Searchable abstracts of presentations at key conferences in endocrinology

ea0007p137 | Growth and development | BES2004

Frequency of single nucleotide polymorphisms in the GHRH receptor gene in short children

Smith K , Gueorguiev M , Adams E , Mein C , Johnston L , Bonner S , Froguel P , Savage M , Grossman A , Korbonits M

A number of single nucleotide polymorphisms (SNPs) have been identified in the GHRH receptor gene. Two of these SNPs, A57T and V225I, have been found to cause an increased cAMP response to GHRH stimulation in vitro, and it has been suggested that they may be associated with the abnormal biochemistry in patients with somatotroph adenomas. The objective of this study was to clarify the frequencies of these SNPs in the normal population and in subjects with short stature. The sub...