Change, stability and prediction of gross motor co-ordination in Portuguese children.

BACKGROUND: The knowledge about intra- and inter-individual variation can stimulate attempts at description, interpretation and prediction of motor co-ordination (MC). AIM: To analyse change, stability and prediction of motor co-ordination (MC) in children. SUBJECTS AND METHODS: A total of 158 children, 83 boys and 75 girls, aged 6, 7 and 8 years, were evaluated in 2006 and re-evaluated in 2012 at 12, 13 and 14 years of age. MC was assessed through the Kiphard-Schilling's body co-ordination test and growth, skeletal maturity, physical fitness, fundamental motor skills (FMS), physical activity and socioeconomic status (SES) were measured and/or estimated. RESULTS: Repeated-measures MANOVA indicated that there was a significant effect of group, sex and time on a linear combination of the MC tests. Univariate tests revealed that group 3 (8-14 years) scored significantly better than group 1 (6-12 years) in all MC tests and boys performed better than girls in hopping for height and moving sideways. Scores in MC were also higher at follow-up than at baseline. Inter-age correlations for MC were between 0.15-0.74. Childhood predictors of MC were growth, physical fitness, FMS, physical activity and SES. Biological maturation did not contribute to prediction of MC. CONCLUSION: MC seemed moderately stable from childhood through adolescence and, additionally, inter-individual predictors at adolescence were growth, FMS, physical fitness, physical activity and SES.

Gross motor coordination and weight status of Portuguese children aged 6-14 years.

OBJECTIVES: To construct age- and gender-specific percentiles for gross motor coordination (MC) tests and to explore differences in gross MC in normal-weight, overweight and obese children. METHODS: Data are from the "Healthy Growth of Madeira Study," a cross-sectional study carried out in children, aged 6-14 years. All 1,276 participants, 619 boys and 657 girls, were assessed for gross MC (Körperkoordinations Test für Kinder, KTK), anthropometry (height and body mass), physical activity (Baecke questionnaire) and socioeconomic status (SES). Centile curves for gross MC were obtained for boys and girls separately using generalized additive models for location, scale and shape. RESULTS: A significant main effect for age was found in walking backwards and moving sideways. Boys performed significantly better than girls on moving sideways. At the upper limit of the distributions, interindividual variability was higher in hopping on one leg (girls) and jumping and moving sideways (boys and girls). One-way ANCOVA, controlling for age, physical activity and SES, indicated that normal-weight children scored significantly better than their obese peers in all gross MC tests. Overweight boys and girls also scored significantly better than their obese colleagues in some MC tests. CONCLUSIONS: These centile curves can be used as reference data in Portuguese children and youth, aged 6-14 years. Being overweight or obese was a major limitation in MC tests and, therefore, of the children's health- and performance-related physical fitness.

History-dependent force, angular velocity and muscular endurance in ACTN3 genotypes.

PURPOSE: This study aimed at determining the influence of the ACTN3 R577X polymorphism on muscle strength and muscle endurance in non-athletic young men. METHODS: 266 healthy young men were included in this study. Each subject performed maximal isometric, concentric and eccentric contractions of the knee extensor muscles on an isokinetic dynamometer. Force depression, force enhancement and the fatigue index were derived from these data. In addition, handgrip strength, squat jump (SJ) and counter movement jump (CMJ) height were obtained. RESULTS: Our group included 83 RR (31 %), 131 RX (49 %) and 52 XX (20 %) individuals. The muscle bone cross-sectional area of the thigh was 5 % higher in RR compared to XX individuals (P = 0.033). RR genotypes showed 6 % higher handgrip strength compared to the XX group (P = 0.047). They also jumped 5 % higher in both the SJ and CMJ tests (P = 0.029; P = 0.031). No differences were found in force depression, force enhancement, isometric or eccentric strength. The relative concentric knee torque at 200°/s and at 300°/s was 7 and 8 % higher in RR compared to XX genotypes, respectively (P = 0.049; P = 0.048). Also, the fatigue index was found to be 4 % lower in XX genotypes (P = 0.037). CONCLUSIONS: Our findings are in agreement with the higher prevalence of the RR genotype in power-oriented activities. The better fatigue index of XX genotypes may be beneficial in endurance-type activities.

Identification and prioritization of NUAK1 and PPP1CC as positional candidate loci for skeletal muscle strength phenotypes.

