A polymorphism in the growth hormone-releasing hormone receptor gene: clinical significance?

Eric F. Adams, Eftychia Oikonomou, Mandeep Bhamrah, Michael Buchfelder, Rosalind Mitchell, David R. Poyner

Research output: Contribution to journalArticle

Abstract

Two forms of the growth hormone-releasing hormone (GHRH) receptor (GHRH-R) exist in terms of a polymorphism at codon 57. The most common allele possesses GCG, coding for Ala. This codon can also be ACG, replacing the Ala with Thr. The present study demonstrates that the latter occurs in about 20% of pituitary somatotrophinomas, removed from patients with acromegaly. Somatotrophinomas possessing the alternative allele respond, on average, more strongly to GHRH in terms of GH secretion in vitro than tumors which are homozygous for the more common allele. The distribution of the two allelic forms of the GHRH-R did not significantly differ between acromegalic and non-acromegalic subjects. Thus, while the alternative allelic forms may, at least partially, contribute to the variable response of serum GH levels to i.v. GHRH observed in acromegalic and normal subjects, it is unlikely that subjects possessing the rarer form containing Thr in place of Ala at residue 57 are at increased risk of developing acromegaly. © 2002 Elsevier Science B.V. All rights reserved.

Original languageEnglish
Pages (from-to)125-128
Number of pages4
JournalRegulatory peptides
Volume108
Issue number2-3
DOIs
Publication statusPublished - 15 Oct 2002

Bibliographical note

23rd Winter Neuropeptide Conference, Breckenridge, Colorado (US), 2-5 February 2002

Keywords

  • polymorphism
  • growth hormone-releasing hormone receptor gene
  • acromegaly

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