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1.
Physiol Genomics ; 51(1): 12-26, 2019 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-30526334

RESUMO

Metabolic syndrome (MetS) is a highly prevalent condition causing increased risk of several life-threatening diseases. MetS has a pronounced hereditary basis but is also influenced by environmental factors, partly through epigenetic mechanisms. In this study, the five phenotypes underlying MetS were incorporated into a continuous score for metabolic fitness (MF), and associations with both genotypic variation and leukocyte DNA methylation were investigated. Baseline MF phenotypes (waist circumference, blood pressure, blood glucose, serum triglycerides, and high-density lipoproteins) of 710 healthy Flemish adults were measured. After a 10 yr period, follow-up measures were derived from 618 of these subjects. Genotyping was performed for 65 preselected MF-related genetic variants. Next, full genetic predisposition scores (GPSs) were calculated, combining genotype scores of multiple genetic variants. Additionally, stepwise GPSs were constructed, including only the most predictive genetic variants for the different MF phenotypes. For a subset of 68 middle-aged men, global and gene-specific DNA methylation was investigated, and a biological pathway analysis was performed. The full GPSs were predictive for some baseline MF phenotypes, but not for changes over time. Only a limited number of genetic variants were significantly predictive individually. On the contrary, global and gene-specific DNA methylation was associated with changes in the MF phenotypes rather than with the baseline measures, indicating that effects of DNA methylation on MF are somewhat delayed. Furthermore, several biological pathways were associated with the MF phenotypes through gene promoter methylation. For CETP, G6PC2, MC4R, and TFAP2B both a genetic and epigenetic relationship was found with MF.


Assuntos
Metilação de DNA/genética , Leucócitos/metabolismo , Síndrome Metabólica/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Bélgica , Glicemia , Pressão Sanguínea , Epigênese Genética , Feminino , Seguimentos , Predisposição Genética para Doença , Genótipo , Voluntários Saudáveis , Humanos , Lipoproteínas HDL/sangue , Masculino , Pessoa de Meia-Idade , Fenótipo , Regiões Promotoras Genéticas , Triglicerídeos/sangue , Circunferência da Cintura , Adulto Jovem
2.
Scand J Med Sci Sports ; 28(11): 2358-2368, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29858513

RESUMO

Relationships among skeletal age (SA), body size and fundamental motor skills (FMS) and motor performance were considered in 155 boys and 159 girls 3-6 years of age. Stature and body mass were measured. SA of the hand-wrist was assessed with the Tanner-Whitehouse II 20 bone method. The Test of Gross Motor Development, 2nd edition (TGMD-2), and the Preschool Test Battery were used, respectively, to assess FMS and motor performance. Based on hierarchical regression analyses, the standardized residuals of SA on chronological age (SAsr) explained a maximum of 6.1% of the variance in FMS and motor performance in boys (ΔR2 3 , range 0.0%-6.1%) and a maximum of 20.4% of the variance in girls (ΔR2 3 , range 0.0%-20.4%) over that explained by body size and interactions of SAsr with body size (step 3). The interactions of the SAsr and stature and body mass (step 2) explained a maximum of 28.3% of the variance in boys (ΔR2 2 , range 0.5%-28.3%) and 16.7% of the variance in girls (ΔR2 2 , range 0.7%-16.7%) over that explained by body size alone. With the exception of balance, relationships among SAsr and FMS or motor performance differed between boys and girls. Overall, SA per se or interacting with body size had a relatively small influence in FMS and motor performance in children 3-6 years of age.