Muscle strength is an important determinant in elite sports performance as well as in the activities of daily living. Muscle metabolism also plays a role in the genesis, and therefore prevention, of common pathological conditions and chronic diseases. Even though heritability estimates between 31 and 78% suggest a significant genetic component in muscle strength, only a limited number of genes influencing muscle strength have been identified. This study aimed to identify and prioritize positional candidate genes within a skeletal muscle strength quantitative trait locus on chromosome 12q22-23 for follow-up. A two-staged gene-centered fine-mapping approach using 122 single nucleotide polymorphisms (SNPs) in stage 1 identified a family-based association (n=500) between several tagSNPs located in the ATPase, Ca2+ transporting, cardiac muscle, slow twitch 2 (ATP2A2; rs3026468), the NUAK family, SNF1-like kinase, 1 (NUAK1; rs10861553 and rs3741886), and the protein phosphatase 1, catalytic subunit, gamma isoform (PPP1CC; rs1050587 and rs7901769) genes and knee torque production (P values up to 0.00092). In stage 2, family-based association tests on additional putatively functional SNPs (e.g., exonic SNPs, SNPs in transcription factor binding sites or in conserved regions) in an enlarged sample (n=536; 464 individuals overlap with stage 1) did not identify additional associations with muscle strength characteristics. Further in-depth analyses will be necessary to elucidate the exact role of ATP2A2, PPP1CC, and NUAK1 in muscle strength and to find out which functional polymorphisms are at the base of the interindividual strength differences.

Prediction of adult height in girls: the Beunen-Malina-Freitas method.

The purpose of this study was to validate and cross-validate the Beunen-Malina-Freitas method for non-invasive prediction of adult height in girls. A sample of 420 girls aged 10-15 years from the Madeira Growth Study were measured at yearly intervals and then 8 years later. Anthropometric dimensions (lengths, breadths, circumferences, and skinfolds) were measured; skeletal age was assessed using the Tanner-Whitehouse 3 method and menarcheal status (present or absent) was recorded. Adult height was measured and predicted using stepwise, forward, and maximum R (2) regression techniques. Multiple correlations, mean differences, standard errors of prediction, and error boundaries were calculated. A sample of the Leuven Longitudinal Twin Study was used to cross-validate the regressions. Age-specific coefficients of determination (R (2)) between predicted and measured adult height varied between 0.57 and 0.96, while standard errors of prediction varied between 1.1 and 3.9 cm. The cross-validation confirmed the validity of the Beunen-Malina-Freitas method in girls aged 12-15 years, but at lower ages the cross-validation was less consistent. We conclude that the Beunen-Malina-Freitas method is valid for the prediction of adult height in girls aged 12-15 years. It is applicable to European populations or populations of European ancestry.

The stiffness response of type IIa fibres after eccentric exercise-induced muscle damage is dependent on ACTN3 r577X polymorphism.

The aim of the study was to determine the effect of α-actinin-3 (ACTN3) deficiency (XX) on muscle damage induced by an eccentric exercise bout. In this purpose, 4 RR and 4 XX individuals performed an intensive eccentric knee flexion exercise on an isokinetic dynamometer. Muscle biopsies, blood and pain scores were taken before and after the exercise to determine the extent of the exercise-induced damage and the effect of the ACTN3 R577X polymorphism. Maximal isometric strength of the quadriceps and single fibre properties were compared before and after the exercise. The drop in maximal isometric strength of the quadriceps at 45° knee flexion following the eccentric exercise bout was on average 37% 24 h post-exercise. The decrease in force was also apparent in isolated type IIa fibres (8%; P = 0.02), but not in type I fibres (P = 0.88). Creatine kinase and myoglobin plasma levels increased in all participants at least by 55% and 87%, respectively (P < 0.05). In addition, mRNA levels of markers for muscle regeneration and muscle remodelling increased after the eccentric exercise (P < 0.05), however, independently from ACTN3 R577X genotype. The mRNA level of nuclear factor of activated T-cells 1 (NFATc1) decreased after the eccentric exercise only in XX genotypes (P < 0.05). The stiffness of type IIa, but not type I muscle fibres increased only in RR individuals after the eccentric exercise (P < 0.05). While no major effect of α-actinin-3 deficiency on susceptibility to muscle damage was found acutely, the increased stiffness response in fast RR fibres might be a protection mechanism from muscle damage during a subsequent eccentric exercise bout.

Genome-wide linkage scan for contraction velocity characteristics of knee musculature in the Leuven Genes for Muscular Strength Study.

