TY - JOUR
T1 - A polymorphism in the growth hormone-releasing hormone receptor gene: clinical significance?
AU - Adams, Eric F.
AU - Oikonomou, Eftychia
AU - Bhamrah, Mandeep
AU - Buchfelder, Michael
AU - Mitchell, Rosalind
AU - Poyner, David R.
N1 - 23rd Winter Neuropeptide Conference, Breckenridge, Colorado (US), 2-5 February 2002
PY - 2002/10/15
Y1 - 2002/10/15
N2 - 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.
AB - 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.
KW - polymorphism
KW - growth hormone-releasing hormone receptor gene
KW - acromegaly
UR - http://www.scopus.com/inward/record.url?scp=0037107397&partnerID=8YFLogxK
UR - https://www.sciencedirect.com/science/article/pii/S0167011502001015?via%3Dihub
U2 - 10.1016/S0167-0115(02)00101-5
DO - 10.1016/S0167-0115(02)00101-5
M3 - Article
C2 - 12220735
SN - 0167-0115
VL - 108
SP - 125
EP - 128
JO - Regulatory peptides
JF - Regulatory peptides
IS - 2-3
ER -