Assuntos
Desenvolvimento Infantil , Destreza Motora , Estatura , Tamanho Corporal , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Equilíbrio Postural , Análise de Regressão , Esqueleto
3.
Scand J Med Sci Sports ; 24(3): e140-7, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24000794

RESUMO

Studies have shown important associations between low birth weight (BW), a variety of morbidities, and reduced motor performance. Using a twin sample, this study aimed to verify (a) the magnitude of the association between BW and neuromotor performance (NMP); (b) if the NMP of twins is within the normal range; and (c) if monozygotic (MZ) and dizygotic (DZ) twins' intra-pair similarities in NMP are of equal magnitude. We sampled 191 twins (78 MZ; 113 DZ distinguished through their DNA), aged 8.9 ± 3.1 years with an average BW of 2246.3 ± 485.4 g; gestational characteristics and sports practices were also assessed. The Zurich Neuromotor test battery, comprising five main tasks, was used; Twins NMP assessments were highly reliable (intra-rater reliability: 0.76-0.99). BW accounted for up to 11% of the total variance of NMP across the zygosity groups. Between 32.7% and 76.9% of children were below the 10th percentile for tasks requiring timing of performance (purely motor task, adaptive fine motor task, dynamic, and static balance), while less than 6.4% of children were below the 10th percentile for associated movements. MZ twins NMP intraclass correlations showed greater similarity than DZ twins in three of the five tasks, suggesting the importance of genetic factors in NMP.


Assuntos
Peso ao Nascer/fisiologia , Destreza Motora/fisiologia , Análise e Desempenho de Tarefas , Gêmeos Dizigóticos , Gêmeos Monozigóticos , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Equilíbrio Postural/fisiologia
4.
Scand J Med Sci Sports ; 23(4): 494-500, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22092351

RESUMO

Peroxisome proliferator-activated receptor alpha (PPARα), a ligand-dependent transcription factor, regulates fatty acid metabolism in heart and skeletal muscle. The intron 7 G/C polymorphism (rs4253778) has been associated with athletic performance. The rare C-allele was predominant in power athletes, whereas the G-allele was more frequent in endurance athletes. In the present study, we investigated the association between this polymorphism and strength characteristics in nonathletic, healthy young adults (n = 500; age 24.2 ± 4.4 years). Knee torque was measured during concentric knee flexion and extension movements at 60°/s, 120°/s, and 240°/s during 3, 25, and 5 repetitions, respectively. Also, resistance to muscle fatigue (i.e. work last 20% repetitions/work first 20% repetitions *100) was calculated. Differences in knee strength phenotypes between GG homozygous individuals and C-allele carriers were analyzed. The polymorphism did not influence the ability to produce isometric or dynamic knee flexor or extensor peak torque during static or dynamic conditions in this population (0.23 < P < 0.95). Similar results were found for the endurance ratio, a measure for resistance to muscle fatigue. In conclusion, the PPARα intron 7 G/C polymorphism does not seem to influence strength characteristics in a nonathletic population.


Assuntos
Fadiga Muscular/genética , Força Muscular/genética , PPAR alfa/genética , Adulto , Genótipo , Humanos , Íntrons , Articulação do Joelho/fisiologia , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Irmãos , Torque , Adulto Jovem
5.
Acta Physiol (Oxf) ; 204(4): 555-61, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21933355

RESUMO

AIM: In Western European populations, about 18% of all individuals have a complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene. Actn3(-/-) knock-out mice show increased activity of multiple enzymes in the aerobic metabolic pathway in fast muscle fibres. Whether this observation is also present in human XX genotype carriers compared to RR carriers has not been studied in a fibre-type-specific approach in humans. The purpose of this study was therefore to compare fibre-type-specific oxidative enzyme activity in humans with a different ACTN3 R577X genotype. METHODS: Vastus lateralis muscle biopsy samples of 17 XX and 16 RR subjects were used to measure markers of oxidative capacity [cytochrome c oxidase (CYTOX) and succinate dehydrogenase (SDH)] in a fibre-type-specific assay using enzyme histochemistry. RESULTS: Cytochrome c oxidase staining showed no significant genotype group differences in type I or type II muscle fibres. Also, we found no significant differences in SDH staining of fast fibres comparing XX and RR carriers. CONCLUSION: In conclusion, the increase in oxidative enzyme activity of fast muscle fibres, as reported in an Actn3(-/-) knock-out mouse, was not observed in our human samples. Known differences in metabolic characteristics of muscle fibres in rodents compared to humans may in part explain this discrepancy in findings.