The torque-velocity relationship is known to be affected by ageing, decreasing its protective role in the prevention of falls. Interindividual variability in this torque-velocity relationship is partly determined by genetic factors (h(2): 44-67%). As a first attempt, this genome-wide linkage study aimed to identify chromosomal regions linked to the torque-velocity relationship of the knee flexors and extensors. A selection of 283 informative male siblings (17-36 yr), belonging to 105 families, was used to conduct a genome-wide SNP-based (Illumina Linkage IVb panel) multipoint linkage analysis for the torque-velocity relationship of the knee flexors and extensors. The strongest evidence for linkage was found at 15q23 for the torque-velocity slope of the knee extensors (TVSE). Other interesting linkage regions with LOD scores >2 were found at 7p12.3 [logarithm of the odds ratio (LOD) = 2.03, P = 0.0011] for the torque-velocity ratio of the knee flexors (TVRF), at 2q14.3 (LOD = 2.25, P = 0.0006) for TVSE, and at 4p14 and 18q23 for the torque-velocity ratio of the knee extensors TVRE (LOD = 2.23 and 2.08; P = 0.0007 and 0.001, respectively). We conclude that many small contributing genes are involved in causing variation in the torque-velocity relationship of the knee flexor and extensor muscles. Several earlier reported candidate genes for muscle strength and muscle mass and new candidates are harbored within or in close vicinity of the linkage regions reported in the present study.

[Biological and socio-cultural determinants of physical activity in adolescents]. / Determinantes biológicos e sócio-culturais associados à prática de atividade física de adolescentes.

Physical activity is important for health promotion and disease prevention. Effective physical activity programs for adolescents require a proper understanding of the determinants of activity levels. The main purpose of this paper was to review the scientific literature on determinants of physical activity among adolescents: demographic, biological (age, gender, socioeconomic status), and socio-cultural (family, peers, and physical education teachers). The review included only studies with large samples (>100 subjects) and a cross-sectional design, and that used questionnaires to measure physical activity in adolescents (10-18 years). The main results and conclusions were: age is negatively associated with physical activity; boys tend to be more active than girls; higher socioeconomic status is positively associated with more physical activity; adolescents are more involved in physical activity when parents and peers also participate; physical education teachers do not influence the adolescents' level of physical activity.

Biological/Genetic Regulation of Physical Activity Level: Consensus from GenBioPAC.

PURPOSE: Physical activity unquestionably maintains and improves health; however, physical activity levels globally are low and not rising despite all the resources devoted to this goal. Attention in both the research literature and the public policy domain has focused on social-behavioral factors; however, a growing body of literature suggests that biological determinants play a significant role in regulating physical activity levels. For instance, physical activity level, measured in various manners, has a genetic component in both humans and nonhuman animal models. This consensus article, developed as a result of an American College of Sports Medicine-sponsored round table, provides a brief review of the theoretical concepts and existing literature that supports a significant role of genetic and other biological factors in the regulation of physical activity. CONCLUSIONS: Future research on physical activity regulation should incorporate genetics and other biological determinants of physical activity instead of a sole reliance on social and other environmental determinants.

ACTN3 (R577X) genotype is associated with fiber type distribution.

alpha-Actinin-3 is a Z-disc structural protein found only in type II muscle fibers. The X allele of the R577X polymorphism in the ACTN3 gene results in a premature stop codon and alpha-actinin-3 deficiency in XX homozygotes. Associations between the R577X polymorphism and the muscle-power performance of elite athletes have been described earlier. About 45% of the fiber type proportions are determined by genetic factors. The ACTN3 variant could be one of the contributing genes in the heritability of fiber type distribution through its interaction with calcineurin. The aim of this study was to quantify the association between the polymorphism and muscle fiber type distribution and fast-velocity knee extension strength. Ninety healthy young men (18-29 y) were genotyped for ACTN3 R577X. Knee extensor strength was measured isometrically (45 degrees ) and at different dynamic velocities (100-300 degrees /s) on a programmable dynamometer. Twenty-two XX and twenty-two RR subjects underwent a biopsy of the right vastus lateralis muscle. Fiber type composition was determined by immunohistochemistry. Homozygotes for the R allele show significantly higher relative dynamic quadriceps torques at 300 degrees /s, compared with XX carriers (P < 0.05). Fiber type characteristics differed significantly between the two genotype groups. The percentage surface and number of type IIx fibers were greater in the RR than the XX genotype group (P < 0.05), and alpha-actinin-3 protein content is systematically higher in type IIx compared with type IIa fibers (staining intensity ratio IIx to IIa = 1.17). This study shows that the mechanism, by which the ACTN3 polymorphism has its effect on muscle power, might rely on a control function of fiber type proportions.

