an inverse association was found between adiposity and mobility that was mostly due to the effect of shared genes. This result suggests that the identification of genetic variants for body fat metabolism may also provide understanding of the development of mobility limitations in older women.
PubMed ID
18421266 View in PubMed
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Familial risk ratios for high and low physical fitness levels in the Canadian population.

https://arctichealth.org/en/permalink/ahliterature199109
Source
Med Sci Sports Exerc. 2000 Mar;32(3):614-9
Publication Type
Article
Date
Mar-2000
Author
P T Katzmarzyk
L. Pérusse
D C Rao
C. Bouchard
Author Affiliation
Department of Kinesiology and Health Science, York University, North York, Ontario, Canada. katzmarz@yorku.ca
Source
Med Sci Sports Exerc. 2000 Mar;32(3):614-9
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Canada
Child
Family Health
Female
Health status
Health Surveys
Humans
Incidence
Life Style
Male
Middle Aged
Physical Endurance - genetics
Physical Fitness - physiology
Pliability
Risk factors
Abstract
To estimate the familial risk of being physically fit or unfit in Canada.
The sample consisted of 11,680 participants from 4144 nuclear families of the 1981 Canada Fitness Survey. Indicators of physical fitness included estimated physical working capacity at a heart rate of 150 beats x min(-1) derived from a step test (PWC150), hand grip strength, sit-ups, and trunk flexibility. Probands were defined as reference individuals who were physically fit (95th, 85th, and 75th percentiles) or physically unfit (25th, 15th, and 5th percentiles) for each fitness indicator, respectively.
Standardized risk ratios, adjusted for age and sex (SRR), for spouses and first-degree relatives of probands exceeding the 95th percentile are 1.63 and 1.81 for PWC150, 2.38 and 3.16 for grip strength, 2.63 and 3.98 for sit-ups, and 2.59 and 3.56 for trunk flexibility, respectively, whereas the SRR for spouses and first-degree relatives of probands below the 5th percentile are 1.54 and 1.34 for PWC150, 1.83 and 1.85 for grip strength, 1.13 and 1.53 for sit-ups, and 1.42 and 1.84 for trunk flexibility, respectively. The familial risks tend to be greatest at the extremes (95th and 5th percentiles) and the risks for first-degree relatives of physically fit probands are generally greater than those for spouses for grip strength, sit-ups and trunk flexibility, whereas those for PWC150 show no clear pattern.
There is significant familial risk for being physically fit or unfit in the Canadian population. The pattern of SRR suggests that the familial risk for indicators of strength and flexibility may be due, in part, to genetic factors, whereas the shared family environment is largely contributing to the familial risk for PWC150.
PubMed ID
10731003 View in PubMed
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Human muscle gene expression responses to endurance training provide a novel perspective on Duchenne muscular dystrophy.

https://arctichealth.org/en/permalink/ahliterature47056
Source
FASEB J. 2005 May;19(7):750-60
Publication Type
Article
Date
May-2005
Author
James A Timmons
Ola Larsson
Eva Jansson
Helene Fischer
Thomas Gustafsson
Paul L Greenhaff
John Ridden
Jonathan Rachman
Myriam Peyrard-Janvid
Claes Wahlestedt
Carl Johan Sundberg
Author Affiliation
Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden. Jamie.Timmons@fyfa.ki.se
Source
FASEB J. 2005 May;19(7):750-60
Date
May-2005
Language
English
Publication Type
Article
Keywords
Biopsy
Calcium-Binding Proteins - genetics
Diabetes Mellitus - genetics
Exercise
Extracellular Matrix Proteins - genetics
Gene Expression Profiling
Gene Expression Regulation
Heart rate
Humans
Male
Muscle, Skeletal - chemistry - metabolism - physiopathology
Muscular Dystrophy, Duchenne - genetics - physiopathology
Oligonucleotide Array Sequence Analysis
Oxidative Phosphorylation
Oxygen consumption
Physical Endurance - genetics
RNA, Messenger - analysis
Research Support, Non-U.S. Gov't
Reverse Transcriptase Polymerase Chain Reaction
Sweden
Abstract
Global gene expression profiling is used to generate novel insight into a variety of disease states. Such studies yield a bewildering number of data points, making it a challenge to validate which genes specifically contribute to a disease phenotype. Aerobic exercise training represents a plausible model for identification of molecular mechanisms that cause metabolic-related changes in human skeletal muscle. We carried out the first transcriptome-wide characterization of human skeletal muscle responses to 6 wk of supervised aerobic exercise training in 8 sedentary volunteers. Biopsy samples before and after training allowed us to identify approximately 470 differentially regulated genes using the Affymetrix U95 platform (80 individual hybridization steps). Gene ontology analysis indicated that extracellular matrix and calcium binding gene families were most up-regulated after training. An electronic reanalysis of a Duchenne muscular dystrophy (DMD) transcript expression dataset allowed us to identify approximately 90 genes modulated in a nearly identical fashion to that observed in the endurance exercise dataset. Trophoblast noncoding RNA, an interfering RNA species, was the singular exception-being up-regulated by exercise and down-regulated in DMD. The common overlap between gene expression datasets may be explained by enhanced alpha7beta1 integrin signaling, and specific genes in this signaling pathway were up-regulated in both datasets. In contrast to these common features, OXPHOS gene expression is subdued in DMD yet elevated by exercise, indicating that more than one major mechanism must exist in human skeletal muscle to sense activity and therefore regulate gene expression. Exercise training modulated diabetes-related genes, suggesting our dataset may contain additional and novel gene expression changes relevant for the anti-diabetic properties of exercise. In conclusion, gene expression profiling after endurance exercise training identified a range of processes responsible for the physiological remodeling of human skeletal muscle tissue, many of which were similarly regulated in DMD. Furthermore, our analysis demonstrates that numerous genes previously suggested as being important for the DMD disease phenotype may principally reflect compensatory integrin signaling.
PubMed ID
15857889 View in PubMed
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The PPARGC1A gene Gly482Ser in Polish and Russian athletes.