Assuntos
Actinina/deficiência , Actinina/genética , Complexo IV da Cadeia de Transporte de Elétrons/genética , Fibras Musculares de Contração Rápida/enzimologia , Succinato Desidrogenase/genética , Animais , Complexo IV da Cadeia de Transporte de Elétrons/análise , Complexo IV da Cadeia de Transporte de Elétrons/metabolismo , Feminino , Genótipo , Humanos , Masculino , Camundongos , Camundongos Knockout , Oxirredução , Polimorfismo Genético , Succinato Desidrogenase/análise , Succinato Desidrogenase/metabolismo , Adulto Jovem
6.
Scand J Med Sci Sports ; 21(2): 318-23, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19903321

RESUMO

This study examined the association between demographic [age, sex, socioeconomic status (SES)] and socio-cultural [father, mother, sibling physical activity (PA); peers and physical education teacher influences] correlates and low, moderate and high levels of PA among Portuguese adolescents aged 10-18 years. A total of 3352 males and females attending basic and secondary schools, their parents and siblings were sampled across four regions of Portugal. PA was assessed with a psychometrically validated questionnaire. Multinomial logistic regression was used. Age was positively related with moderate and high PA. Boys and adolescents of high SES were more likely to participate in moderate and high PA. Adolescents were more likely to participate in high PA when theirs mother and sibling(s) also participated. Peers had a positive influence on participation in moderate and high PA, while physical education teachers did not have an influence. The results indicated that demographic and socio-cultural correlates--in particular age, sex, SES, mother and sibling PA, and peer influence--were significantly associated with adolescent PA. These results also suggested that interventions should focus on girls and low SES adolescents who face higher risk of inactivity.


Assuntos
Comportamento do Adolescente/fisiologia , Exercício Físico , Adolescente , Fatores Etários , Criança , Estudos Transversais , Docentes , Feminino , Humanos , Modelos Logísticos , Masculino , Pais , Grupo Associado , Portugal , Fatores Sexuais , Irmãos , Fatores Socioeconômicos , Inquéritos e Questionários
7.
Scand J Med Sci Sports ; 21(4): 580-8, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20459472

RESUMO

Repeated, intense use of muscles leads to a decline in performance known as muscle fatigue. Resistance to muscle fatigue depends on age, sex, muscle fiber type, activation by the nervous system and training. Heritability of muscle strength phenotypes ranges between 31% and 78%, although little is known about heritability of muscle fatigue. A first aim of this study was to estimate the heritability for fatigue resistance after a short bout of intense exercise of the knee musculature. The main purpose was to identify chromosomal regions linked to muscle fatigue applying genome-wide linkage analyses. A selection of 283 informative male siblings (17-36 years old), belonging to 105 families, was used to conduct a genome-wide SNP-based multipoint linkage analysis. Heritabilities for resistance to muscle fatigue ranged from 21% to 54%. The strongest linkage signal was found at 19q13.11 (LOD=2.158; P<0.0001) and at 1q32.1 (LOD=2.142; P<0.0001) for resistance to fatigue of the knee flexors; however, no marker reached genome-wide significance. Several other regions with LOD>1.5 were found (1p31.3, 3q29, 8p22, 11q25 and 19q12). When replicated in an independent sample, these results warrant further fine mapping studies aiming to detect genes that underlie variation in muscle fatigue.


Assuntos
Fadiga Muscular/genética , Adolescente , Adulto , Teste de Esforço , Frequência do Gene , Ligação Genética , Genoma , Estudo de Associação Genômica Ampla , Técnicas de Genotipagem , Heterozigoto , Humanos , Masculino , Fadiga Muscular/fisiologia , Característica Quantitativa Herdável , Irmãos , Adulto Jovem
8.
Scand J Med Sci Sports ; 20(4): 679-85, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19705998

