The left hand second to fourth digit ratio (2D:4D) is not related to any physical fitness component in adolescent girls.

INTRODUCTION: The second to fourth-digit-ratio (2D:4D), a putative marker of prenatal androgen action and a sexually dimorphic trait, has been suggested to be related with fitness and sports performance, although results are not univocal. Most studies however focus on a single aspect of physical fitness or one sports discipline. METHODS: In this study the 2D:4D ratio of 178 adolescent girls (age 13.5-18 y) was measured on X-rays of the left hand. The relation between 2D:4D digit ratio and multiple aspects of physical fitness (balance, speed of limb movement, flexibility, explosive strength, static strength, trunk strength, functional strength, running speed/agility, and endurance) was studied by correlation analyses and stepwise multiple regression. For comparison the relation between these physical fitness components and a selected number of objectively measured anthropometric traits (stature, mass, BMI, somatotype components and the Bayer & Bailey androgyny index) are presented alongside the results of 2D:4D digit ratio. RESULTS: Left hand 2D:4D digit ratio (0.925±0.019) was not significantly correlated with any of the physical fitness components nor any of the anthropometric variables included in the present study. 2D:4D did not enter the multiple stepwise regression for any of the physical fitness components in which other anthropometric traits explained between 9.2% (flexibility) and 33.9% (static strength) of variance. CONCLUSION: Unlike other anthropometric traits the 2D:4D digit ratio does not seem to be related to any physical fitness component in adolescent girls and therefore most likely should not be considered in talent detection programs for sporting ability in girls.

Digit ratio (2D:4D) and competition level in world-class female gymnasts.

In this study the relationship between the digit ratio (2D:4D) and artistic gymnastics performance and competition level was investigated in a sample of Caucasian world-class female gymnasts (n = 145). The sample was divided into three competition events (compulsories, free work, final score). Within each event three performance groups (lowest, middle, and highest) were based on the competition scores gathered at the World Championships at Rotterdam, the Netherlands, in 1987. Lengths of the digits were measured on X-rays of the left hand. Several anthropometric dimensions were measured and from those measurements an androgyny index (Bayer & Bayley) and somatotype components (endomorphy, mesomorphy, ectomorphy) were calculated. Although significant differences in some anthropometric characteristics between the performance level groups within each competition event were observed, no significant differences in the 2D:4D ratios were found between the performance level groups, varying from 0.918 ± 0.020 to 0.924 ± 0.020. Also, no significant correlations were observed between the 2D:4D ratio and anthropometric, androgyny, and somatotype characteristics, r varying from r = -0.11 to r = +0.12. It can be concluded that in this sample the 2D:4D digit ratio, unlike other anthropometric characteristics, is not a discriminating factor for the performance in artistic gymnastics performance on a world-class level.

The left hand second to fourth digit ratio (2D:4D) does not discriminate world-class female gymnasts from age matched sedentary girls.

INTRODUCTION: The second to fourth-digit-ratio (2D:4D), a putative marker of prenatal androgen action and a sexually dimorphic trait, has been suggested to be related with sports performance, although results are not univocal. If this relation exists, it is most likely to be detected by comparing extreme groups on the continuum of sports performance. METHODS: In this study the 2D:4D ratio of world-class elite female artistic gymnasts (n = 129), competing at the 1987 Rotterdam World-Championships was compared to the 2D:4D ratio of sedentary age-matched sedentary girls (n = 129), alongside with other anthropometric characteristics including other sexually dimorphic traits such as an androgyny index (Bayer & Bayley) and Heath-Carter somatotype components (endomorphy, mesomorphy, ectomorphy) using AN(C)OVA. 2D:4D was measured on X-rays of the left hand. RESULTS: Left hand 2D:4D digit ratio in world class elite female gymnasts (0.921±0.020) did not differ significantly from 2D:4D in age-matched sedentary girls (0.924±0.018), either with or without inclusion of potentially confounding covariates such as skeletal age, height, weight, somatotype components or androgyny index. Height (161.9±6.4 cm vs 155.4±6.6 cm p<0.01), weight (53.9±7.6 kg vs 46.2 6.3 kg p<0.01), BMI (20.51±2.41 kg/m(2) vs 19.05±1.56 kg/m(2)), skeletal age (15.2±1.1 y vs 14.5±1.2 y p>0.01), somatotype components (4.0/3.0/2.9 vs 1.7/3.7/3.2 for endomorphy (p<0.01), mesomorphy (p<0.01) and ectomorphy (p<0.05) respectively) all differed significantly between sedentary girls and elite gymnasts. As expressed by the androgyny index, gymnasts have, on average, broader shoulders relative to their hips, compared to the reference sample. Correlations between the 2D:4D ratio and chronological age, skeletal age, and the anthropometric characteristics are low and not significant. CONCLUSION: Although other anthropometric characteristics of sexual dimorphism were significantly different between the two samples, the present study cannot discriminate sedentary girls from world-class female gymnasts by means of the left hand 2D:4D ratio.

