Literature DB >> 26261638

Correlation between exon 3 polymorphism of growth hormone receptor gene and the responses to rhGH therapy.

Ying Wei1, Rongxiu Zheng1, Yuhui Zhou1, Jing Wang1, Pengli Bao1.   

Abstract

OBJECTIVE: To investigate the correlation between the exon 3 polymorphism of growth hormone receptor (GHR) gene and the responses to the recombinant human growth hormone (rhGH) therapy in children with short stature.
METHODS: Forty-five growth hormone deficiency (GHD) children (male: 30, female: 15, aged 10.39 ± 2.73 yrs) and twenty-five idiopathic short stature (ISS) children (male: 15, female: 10, aged 10.58 ± 2.56 yrs) admitted to our hospital were included. The polymorphism of exon 3 of GHR gene was determined using multiple PCR amplification. Treatment duration for each subject was at least 12 months. On this basis, we evaluated the correlation between treatment efficiency of rhGH therapy and GHR exon 3 polymorphism, GHD, and treatment duration.
RESULTS: Significant difference was noted in the growth velocity (GV) of GHD children with a genotype of GHRfl compared with those with a genotype of GHRd3 (9.44 ± 2.35 vs. 11.36 ± 2.49, P < 0.05). Meanwhile, the GV of ISS patients with a genotype of GHRfl were remarkably decreased compared with those with a genotype of GHRd3 (8.74 ± 2.36 vs. 11.18 ± 2.44, P < 0.05). For the children with peak GH response of less than 5 ng/ml, statistical difference was noted in the GV of children with a genotype of GHRfl compared with those with a genotype of GHRd3 (9.55 ± 2.76 vs. 10.84 ± 1.53, P < 0.05). For the patients with peak GH response to clonidine or pyridostigmine bromide of > 5 ng/ml, a satisfactory response to rhGH therapy was noted in children with a genotype of GHRd3 compared with those of GHRfl (P < 0.05).
CONCLUSIONS: GHRd3 was correlated with the response to rhGH therapy in children with short stature. For the patients with the same genotype, GHD caused no obvious effects on the final height. However, for the patients with peak GH response of > 5 ng/ml, a satisfactory response to rhGH therapy was noted in children with a genotype of GHRd3 compared with those of GHRfl (P < 0.05). A higher treatment efficiency was obtained in those received rhGH at an early age.

Entities:  

Keywords:  Recombinant human growth hormone; growth hormone deficiency; growth hormone receptor; short stature

Mesh:

Substances:

Year:  2015        PMID: 26261638      PMCID: PMC4525972     

Source DB:  PubMed          Journal:  Int J Clin Exp Pathol        ISSN: 1936-2625


  22 in total

1.  Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.

Authors:  P J Godowski; D W Leung; L R Meacham; J P Galgani; R Hellmiss; R Keret; P S Rotwein; J S Parks; Z Laron; W I Wood
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

2.  Incidence of GH deficiency - a nationwide study.

Authors:  Kirstine Stochholm; Claus H Gravholt; Torben Laursen; Jens O Jørgensen; Peter Laurberg; Marianne Andersen; Lars Ø Kristensen; Ulla Feldt-Rasmussen; Jens S Christiansen; Morten Frydenberg; Anders Green
Journal:  Eur J Endocrinol       Date:  2006-07       Impact factor: 6.664

3.  Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency.

Authors:  Alexander A L Jorge; Frederico G Marchisotti; Luciana R Montenegro; Luciani R Carvalho; Berenice B Mendonca; Ivo J P Arnhold
Journal:  J Clin Endocrinol Metab       Date:  2005-11-15       Impact factor: 5.958

4.  Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.

Authors:  J Pantel; K Machinis; M L Sobrier; P Duquesnoy; M Goossens; S Amselem
Journal:  J Biol Chem       Date:  2000-06-23       Impact factor: 5.157

Review 5.  New molecular mechanisms of GH resistance.

Authors:  Ron G Rosenfeld; Vivian Hwa
Journal:  Eur J Endocrinol       Date:  2004-08       Impact factor: 6.664

6.  The exon 3-deleted/full-length growth hormone receptor polymorphism did not influence growth response to growth hormone therapy over two years in prepubertal short children born at term with adequate weight and length for gestational age.

Authors:  A Carrascosa; L Audí; M Fernández-Cancio; C Esteban; P Andaluz; E Vilaró; M Clemente; D Yeste; M A Albisu; M Gussinyé
Journal:  J Clin Endocrinol Metab       Date:  2007-12-26       Impact factor: 5.958

Review 7.  Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism on baseline height and the growth response to recombinant human GH therapy in GH-deficient (GHD) and non-GHD children with short stature: a systematic review and meta-analysis.

Authors:  M J E Wassenaar; O M Dekkers; A M Pereira; J M Wit; J W Smit; N R Biermasz; J A Romijn
Journal:  J Clin Endocrinol Metab       Date:  2009-07-07       Impact factor: 5.958

8.  Pubertal growth and final height in hypopituitary boys: a minor role of bone age at onset of puberty.

Authors:  J P Bourguignon; M Vandeweghe; M Vanderschueren-Lodeweyckx; P Malvaux; R Wolter; M Du Caju; C Ernould
Journal:  J Clin Endocrinol Metab       Date:  1986-08       Impact factor: 5.958

Review 9.  Controversies in the definition and treatment of idiopathic short stature (ISS).

Authors:  Stefania Pedicelli; Emanuela Peschiaroli; Enrica Violi; Stefano Cianfarani
Journal:  J Clin Res Pediatr Endocrinol       Date:  2009-02-01

10.  Characteristics of children with the best and poorest first- and second-year growth during rhGH therapy: data from 25 years of the Genentech national cooperative growth study (NCGS).

Authors:  Paul B Kaplowitz; Dorothy I Shulman; James W Frane; Joan Jacobs; Barbara Lippe
Journal:  Int J Pediatr Endocrinol       Date:  2013-05-01
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  1 in total

Review 1.  Glucose Metabolism in Children With Growth Hormone Deficiency.

Authors:  Alessandro Ciresi; Carla Giordano
Journal:  Front Endocrinol (Lausanne)       Date:  2018-06-11       Impact factor: 5.555

  1 in total

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