RESUMO

The aims of this study are twofold: (1) to present the latent growth model, its strategy and usefulness in modelling sport participation over a 6-year period in youngsters (2) and to study the impact of biological maturation in sport participation changes. A standardized sport participation questionnaire using h/week/year as the unit of analysis was applied to 588 Belgium boys 13-18 years of age followed longitudinally for 6 years. Skeletal age was used to estimate biological maturation. Growth curve modelling with robust estimation was used. Sport participation changes showed a curvilinear trend: baseline values (3.18+/-0.13 h/week/year), a linear trend that indicates the rate of change (0.70+/-0.11) and a quadratic trend indicating deceleration, i.e. a change in the rate of change (-0.07+/-0.02) were all statistically significant (P<0.05), as well as inter-individual differences in these three parameters. Up to 16.8 years, the rate of sports participation increased 0.70 h/week/year and then declined. Biological maturation did not show any association with adolescent changes in sport participation.


Assuntos
Atividades de Lazer , Modelos Teóricos , Esportes , Adolescente , Bélgica , Feminino , Humanos , Estudos Longitudinais , Masculino , Inquéritos e Questionários
9.
Med Sport Sci ; 54: 28-42, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19696506

RESUMO

Estimated genetic and environmental contributions to individual differences in physical performance phenotypes, responsiveness to intermittent, aerobic and strength training, and specific skill training protocols are the focus of this chapter. Data are derived primarily from twin and family studies, although methods of analysis vary considerably. Estimates of heritability span a wide range for several performance phenotypes and the responsiveness to training. This is explained, in part, by differences in sample characteristics and analytical strategies. Corresponding data for skill acquisition are very limited. Data dealing with the effects of age, sex, maturation and ethnicity on heritability estimates are lacking, and information on behavioral phenotypes that may be related to performance is not available.


Assuntos
Desempenho Atlético , Fenômenos Genéticos , Meio Ambiente , Genes , Genótipo , Humanos , Modelos Genéticos , Força Muscular/genética , Consumo de Oxigênio/genética , Fenótipo , Treinamento Resistido
10.
Eur J Clin Nutr ; 63(3): 421-9, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17971826

RESUMO

OBJECTIVE: The association of sedentary behaviour and leisure time physical activity with a validated continuous metabolic syndrome risk score was investigated in adults. SUBJECTS/METHODS: A number of 992 adults (559 men) without cardiovascular disease or diabetes. Subjects reported time spent in leisure time physical activity and television watching/computer activities. A validated metabolic syndrome risk score, based on waist circumference, triglycerides, blood pressure, fasting plasma glucose and high-density lipoprotein cholesterol, was used. The metabolic syndrome risk score and time spent in sedentary behaviour and physical activity were analysed as continuous variables using multiple linear regression. RESULTS: Metabolic syndrome risk was positively associated with time spent watching television/computer activities, irrespective of physical activity level, and after adjustment for age, education level, smoking status and dietary intake in women aged > or =45 years (beta=0.184, P<0.05). Independent of the time being sedentary, moderate to vigorous leisure time physical activity was inversely associated with metabolic syndrome risk in men (<45 years: beta=-0.183, P<0.01; > or =45 years: beta=-0.192, P<0.01) and women aged > or =45 years (beta=-0.203, P<0.01). CONCLUSIONS: Although cross-sectional, the present results support inclusion of efforts to decrease sedentary behaviour in metabolic syndrome prevention strategies for women aged > or =45 years, besides promotion of moderate to vigorous physical activity, since both behavioural changes might show additional effects.


Assuntos
Exercício Físico/fisiologia , Comportamentos Relacionados com a Saúde , Síndrome Metabólica/etiologia , Adulto , Bélgica , Estudos Transversais , Feminino , Humanos , Atividades de Lazer , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco
11.
J Sports Med Phys Fitness ; 48(2): 201-10, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18427416