Genetic and environmental determination of tracking in subcutaneous fat distribution during adolescence.

BACKGROUND: The distribution of fat and adipose tissue is an important predictor of disease risk. Variation in fat distribution during adolescence is correlated with fat distribution in adulthood. OBJECTIVE: The objective was to gain insight into the relative contribution of genes and environment to the stability of subcutaneous fat distribution from early adolescence into young adulthood. DESIGN: Ratio of trunk to extremity skinfold thickness (TER) data from the Leuven Longitudinal Twin Study (n = 105 Belgian twin pairs followed from 10 to 18 y of age) was entered into a longitudinal path analysis. RESULTS: The best-fitting model included additive genetic sources of variance and nonshared environment. Heritabilities ranged between 84.3% (95% CI: 63.9-92.3%) and 88.6% (95% CI: 76.5-94.1%) in boys and between 78.4% (95% CI: 59.3-88.3%) and 88.3% (95% CI: 77.0-93.8%) in girls. The majority of the phenotypic tracking (boys: 0.40-0.78; girls: 0.38-0.72) could be attributed to the moderate-to-high genetic correlations (rG) (between 0.27-0.84 and 0.38-0.80 for the various age intervals in boys and girls, respectively). This rG could be attributed to both genetic sources of variance, which are the same throughout adolescence, as well as genetic sources of variance that are "switched-on" at a certain age, the effect of which is then transmitted to subsequent observations. Environmental correlations (rE) in boys ranged between 0.51 and 0.70 but contributed relatively little to phenotypic tracking because the amount of variance explained by the environment was low (11.4-15.7%). In girls rE was low to moderate at best (0.09-0.48). CONCLUSION: Phenotypic tracking in subcutaneous fat distribution during adolescence is predominantly explained by additive genetic sources of variance.

Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women.

Genotypic associations between polymorphisms in the ciliary neurotrophic factor (CNTF) and CNTF receptor (CNTFR) genes and muscular strength phenotypes in 154 middle-aged men (45-49 yr) and 138 women (38-44 yr) and 99 older men (60-78 yr) and 102 older women (60-80 yr) were tested to validate earlier association studies. Allelic interaction effects were hypothesized between alleles of CNTF and CNTFR. We performed analysis of covariance with age, height, and fat-free mass (FFM) as covariates. FFM was anthropometrically estimated by the equation of Durnin-Womersley. Isometric, concentric, and eccentric torques for the knee flexors (KF) and extensors (KE) were measured using Biodex dynamometry. In the older male group, T-allele carriers of the C-1703T polymorphism in CNTFR performed significantly better on all noncorrected KF torques, whereas only noncorrected KE isometric torque at 120 degrees and concentric torque at 240 degrees/s were higher than the C/C homozygotes (P < 0.05). When age, height, and FFM were used as covariates, T-allele carriers performed only better on KE and KF isometric torque at 120 degrees (P < 0.05). Concentric KF torque at 180 degrees/s was lower in middle-aged female A-allele carriers compared with the T/T subjects for the T1069A polymorphism in CNTFR. After correction for age, height, and FFM, middle-aged female A-allele carriers exhibited lower values on all concentric KF strength measures and isometric torque at 120 degrees . There was a lack of association with the CNTF G-6A polymorphism in men, with inconclusive results for a limited number of phenotypes in women. No significant CNTF/CNTFR allele interaction effects were found. Results indicate that CNTFR C-1703T and T1069A polymorphisms are significantly associated with muscle strength in humans.

Selection of genes and single nucleotide polymorphisms for fine mapping starting from a broad linkage region.

Fine mapping of linkage peaks is one of the great challenges facing researchers who try to identify genes and genetic variants responsible for the variation in a certain trait or complex disease. Once the trait is linked to a certain chromosomal region, most studies use a candidate gene approach followed by a selection of polymorphisms within these genes, either based on their possibility to be functional, or based on the linkage disequilibrium between adjacent markers. For both candidate gene selection and SNP selection, several approaches have been described, and different software tools are available. However, mastering all these information sources and choosing between the different approaches can be difficult and time-consuming. Therefore, this article lists several of these in silico procedures, and the authors describe an empirical two-step fine mapping approach, in which candidate genes are prioritized using a bioinformatics approach (ENDEAVOUR), and the top genes are chosen for further SNP selection with a linkage disequilibrium based method (Tagger). The authors present the different actions that were applied within this approach on two previously identified linkage regions for muscle strength. This resulted in the selection of 331 polymorphisms located in 112 different candidate genes out of an initial set of 23,300 SNPs.