Subject positioning in the BOD POD® only marginally affects measurement of body volume and estimation of percent body fat in young adult men.

INTRODUCTION: The aim of the study was to evaluate whether subject positioning would affect the measurement of raw body volume, thoracic gas volume, corrected body volume and the resulting percent body fat as assessed by air displacement plethysmography (ADP). METHODS: Twenty-five young adult men (20.7±1.1 y, BMI = 22.5±1.4 kg/m(2)) were measured using the BOD POD® system using a measured thoracic gas volume sitting in a 'forward bent' position and sitting up in a straight position in random order. RESULTS: Raw body volume was 58±124 ml (p<0.05) higher in the 'straight' position compared to the 'bent' position. The mean difference in measured thoracic gas volume (bent-straight = -71±211 ml) was not statistically significant. Corrected body volume and percent body fat in the bent position consequently were on average 86±122 ml (p<0.05) and 0.5±0.7% (p<0.05) lower than in the straight position respectively. CONCLUSION: Although the differences reached statistical significance, absolute differences are rather small. Subject positioning should be viewed as a factor that may contribute to between-test variability and hence contribute to (in)precision in detecting small individual changes in body composition, rather than a potential source of systematic bias. It therefore may be advisable to pay attention to standardizing subject positioning when tracking small changes in PF are of interest. The cause of the differences is shown not to be related to changes in the volume of isothermal air in the lungs. It is hypothesized and calculated that the observed direction and magnitude of these differences may arise from the surface area artifact which does not take into account that a subject in the bent position exposes more skin to the air in the device therefore potentially creating a larger underestimation of the actual body volume due to the isothermal effect of air close to the skin.

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.

Effect of different swim caps on the assessment of body volume and percentage body fat by air displacement plethysmography.

Isothermal air trapped in scalp hair generates an underestimation of body volume when it is measured by air displacement plethysmography. The aim of this study was to examine the effect of wearing different types of swim caps on the measurement of body volume and percentage body fat by air displacement plethysmography. It was hypothesized that wearing a silicone swim cap would more thoroughly compress scalp hair compared with a lycra swim cap, yielding higher estimates of body volume and percent body fat. Thirty female participants aged 25.7 ± 6.4 years were measured in random order when wearing no swim cap, a lycra swim cap or a silicone swim cap. For the no-cap versus lycra cap condition, the mean bias for body volume was -0.579 ± 0.380 litre (limits of agreement: -1.340 to 0.181 litre) and for percent fat -4.9 ± 3.1% fat (limits of agreement: -11.2 to 1.3% fat) (P < 0.05). For the silicone versus lycra condition, the mean bias for body volume was 0.137 ± 0.099 litre (limits of agreement: -0.062 to 0.335 litre) and for percent fat 1.2 ± 0.9% fat (limits of agreement: -0.5 to 2.9% fat) (P < 0.05). In conclusion, attention should be paid to optimal compression of isothermal air trapped in scalp hair when using air displacement plethysmography. The present results suggest that this compression may be more thorough when wearing a silicone swim cap.

Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene.