RESUMO

AIM: The aim of this study was to analyse differences in physical activity, cardiorespiratory fitness (CRF) and muscle strength between normal weight, overweight and obese adults and to investigate the role of physical activity variables in the analyses of differences in CRF and muscle strength between these groups. METHODS: A total of 807 men and 633 women (age: 18-75 years) were included in this cross-sectional study. Weight, height, waist circumference (WC) and bioelectrical impedance were measured. Different dimensions of physical activity were assessed using a validated questionnaire. CRF (VO(2peak)) was evaluated by a maximal test on a cycle ergometer. Knee strength was measured with a calibrated Biodex System Pro 3 dynamometer. Three methods were used for classification in obesity groups: body mass index (BMI), WC and combined BMI-WC classification. RESULTS: Health-related sports and physical activity level are negatively associated with obesity in men, but not in women. Television viewing is positively associated with obesity, while VO(2peak)/fat free mass (FFM) and knee strength/FFM show a negative association with obesity in both genders. Overall, subjects with normal WC seem to be more physically active and to have somewhat better values for CRF compared to those with high WC within the same BMI category. Lower values for relative CRF and knee strength in obese subjects compared to their lean counterparts remain after adjustment for physical activity. CONCLUSION: This study confirms the lower level of physical activity and the impaired CRF and knee strength in obese adults compared to their lean counterparts. This study also sustains the importance of measuring WC and CRF during clinical examinations.


Assuntos
Atividade Motora/fisiologia , Força Muscular/fisiologia , Obesidade/fisiopatologia , Consumo de Oxigênio/fisiologia , Aptidão Física/fisiologia , Adolescente , Adulto , Idoso , Bélgica , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais
12.
J Med Genet ; 45(5): 275-83, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18178634

RESUMO

BACKGROUND: Maintenance of high muscular fitness is positively related to bone health, functionality in daily life and increasing insulin sensitivity, and negatively related to falls and fractures, morbidity and mortality. Heritability of muscle strength phenotypes ranges between 31% and 95%, but little is known about the identity of the genes underlying this complex trait. As a first attempt, this genome-wide linkage study aimed to identify chromosomal regions linked to muscle and bone cross-sectional area, isometric knee flexion and extension torque, and torque-length relationship for knee flexors and extensors. METHODS: In total, 283 informative male siblings (17-36 years old), belonging to 105 families, were used to conduct a genome-wide SNP-based multipoint linkage analysis. RESULTS: The strongest evidence for linkage was found for the torque-length relationship of the knee flexors at 14q24.3 (LOD = 4.09; p<10(-5)). Suggestive evidence for linkage was found at 14q32.2 (LOD = 3.00; P = 0.005) for muscle and bone cross-sectional area, at 2p24.2 (LOD = 2.57; p = 0.01) for isometric knee torque at 30 degrees flexion, at 1q21.3, 2p23.3 and 18q11.2 (LOD = 2.33, 2.69 and 2.21; p<10(-4) for all) for the torque-length relationship of the knee extensors and at 18p11.31 (LOD = 2.39; p = 0.0004) for muscle-mass adjusted isometric knee extension torque. CONCLUSIONS: We conclude that many small contributing genes rather than a few important genes are involved in causing variation in different underlying phenotypes of muscle strength. Furthermore, some overlap in promising genomic regions were identified among different strength phenotypes.


Assuntos
Cromossomos Humanos Par 14 , Ligação Genética , Genoma Humano , Joelho/fisiologia , Força Muscular/genética , Adolescente , Adulto , Variação Genética , Humanos , Masculino , Fenótipo
13.
Osteoporos Int ; 18(9): 1235-42, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17406766

RESUMO

INTRODUCTION: Vitamin D receptor (VDR) polymorphisms have been associated with fracture risk and muscle strength, although evidence for the latter is limited and conflicting. METHODS: BsmI, TaqI and FokI VDR polymorphisms were genotyped in 253 men (54.9 +/- 10.2 yr) and 240 women (41.5 +/- 13.2 yr). Haplotypes were constructed for BsmI and TaqI. Handgrip, isometric (at 60 degrees , 120 degrees and 180 degrees joint angle) and eccentric torques (60 degrees /s) of knee extension and flexion were analysed using AN(C)OVA. Torque-velocity curves were constructed for concentric torques at 60 degrees /s, 180 degrees /s and 240 degrees /s and analysed using multivariate AN(C)OVA. Age, height and fat-free mass were included as covariates. RESULTS: Quadriceps isometric and concentric strength were higher in female f/f homozygotes compared to F allele carriers. Adjustment for confounding factors rendered results for quadriceps isometric strength at 120 degrees non-significant. No significant association was found with BsmI-TaqI haplotype in women. In contrast, male Bt/Bt homozygotes had higher isometric quadriceps strength at 150 degrees and higher concentric quadriceps strength than bT allele carriers without and with adjustment for confounding factors. No association was observed with FokI in men. In both genders, no interaction effect was present between BsmI-TaqI haplotype and FokI. CONCLUSIONS: Different VDR gene polymorphisms are associated with quadriceps strength in men and women.


