Growth in humans, primarily longitudinal growth, is a complex process which starts at conception and proceeds through various developmental stages, mainly controlled by genetic factors and to a... Show moreGrowth in humans, primarily longitudinal growth, is a complex process which starts at conception and proceeds through various developmental stages, mainly controlled by genetic factors and to a lesser degree by environmental, psychosocial and nutritional factors. The GH-IGF-I axis is an important regulator of longitudinal growth, what is evident from the observation that genetic defects in this axis have been shown to be responsible for abnormal growth. These mutations, however, are rare and do not explain the __normal__ variation in height among people. This thesis focuses on the detection of genetic defects in the GH-IGF-I axis that may explain growth disorders. Initially the so-called __candidate gene approach__ was used, examining various genes in the GH-IGF-I axis. After that, a whole genome approach was used to identify novel genes involved in aberrant growth using whole genome microarray studies (SNP-ar rays) and next-generation sequencing. Also, for some genes genotype-phenotype correlations were established. With this we have tried to acquire more insight in the regulation of longitudinal growth Show less