Muscle strength is important in functional activities of daily living and the prevention of common pathologies. We describe the two-staged fine mapping of a previously identified linkage peak for knee strength on chr12q12-14. First, 209 tagSNPs in/around 74 prioritized genes were genotyped in 500 Caucasian brothers from the Leuven Genes for Muscular Strength study (LGfMS). Combined linkage and family-based association analyses identified activin receptor 1B (ACVR1B) and inhibin ß C (INHBC), part of the transforming growth factor ß pathway regulating myostatin - a negative regulator of muscle mass - signaling, for follow-up. Second, 33 SNPs, selected in these genes based on their likelihood to functionally affect gene expression/function, were genotyped in an extended sample of 536 LGfMS siblings. Strong associations between ACVR1B genotypes and knee muscle strength (P-values up to 0.00002) were present. Of particular interest was the association with rs2854464, located in a putative miR-24-binding site, as miR-24 was implicated in the inhibition of skeletal muscle differentiation. Rs2854464 AA individuals were ∼2% stronger than G-allele carriers. The strength increasing effect of the A-allele was also observed in an independent replication sample (n=266) selected from the Baltimore Longitudinal Study of Aging and a Flemish Policy Research Centre Sport, Physical Activity and Health study. However, no genotype-related difference in ACVR1B mRNA expression in quadriceps muscle was observed. In conclusion, we applied a two-stage fine mapping approach, and are the first to identify and partially replicate genetic variants in the ACVR1B gene that account for genetic variation in human muscle strength.

Heritability of childhood weight gain from birth and risk markers for adult metabolic disease in prepubertal twins.

OBJECTIVE: Associations between size at birth, postnatal weight gain, and potential risk for adult disease have been variably explained by in utero exposures or genetic risk that could affect both outcomes. We utilized a twin model to explore these hypotheses. METHODS: One hundred pairs of healthy twins aged 8.9 yr (range, 7.2-10.9 yr) had fasting blood samples collected, blood pressure (BP) measured, and anthropometry assessed. All measurements were converted to sd scores (SDS) to adjust for age and sex. RESULTS: Mean birth weights in both monozygotic and dizygotic twins were -0.90 SDS lower than the UK reference. In postnatal life, 58% of monozygotic twins and 59% of dizygotic twins showed rapid weight gain (a change of more than +0.67 in weight SDS) from birth. Postnatal weight gain was positively associated with sum of skinfolds (r = 0.51; P < 0.0005), fasting insulin levels (r = 0.35; P < 0.0005), systolic BP (r = 0.30; P < 0.0005), and diastolic BP (r = 0.15; P < 0.05) at follow-up. Heritability estimates (additive genetic components) were calculated using variance components models for: birth weight, 44%; postnatal weight gain, 80%; childhood height, 89%; body mass index, 72%; sum of skinfolds, 89%; waist circumference, 74%; fasting insulin, 65%; systolic BP, 33%; and diastolic BP, 29%. CONCLUSIONS: Postnatal weight gain from birth, rather than birth weight, was associated with childhood risk markers for adult metabolic disease. Childhood weight gain was highly heritable, and genetic factors associated with postnatal weight gain are likely to also contribute to risks for adult disease.

Timing of adolescent somatic maturity and midlife muscle function: a 34-yr follow-up.

UNLABELLED: Midlife muscle function is associated with disability and premature mortality later in life. Biological maturity is associated with muscle function during growth; however, it is unknown whether biological maturity during adolescence is associated with muscle mass and function in middle-aged healthy men. PURPOSE: The purpose of this study is to evaluate if late maturation during adolescence is associated with better muscle function in middle-aged men. METHODS: One hundred and thirty-three middle-aged men 45 to 49 yr were included. During adolescence, height was measured at annual intervals, and age at peak height velocity was derived from the individual growth curves and was used to classify participants into early-, average-, and late-maturing groups. Outcome measurements and tests included lean body mass (dual-energy x-ray absorptiometry), muscle-bone areas, isometric strength, and muscle power. Stature, body mass, cardiorespiratory fitness (V O2peak), and physical activity level were included as confounding characteristics. RESULTS: Contrasting maturity groups did not differ in the confounding characteristics (size, mass, aerobic power, and physical activity). Furthermore, no differences were observed for lean mass and muscle-bone areas. Late-maturing adults had greater strength and power, and average differences were between 0.7 and 0.9 SD units (P < 0.05). CONCLUSIONS: Late maturation during adolescence is associated with better muscle function at middle age.

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.

Clustering of metabolic risk factors in young adults: genes and environment.