Assuntos
Força Muscular/genética , Polimorfismo Genético/genética , Receptores de Calcitriol/genética , Adulto , Fatores Etários , Idoso , Envelhecimento/genética , Estudos de Coortes , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Força Muscular/fisiologia , Fatores Sexuais
14.
Int J Obes (Lond) ; 31(8): 1295-301, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17342076

RESUMO

OBJECTIVE: To study the genetic and environmental determination of variation in Heath-Carter somatotype (ST) components (endomorphy, mesomorphy and ectomorphy). DESIGN: Multivariate path analysis on twin data. SUBJECTS: Eight hundred and three members of 424 adult Flemish twin pairs (18-34 years of age). RESULTS: The results indicate the significance of sex differences and the significance of the covariation between the three ST components. After age-regression, variation of the population in ST components and their covariation is explained by additive genetic sources of variance (A), shared (familial) environment (C) and unique environment (E). In men, additive genetic sources of variance explain 28.0% (CI 8.7-50.8%), 86.3% (71.6-90.2%) and 66.5% (37.4-85.1%) for endomorphy, mesomorphy and ectomorphy, respectively. For women, corresponding values are 32.3% (8.9-55.6%), 82.0% (67.7-87.7%) and 70.1% (48.9-81.8%). For all components in men and women, more than 70% of the total variation was explained by sources of variance shared between the three components, emphasising the importance of analysing the ST in a multivariate way. CONCLUSIONS: The findings suggest that the high heritabilities for mesomorphy and ectomorphy reported in earlier twin studies in adolescence are maintained in adulthood. For endomorphy, which represents a relative measure of subcutaneous adipose tissue, however, the results suggest heritability may be considerably lower than most values reported in earlier studies on adolescent twins. The heritability is also lower than values reported for, for example, body mass index (BMI), which next to the weight of organs and adipose tissue also includes muscle and bone tissue. Considering the differences in heritability between musculoskeletal robustness (mesomorphy) and subcutaneous adipose tissue (endomorphy) it may be questioned whether studying the genetics of BMI will eventually lead to a better understanding of the genetics of fatness, obesity and overweight.


Assuntos
Análise Multivariada , Somatotipos/genética , Tecido Adiposo/fisiologia , Adolescente , Adulto , Bélgica , Índice de Massa Corporal , Feminino , Humanos , Masculino , Músculo Esquelético/fisiologia , Obesidade/genética , Obesidade/fisiopatologia , Fenótipo , Caracteres Sexuais
16.
Physiol Genomics ; 22(3): 390-7, 2005 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-15914581

RESUMO

This study reports the results of a multipoint linkage study that aims to unravel the genetic basis of muscle strength and muscle mass in humans. Myostatin (GDF8) is known to be a strong inhibitor of muscle growth in animals. However, studies examining human myostatin polymorphisms are rare and are limited to the GDF8 gene itself. Here, the contribution to isometric and concentric knee strength of nine key proteins involved in the myostatin pathway is studied in a nonparametric multipoint linkage analysis by means of a variance components and regression method. A sample of 367 healthy young male siblings was phenotyped on an isokinetic dynamometer and genotyped for markers of the myostatin pathway genes. Three of the loci were found significantly linked with a quantitative trait locus (QTL) for knee muscle strength. First, D13S1303 showed replication of an explorative single-point linkage study with a maximum LOD score of 2.7 (P = 0.0002). Second, maximum LOD scores of 3.4 (P = 0.00004) and 3.3 (P = 0.00005) were observed for markers D12S1042 and D12S85, respectively, at 12q12-14. Finally, marker D12S78 showed an LOD score of 2.7 at 12q22-23. We conclude that several genes involved in the myostatin pathway, but not the myostatin gene itself, are important QTLs for human muscle strength. An additional set of valuable candidate genes that were not part of the myostatin pathway was found in the chromosome 12 and 13 genomic regions.