Covariance of isometric and dynamic arm contractions: multivariate genetic analysis.

The purpose of the present study was to examine genetic and environmental contributions to individual differences in maximal isometric, concentric and eccentric muscle strength and muscle cross-sectional area (MCSA) of the elbow flexors. A generality versus specificity hypothesis was explored to test whether the 4 strength variables share a genetic component or common factors in the environment or whether the genetic/environmental factors are specific for each strength variable. The 4 variables under study were measured in 25 monozygotic and 16 dizygotic male Caucasian twin pairs (22.4 +/- 3.7 years). The multivariate genetic analyses showed that all 4 variables shared a genetic and environmental component, which accounted for 43% and 6% in MCSA (h2 = 81%), 47% and 20% in eccentric (h2 = 65%), 58% and 4% in isometric (h2 = 70%) and 32% and 1% in concentric strength (h2 = 32%) respectively. The remaining variation was accounted for by contraction type specific and muscle cross-sectional area specific genetic and environmental effects, which accounted for 38% and 14% in MCSA, 18% and 15% in eccentric, 12% and 26% in isometric and 0% and 67% in concentric strength respectively. This exploratory multivariate study suggests shared pleiotropic gene action for MCSA, eccentric, isometric and concentric strength, with a moderate to high genetic contribution to the variability of these characteristics.

Genetic determinants of prepubertal and pubertal growth and development.

This article surveys the current general understanding of genetic influences on within- and between-population variation in growth and development in the context of establishing an International Growth Standard for Preadolescent and Adolescent Children. Traditional genetic epidemiologic analysis methods are reviewed, and evidence from family studies for genetic effects on different measures of growth and development is then presented. Findings from linkage and association studies seeking to identify specific genomic locations and allelic variants of genes influencing variation in growth and maturation are then summarized. Special mention is made of the need to study the interactions between genes and environments. At present, specific genes and polymorphisms contributing to variation in growth and maturation are only beginning to be identified. Larger genetic epidemiologic studies are needed in different parts of the world to better explore population differences in gene frequencies and gene-environment interactions. As advances continue to be made in molecular and statistical genetic methods, the genetic architecture of complex processes, including those of growth and development, will become better elucidated. For now, it can only be concluded that although the fundamental genetic underpinnings of the growth and development of children worldwide are likely to be essentially the same, there are also likely to be differences between populations in the frequencies of allelic gene variants that influence growth and maturation and in the nature of gene-environment interactions. This does not necessarily preclude an international growth reference, but it does have important implications for the form that such a reference might ultimately take.

Evidence for ACTN3 as a Speed Gene in Isolated Human Muscle Fibers.

PURPOSE: To examine the effect of α-actinin-3 deficiency due to homozygosity for the ACTN3 577X-allele on contractile and morphological properties of fast muscle fibers in non-athletic young men. METHODS: A biopsy was taken from the vastus lateralis of 4 RR and 4 XX individuals to test for differences in morphologic and contractile properties of single muscle fibers. The cross-sectional area of the fiber and muscle fiber composition was determined using standard immunohistochemistry analyses. Skinned single muscle fibers were subjected to active tests to determine peak normalized force (P0), maximal unloading velocity (V0) and peak power. A passive stretch test was performed to calculate Young's Modulus and hysteresis to assess fiber visco-elasticity. RESULTS: No differences were found in muscle fiber composition. The cross-sectional area of type IIa and IIx fibers was larger in RR compared to XX individuals (P<0.001). P0 was similar in both groups over all fiber types. A higher V0 was observed in type IIa fibers of RR genotypes (P<0.001) but not in type I fibers. The visco-elasticity as determined by Young's Modulus and hysteresis was unaffected by fiber type or genotype. CONCLUSION: The greater V0 and the larger fast fiber CSA in RR compared to XX genotypes likely contribute to enhanced whole muscle performance during high velocity contractions.

Genetic and environmental determination of tracking in static strength during adolescence.