https://arctichealth.org/en/permalink/ahliterature129294
Source
J Sports Sci. 2012;30(1):101-13
Publication Type
Article
Date
2012
Author
Agnieszka Maciejewska
Marek Sawczuk
Pawel Cieszczyk
Irina A Mozhayskaya
Ildus I Ahmetov
Author Affiliation
Department of Genetics, University of Szczecin, Szczecin, Poland. maciejewska.us@wp.pl
Source
J Sports Sci. 2012;30(1):101-13
Date
2012
Language
English
Publication Type
Article
Keywords
Adult
Athletes
Athletic Performance
Cohort Studies
European Continental Ancestry Group - genetics
Female
Heat-Shock Proteins - genetics
Humans
Male
Muscle Strength - genetics
Physical Endurance - genetics
Poland
Polymorphism, Genetic
Russia
Transcription Factors - genetics
Young Adult
Abstract
Peroxysome proliferator-activated receptor gamma coactivator-1-alpha (PGC-1a; encoded by the gene PPARGC1A in humans) is a crucial component in training-induced muscle adaptation because it is a co-activator of transcriptional factors that control gene expression in coordinated response to exercise. It has been suggested that a Gly482Ser substitution in PPARGC1A has functional relevance in the context of human disorders and athletic performance. To test this hypothesis, we examined the genotype distribution of PPARGC1A Gly482Ser in a group of Polish athletes and confirmed the results obtained in a replication study of Russian athletes. We found that the 482Ser allele was under-represented in the cohort of Polish and Russian athletes examined compared with unfit controls (P
PubMed ID
22122487 View in PubMed
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The role of genetics and environment in lifting force and isometric trunk extensor endurance.

https://arctichealth.org/en/permalink/ahliterature179428
Source
Phys Ther. 2004 Jul;84(7):608-21
Publication Type
Article
Date
Jul-2004
Author
Annina Ropponen
Esko Levälahti
Tapio Videman
Jaakko Kaprio
Michele C Battié
Author Affiliation
Department of Physiology, University of Kuopio, PO Box 1627, 70211 Kuopio, Finland. annina.ropponen@uku.fi
Source
Phys Ther. 2004 Jul;84(7):608-21
Date
Jul-2004
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aging
Back - physiology
Environment
Exercise
Finland
Health status
Humans
Isometric Contraction - genetics
Leisure Activities
Lifting
Male
Middle Aged
Muscle, Skeletal - physiology
Physical Endurance - genetics
Twins, Dizygotic
Twins, Monozygotic
Abstract
Our understanding of what different back performance tests are measuring is limited. The purpose of this study was to investigate the relative contributions of genetics and unique and common environmental factors for 3 tests of back muscle performance in a classic twin analysis.
The subjects were a population-based sample of 122 monozygotic and 131 dizygotic male twin pairs aged 35 to 69 years (mean=49.9, SD=7.7).
Variance component analysis was applied to estimate genetic and environmental influences on isokinetic and psychophysical lifting and isometric trunk extensor endurance test performance. The Cholesky decomposition genetic factor model was used to estimate genetic and environmental correlations of these variables. Path analysis was applied to study determinants of isokinetic and psychophysical lifting and isometric trunk extensor endurance test performance.
Genetic effects accounted for 60%, 33%, and 5% of the total variance of isokinetic and psychophysical lifting forces and isometric trunk extensor endurance, respectively, and unique environmental factors accounted for 35%, 49%, and 61% of the variance.
Genetics had a dominant role in isokinetic lifting and unique environmental factors in isometric trunk extensor endurance. The relatively high role of genetics in lifting force suggests the potential to increase and sustain changes in back muscle force in the general population may be particularly challenging.
Notes
Comment In: Phys Ther. 2004 Jul;84(7):606-715225079
PubMed ID
15225080 View in PubMed
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6 records – page 1 of 1.