Assuntos
Ligação Genética , Músculos/metabolismo , Fator de Crescimento Transformador beta/genética , Adolescente , Adulto , Mapeamento Cromossômico , Marcadores Genéticos , Genótipo , Humanos , Cinética , Joelho , Escore Lod , Masculino , Repetições de Microssatélites/genética , Músculos/patologia , Fenômenos Fisiológicos Musculoesqueléticos , Miostatina , Fenótipo , Locos de Características Quantitativas , Proteína do Retinoblastoma/metabolismo , Fator de Crescimento Transformador beta/metabolismo
17.
Ann Hum Biol ; 31(4): 408-20, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15513692

RESUMO

BACKGROUND: Skeletal maturity is used to evaluate biological maturity status. Information about the association between socio-economic status (SES) and skeletal maturity is limited in Portugal. AIMS: The aim of this study is to document the skeletal maturity of youths in Madeira and to evaluate variation in maturity associated with SES. SUBJECTS AND METHODS: The study involved 507 subjects (256 boys and 251 girls) from the Madeira Growth Study, a mixed-longitudinal study of five cohorts (8, 10, 12, 14 and 16 years of age) followed at yearly intervals over 3 years (1996-1998). A total of 1493 observations were made. Skeletal age was estimated from radiographs of the hand and wrist using the Tanner-Whitehouse 2 method (TW2). Social class rankings were based on method. Five social rankings were subsequently grouped into three SES categories: high, average and low. RESULTS: Median for the radius, ulna and short finger bones (RUS scores) in the total sample of boys and girls increased curvilinearly across age whereas median for the 7 (without pisiform) carpal bones (Carpal scores) increased almost linearly. The 20-bone maturity scores demonstrated distinctive trends by gender: the medians for boys increased almost linearly while the medians for girls increased curvilinearly. SES differences were minimal. Only among children aged 10-11 years were high SES boys and girls advanced in skeletal maturity. Madeira adolescents were advanced in skeletal maturity compared with Belgian reference values. CONCLUSION: The data suggests population variation in TW2 estimates of skeletal maturation. Skeletal maturity was not related to SES in youths from Madeira.


Assuntos
Determinação da Idade pelo Esqueleto , Desenvolvimento Ósseo/fisiologia , Ossos da Extremidade Superior/diagnóstico por imagem , Adolescente , Criança , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Estudos Longitudinais , Masculino , Portugal , Valores de Referência , Caracteres Sexuais , Fatores Socioeconômicos
18.
Physiol Genomics ; 17(3): 264-70, 2004 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-15026560

RESUMO

This study was the first to explore the potential role of the myostatin (GDF8) pathway in relation to muscle strength and estimated muscle cross-sectional area in humans using linkage analysis with a candidate gene approach. In young male sibs (n = 329) 11 polymorphic markers in or near 10 candidate genes from the myostatin pathway were genotyped. Muscle mass was estimated by anthropometric measurements, and maximal knee strength was evaluated using isokinetic dynamometers (Cybex NORM). Single-point nonparametric variance components and linear quantitative trait locus regression linkage analysis methods were used. Linkage patterns were observed between knee extension and flexion peak torque with markers D2S118 (GDF8), D6S1051 (CDKN1A), and D11S4138 (MYOD1), and a maximum LOD score of 2.63 (P = 0.0002) was observed with D2S118. The ratios of peak torque over muscle and bone area of the midthigh of the lower contraction velocity (60 degrees/s) showed more frequently significant LOD scores than the torques at high velocity (240 degrees/s). Although myostatin is physiologically more related to muscle mass through possible effects of hyperplasia and hypertrophy than it is to strength, only two estimated muscle cross-sectional areas were marginally linked (LOD 1.06 and 1.07, P = 0.01) with marker D2S118 near GDF8 (2q32.2). The present results gave suggestive evidence that the myostatin pathway might be important for strength phenotypes, and GDF8, CDKN1A, and MYOD1 are potential candidate regions for a further and denser mapping with respect to these phenotypes.