The purpose of this study was to determine whether the observed phenotypic stability in static strength during adolescence, as measured by interage correlations in arm pull, is mainly caused by genetic and/or environmental factors. Subjects were from the Leuven Longitudinal Twin Study (n = 105 pairs, equally divided over 5 zygosity groups). Arm-pull data were aligned on age at peak height velocity to attenuate the temporal fluctuations in interage correlations caused by differences in timing of the adolescent growth spurt. Developmental genetic models were fitted using structural equation modeling. After the data were aligned on age at peak height velocity, the annual interage correlations conformed to a quasi-simplex structure over a 4-yr interval. The best-fitting models included additive genetic and unique environmental sources of variation. Additive genetic factors that already explained a significant amount of variation at previous measurement occasions explained 44.3 and 22.5% of the total variation at the last measurement occasion in boys and girls, respectively. Corresponding values for unique environmental sources of variance are 31.2 and 44.5%, respectively. In conclusion, the observed stability of static strength during adolescence is caused by both stable genetic influences and stable unique environmental influences in boys and girls. Additive genetic factors seem to be the most important source of stability in boys, whereas unique environmental factors appear to be more predominant in girls.

Growth in peak aerobic power during adolescence.

PURPOSE: To model the growth of peak aerobic power during adolescence in both sexes followed longitudinally from 10 to 18 yr. METHODS: Peak aerobic power (peak VO2) was measured annually during a maximal treadmill test with the Bruce protocol. Height and weight were measured semiannually. The Preece-Baines Model I growth function was used to fit curves to data for individuals with >/= six observations for peak aerobic power to estimate age at peak velocity (PV) for peak VO2 (age at PVPVO2), PVPVO2 (L x min(-1) x yr(-1)), and value at PVPVO2 (L x min(-1)) for each individual. Curves were successfully fitted for 83 individuals (48 males, 35 females). The model was also fitted to individual data for height and weight to estimate ages at peak height velocity (PHV) and peak weight velocity (PWV). Age at PVPVO2 was compared with ages at PHV and PWV. Pearson correlation coefficients were calculated between ages at PV and PV for peak VO2, height, and weight. RESULTS: Mean ages at PVPVO2 are 12.3 +/- 1.2 yr for females and 14.1 +/- 1.2 yr for males. Peak VO2 increases in both sexes throughout adolescence, with males having higher values than females at all ages. Age at PVPVO2 occurs nearly coincident with PHV and before PWV in both sexes. Correlation coefficients among ages at PHV, PWV, and PVPVO2 suggest a general maturity factor for body size and aerobic power. CONCLUSION: Growth in peak VO2 exhibits a clear growth spurt in both sexes during adolescence. The growth spurt occurs earlier in females but is of greater magnitude in males.

Genetic influences of sports participation in Portuguese families.

To estimate familial aggregation and quantify the genetic and environmental contribution to the phenotypic variation on sports participation (SP) among Portuguese families. The sample consisted of 2375 nuclear families (parents and two offspring each) from different regions of Portugal with a total of 9500 subjects. SP assessment was based on a psychometrically established questionnaire. Phenotypes used were based on the participation in sports (yes/no), intensity of sport, weekly amount of time in SP and the proportion of the year in which a sport was regularly played. Familial correlations were calculated using family correlations (FCOR) in the SAGE software. Heritability was estimated using variance-components methods implemented in Sequential Oligogenic Linkage Analysis Routines (SOLAR) software. Subjects of the same generation tend to be more similar in their SP habits than the subjects of different generations. In all SP phenotypes studied, adjusted for the effects of multiple covariates, the proportion of phenotypic variance due to additive genetic factors ranged between 40% and 50%. The proportion of variance attributable to environmental factors ranged from 50% for the participation in sports to 60% for intensity of sport. In this large population-based family study, there was significant familial aggregation on SP. These results highlight that the variation on SP phenotypes have a significant genetic contribution although environmental factors are also important in the familial resemblance of SP.

Genetic variation in human muscle strength--opportunities for therapeutic interventions?

Inter-individual variation in muscle mass and muscular fitness is broad; being at the upper tail of the distribution not only contributes to improve elite sport performance, but is also associated with longer independent living and higher quality-of-life in the aging population. Heritability estimates of muscle phenotypes are substantial and warrant the search for genetic components underlying this individual variability. The 'kinesiogenomics' field is young, but genetic associations with muscle strength-related phenotypes have been reported already for more than 40 candidate genes, and genome-wide scans revealed several additional regions of interest in the genome. Although genetic findings may reveal attractive targets for novel muscle atrophy therapy, the benefit of exercise as a major stimulus for natural muscle mass enhancement or maintenance cannot be underestimated.