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Common Variations in Endocrine Genes in Relation to Growth and Body Composition: Studies in childhood and adolescence
Growth and changes in body composition during childhood and adolescence
are regulated and influenced by multiple factors. Among the well-known
important hormonal systems are the growth hormone – insulin-like growth
factor I (IGF-1) axis, sex steroids and glucocorticoids. Environmental
factors like a safe environment, the absence of disease and sufficient
nutritional intake are equally important. Another important factor
associated with postnatal growth and body composition is size at birth.
The non-environmental factors are more or less inheritable. Variation in
genetic background among individuals determines to a large extent
phenotypic outcome. Genetic polymorphisms are assumed to play an important
role in gene expression and explaining heritability.
This thesis describes common variations, polymorphisms, in several
endocrine genes in relation to growth and body composition. The studies
focus on polymorphisms in the IGF-1 gene, the glucocorticoid receptor (GR)
gene, the estrogen receptor ï¡ (ERï¡ or ESR1) gene and the androgen
receptor (AR) gene. Most studies were performed in two large cohorts of
healthy children and adolescents, who grew up in the same area of the
Netherlands, but were born with an interval of approximately 20 years. One
study also describes the results of a study in a group of children born
small for gestational age (SGA) without catch up growth