Assuntos
Joelho , Músculo Esquelético/fisiologia , Locos de Características Quantitativas , Fator de Crescimento Transformador beta/genética , Adolescente , Adulto , Teste de Esforço , Ligação Genética , Humanos , Masculino , Modelos Biológicos , Músculo Esquelético/anatomia & histologia , Miostatina , Transdução de Sinais , Fator de Crescimento Transformador beta/fisiologia
19.
Ann Hum Biol ; 30(4): 402-18, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12881140

RESUMO

BACKGROUND: Several studies with different designs have attempted to estimate the heritability of somatotype components. However they often ignore the covariation between the three components as well as possible sex and age effects. Shared environmental factors are not always controlled for. AIM: This study explores the pattern of genetic and environmental determination of the variation in Heath-Carter somatotype components from early adolescence into young adulthood. SUBJECTS AND METHODS: Data from the Leuven Longitudinal Twin Study, a longitudinal sample of Belgian same-aged twins followed from 10 to 18 years (n = 105 pairs, equally divided over five zygosity groups), is entered into a multivariate path analysis. Thus the covariation between the somatotype components is taken into account, gender heterogeneity can be tested, common environmental influences can be distinguished from genetic effects and age effects are controlled for. RESULTS: Heritability estimates from 10 to 18 years range from 0.21 to 0.88, 0.46 to 0.76 and 0.16 to 0.73 for endomorphy, mesomorphy and ectomorphy in boys. In girls, heritability estimates range from 0.76 to 0.89, 0.36 to 0.57 and 0.57 to 0.76 for the respective somatotype components. Sex differences are significant from 14 years onwards. More than half of the variance in all somatotype components for both sexes at all time points is explained by factors the three components have in common. CONCLUSIONS: The finding of substantial genetic influence on the variability of somatotype components is further supported. The need to consider somatotype as a whole is stressed as well as the need for sex- and perhaps age-specific analyses. Further multivariate analyses are needed to confirm the present findings.


Assuntos
Variação Genética , Modelos Genéticos , Somatotipos/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adolescente , Criança , Feminino , Humanos , Estudos Longitudinais , Masculino , Análise Multivariada , Caracteres Sexuais
20.
Ann Hum Biol ; 30(2): 148-59, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12637191

RESUMO

BACKGROUND: Within the context of the effects of training for sports on growth and maturation, there is very little menarcheal data for elite rowing athletes. Knowledge of the relationship of the maturational status with training level, different boat categories, and somatic features of the athletes will clarify the assumed impact of rowing training on the growth and maturational process of youngsters. AIM: The aim of this study was to determine the age at menarche in world top junior rowing athletes and to investigate its relationship with anthropometric characteristics, and competition level, rowing style and boat category. SUBJECTS AND METHODS: The sample consisted of 212 female junior rowers, with a mean chronological age of 17.6 +/- 0.8 years, all participants at the 1997 FISA World Junior Rowing Championships. Anthropometric dimensions, somatotype and body composition characteristics were measured, and age at menarche and training data were retrospectively obtained by questionnaires. RESULTS: Results revealed that the mean age at menarche of the total group of rowers was 12.8 +/- 1.2 years and did not differ from a non-athletic reference population. Rowers who started their rowing training before menarche (n = 78) showed a significant (p

Assuntos
Composição Corporal/fisiologia , Constituição Corporal/fisiologia , Menarca/fisiologia , Educação Física e Treinamento , Esportes/fisiologia , Adolescente , Estudos de Casos e Controles , Feminino , Humanos , Estudos Retrospectivos , Inquéritos e Questionários
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