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Genetics of somatotype and physical fitness in children and adolescents
Publication . Silventoinen, Karri; Maia, José; Jelenkovic, Aline; Pereira, Sara; Gouveia, Élvio; Antunes, António; Thomis, Martine; Lefevre, Johan; Kaprio, Jaakko; Freitas, Duarte
Objectives: To analyze the influence of genetic and environmental factors on
the variation in somatotype, physical fitness, and their mutual associations.
Methods: Twins from 214 pairs (87 monozygotic) of the Autonomous Region
of Madeira, Portugal, from 3 to 18 years of age (51% girls) were assessed in
anthropometry and physical fitness tests. We estimated endomorphy, meso morphy, and ectomorphy based on anthropometric measures and physical fit ness using the Eurofit test battery. Two age categories were analyzed: children
(3-11 years) and adolescents (12-18 years). Genetic and environmental varia tions were estimated using quantitative genetic twin modeling.
Results: No genetic sex differences were found, thus boys and girls were
pooled in all genetic analyses. Heritability estimates were high for somatotype
(a2 = 0.80-0.93), physical fitness traits (a2 = 0.67-0.83), and largely similar in
children and adolescents. Positive correlations were found for ectomorphy with
motor ability and cardiorespiratory endurance as well as for endomorphy and
mesomorphy with muscular strength (r = 0.25-0.37). In contrast, negative asso ciations were found for ectomorphy with muscular strength, as well as for
endomorphy and mesomorphy with motor ability and cardiorespiratory endurance (−0.46 to −0.26). Twin modeling indicated that these associations
were explained mostly by genetic factors in common to the two associated
traits (84% or more).
Conclusions: Associations between somatotype and physical fitness tests are
mainly explained by common genetic background in children and adolescents.
Therefore, interventions in youth should consider that a child's performance in
physical fitness tests partly reflects their inherited physique.
The genetic background of metabolic trait clusters in children and adolescents
Publication . Silventoinen, Karri; Gouveia, Élvio; Jelenkovic, Aline; Maia, José; Antunes, António M.; Carvalho, Miguel Â. A. Pinheiro de; Brehm, António M.; Thomis, Martine; Lefevre, Johan; Kaprio, Jaakko; Freitas, Duarte
Background: It is well known that the metabolic risk factors of cardiovascular diseases are
correlated, but the background of this clustering in children is more poorly known than in adults.
Thus, we studied the contribution of genetic and environmental factors to the clustering of
metabolic traits in childhood and adolescence.
Methods: Nine metabolic traits were measured in 214 complete twin pairs aged 3 to 18 years in the
Autonomous Region of Madeira, Portugal, in 2007 and 2008. The variation of and covariations
between the traits were decomposed into genetic and environmental components by using classical
genetic twin modeling. Results: A model including additive genetic and environmental factors unique for each twin
individual explained the variation of the metabolic factors well. Under this model, the heritability
estimates varied from 0.47 (systolic blood pressure in children under 12 years of age) to 0.91 (HDL
cholesterol in adolescents 12 years of age or older). The most systematic correlations were found
between adiposity (body mass index and waist circumference) and blood lipids (HDL cholesterol,
LDL cholesterol and triglycerides), as well as blood pressure. These correlations were mainly
explained by common genetic factors.
Conclusions: Our results suggest that obesity, in particular, is behind the clustering of metabolic
factors in children and adolescents. Both general and abdominal obesity partly share the same
genetic background as blood lipids and blood pressure. Obesity prevention already in childhood is
important in reducing the risk of metabolic diseases in adulthood.
Genetic regulation of body size and morphology in children: a twin study of 22 anthropometric traits
Publication . Silventoinen, Karri; Maia, José; Li, Weilong; Sund, Reijo; Gouveia, Élvio R.; Antunes, António; Marques, Gonçalo; Thomis, Martine; Jelenkovic, Aline; Kaprio, Jaakko; Freitas, Duarte Luís de
Anthropometric measures show high heritability, and genetic correlations have been found between obesity related traits. However, we lack a comprehensive analysis of the genetic background of human body morphology using detailed
anthropometric measures.
METHODS: Height, weight, 7 skinfold thicknesses, 7 body circumferences and 4 body diameters (skeletal breaths) were measured
in 214 pairs of twin children aged 3–18 years (87 monozygotic pairs) in the Autonomous Region of Madeira, Portugal. Factor
analysis (Varimax rotation) was used to analyze the underlying structure of body physique. Genetic twin modeling was used to
estimate genetic and environmental contributions to the variation and co-variation of the anthropometric traits.
RESULTS: Together, two factors explained 80% of the variation of all 22 anthropometric traits in boys and 73% in girls. Obesity
measures (body mass index, skinfold thickness measures, as well as waist and hip circumferences) and limb circumferences loaded
most strongly on the first factor, whereas height and body diameters loaded especially on the second factor. These factors as well
as all anthropometric measures showed high heritability (80% or more for most of the traits), whereas the rest of the variation was
explained by environmental factors not shared by co-twins. Obesity measures showed high genetic correlations (0.75–0.98). Height
showed the highest genetic correlations with body diameter measures (0.58–0.76). Correlations between environmental factors not
shared by co-twins were weaker than the genetic correlations but still substantial. The correlation patterns were roughly similar in
boys and girls.
CONCLUSIONS: Our results show high genetic correlations underlying the human body physique, suggesting that there are sets of
genes widely affecting anthropometric traits. Better knowledge of these genetic variants can help to understand the development
of obesity and other features of the human physique.
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Funding agency
Fundação para a Ciência e a Tecnologia
Funding programme
POCI
Funding Award Number
POCI/DES/56834/2004