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  (ER 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.

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