OBJECTIVE: Evidence of a genetic basis of metabolic risk factors (MRFs) is growing. Studies examining the genetic and environmental basis of the clustering of MRFs, grouped together in the metabolic syndrome (MetS), are however sparse. The aim of this study therefore was to study the heritabilities of the MRFs and the genetic and environmental correlations between the MRFs. METHODS: Study participants were 768 Caucasian twins coming from 418 pairs (18-34 years). MRFs were those included in the National Cholesterol Education Program Adult Treatment Panel III definition of the MetS. Multivariate path analysis on the continuous MRFs of the MetS was implemented. RESULTS: Heritabilities ranged between 47.0% and 80.2% (men) and 58.5% and 77.9% (women) for the individual MRFs. Evidence was found for overarching genetic (A) and environmental (E) sources of variance, both however loading mainly on waist circumference. Furthermore, the model included a 'lipids' and a 'blood pressure'-factor both in part attributable to A and E. The majority of the variance however was MRF-specific. CONCLUSION: Based on our sample of young adults with a low prevalence of the MetS, it can be concluded that both genes and environment contribute significantly to the clustering of the MRFs although the majority of the variation is MRF-specific. Therefore, future QTL searches in young adults may want to focus on MRF-specific loci, rather than 'cluster-phenotypes' such as the MetS.

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.

Genetic and environmental causes of tracking in explosive strength during adolescence.

PURPOSE: To determine whether the observed phenotypic stability in explosive strength during adolescence, as measured by inter-age correlations in vertical jump (VTJ), is mainly caused by genetic and/or environmental factors. METHODS: Subjects are from the Leuven Longitudinal Twin Study (LLTS) (n = 105 pairs, equally divided over five zygosity groups). VTJ data were aligned on age at peak height velocity (APHV) to attenuate the temporal fluctuations in inter-age correlations caused by differences in timing of the adolescent growth spurt. Simplex models were fitted using structural equation modelling. RESULTS: After aligning the data on APHV, the annual inter-age correlations show a clear simplex structure over a 4 year interval. The best fitting models included additive genetic and unique environmental sources of variation. Heritability estimates ranged between 60.8% (CI 37.7%-77.2%) and 87.3% (CI 74.2%-94.0%) for boys and between 76.5% (CI 56.7%-89.0%) and 88.6% (CI 77.8%-94.1%) for girls. Up to 56.4% and 62.8% of the total variation at the last measurement occasion is explained by additive genetic factors that already explained a significant amount of variation at previous measurement occasions in boys and girls respectively. It thus can be concluded that the observed stability of explosive strength during adolescence is mainly caused by a stable genetic influence in boys and girls. CONCLUSIONS: Additive genetic factors seem to be the main cause of the observed phenotypic stability in VTJ performance in boys and girls during adolescence.

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.

A quantitative trait locus on 13q14.2 for trunk strength.

Previous findings show strong evidence for the role of retinoblastoma (Rb) in myoblast proliferation and differentiation. However, it is not known whether variation in the retinoblastoma gene (RB1 ) is responsible for normal variation in human muscle strength. Therefore, a linkage analysis for quantitative traits was performed on 329 young male siblings from 146 families with muscle strength, using a polymorphic marker in RB1 (D13S153 on 13q14.2). Trunk strength, a general strength indicator that requires activation of large muscle groups, was measured on a Cybex TEF isokinetic dynamometer. We found evidence for linkage between locus D13S153 at 13q14.2 and several measurements of trunk flexion with LOD scores between 1.62 and 2.78 (.002< p <.0002). No evidence for linkage was found with trunk extension. This first exploration of the relationship between RB1 and human muscle strength through linkage analysis warrants efforts for further fine mapping of this region.

Determinants and upper-limit heritabilities of skeletal muscle mass and strength.

The purpose of this study was to estimate the genetic and environmental contribution to variation in skeletal muscle mass and strength. In addition, important determinants were analyzed by stepwise multiple regression. In a large (N = 748) sibling pair sample of young brothers, ages 24.3 +/- 4.5 years, upper-limit heritabilities (t2) were estimated as a proportion of genetic and shared environmental variability over total phenotypic variability by the variance components method in QTDT. Maximal isometric strength measures of knee, trunk, and elbow had higher t2 (82 to 96%) than concentric strength (63 to 87%) on Cybex isokinetic dynamometers. Indicators of muscle mass revealed very high transmissions (>90%) whereas t2 was lower for adiposity (<70%). Stepwise regression showed that fat-free mass was the primary determinant in knee and trunk strength (partial explained variance, R2 = 33-45%), but a local muscularity estimate (forearm circumference) was the main covariable for elbow strength (partial R2 = 18-39%). In this sample neither age nor physical activity, measured by the sport index of Baecke, appeared to be an important determinant of muscle mass or strength. These results show that maximal muscle strength and mass are highly transmissible and that muscle mass is the primary determinant of muscle strength.