D3-Growth hormone receptor polymorphism in acromegaly: Effects on metabolic phenotype

Clinical Endocrinology

Volumn 72, Issue 5, 2010, Pages 661-667

  Montefusco, Laura ^a   Filopanti, Marcello ^b,c   Ronchi, Cristina L ^b,c   Olgiati, Luca ^c   La Porta, Carmen ^c   Losa, Marco ^d   Epaminonda, Paolo ^a,b   Coletti, Francesca ^a,b   Beck Peccoz, Paolo ^b,c   Spada, Anna ^b,c   Lania, Andrea G ^b,c   Arosio, Maura ^a,b  

^a San Giuseppe Hospital   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLUCOSE; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; SOMATOMEDIN C RECEPTOR;

ACROMEGALY; ADULT; AGE DISTRIBUTION; ARTICLE; BODY MASS; CONTROLLED STUDY; DIABETES MELLITUS; EXON; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GLUCOSE TOLERANCE; GROWTH HORMONE BLOOD LEVEL; HUMAN; HYPERTENSION; INSULIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; ORAL GLUCOSE TOLERANCE TEST; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL;

ACROMEGALY; ADULT; BODY MASS INDEX; BODY WEIGHT; EXONS; FEMALE; GENE DELETION; GENE FREQUENCY; GENOTYPE; GLUCOSE TOLERANCE TEST; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; LINEAR MODELS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; RECEPTORS, SOMATOTROPIN; RETROSPECTIVE STUDIES;

EID: 77950269478     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2009.03703.x     Document Type: Article

References (30)

1. Pantel, J., Machinis, K., Sobrier, M.L. et al. (2000) Specie-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retro-elements during primate evolution. Journal of Biological Chemistry, 275, 18664 18669.
2. Strawbridge, R.J., Karvestedt, L., Li, C. et al. (2007) GHR exon polymorphism: association type 2 diabetes mellitus and metabolic disorder. Growth Hormone and IGF-I Research, 17, 392 398.
3. Kenth, G., Shao, Z., Cole, D.E.C. et al. (2007) Relationship of the human growth hormone receptor exon 3 genotype with final adult height and bone mineral density. Journal of Clinical Endocrinology and Metabolism, 92, 725 728.
4. Dos Santos, C., Essioux, L., Teinturier, C. et al. (2004) A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nature Genetics, 36, 720 724.
5. Urbanek, M., Russell, J.E., Cooke, N.E. et al. (1993) Functional characterization of the alternatively spliced, placental human growth hormone receptor. Journal of Biological Chemistry, 268, 19025 19032.
6. Sobrier, M.L., Duquesnoy, P., Duriez, B. et al. (1993) Expression and binding properties of two isoforms of the human growth hormone receptor. FEBS Letters, 319, 16 20.
7. Jorge, A.A., Marchisotti, F.G., Montenegro, L.R. et al. (2006) 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. Journal of Clinical Endocrinology and Metabolism, 91, 1076 1080.
8. Binder, G., Baur, F., Schweizer, R. et al. (2006) The d3-growth hormone (GH) receptor polymorphism is associated with increased responsiveness to GH in Turner syndrome and short small-for-gestational-age children. Journal of Clinical Endocrinology and Metabolism, 91, 659 664.
9. Pilotta, A., Mella, P., Filisetti, M. et al. (2006) Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children. Journal of Clinical Endocrinology and Metabolism, 91, 1178 1180.
10. Carrascosa, A., Esteban, C., Espadero, R. et al. (2006) The d3/fl-growth hormone (GH) receptor polymorphism does not influence the effect of GH treatment (66g/kg per day) or the spontaneous growth in short non-GH-deficient small-for-gestational-age children: results from a two-year controlled prospective study in 170 Spanish patients. Journal of Clinical Endocrinology and Metabolism, 91, 3281 3286.
11. Blum, W.F., Machinis, K., Shavrikova, E.P. et al. (2006) The growth response to growth hormone (GH) treatment in children with isolated GH deficiency is independent of the presence of the exon 3-minus isoform of the GH receptor. Journal of Clinical Endocrinology and Metabolism, 91, 4171 4174.
12. Carrascosa, A., Audì, L., Fernàndez-Cancio, M. et al. (2008) 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. Journal of Clinical Endocrinology and Metabolism, 93, 764 770.
13. de Graaff, L.C.G., Meyer, S., Els, C. et al. (2008) GH receptor d3 polymorphism in Dutch patients with MPHD and IGD born small for gestational age. Clinical Endocrinology, 68, 930 934.
14. Raz, B., Janner, M., Petrovik, V. et al. (2008) Influence of growth hormone receptor d3 and full-lenght isoforms on growth hormone response and final height in patients with severe growth hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 93, 974 980.
15. Schreiner, F., Stutte, S., Bartmann, P. et al. (2007) Association of the growth hormone receptor d3-variant and catch-up growth of preterm infants with birth weight of less than 1500 grams. Journal of Clinical Endocrinology and Metabolism, 92, 4489 4493.
16. Audì, L., Esteban, C., Carrascosa, A. et al. (2006) Exon 3-deleted/full-length growth hormone receptor polymorphism genotype frequencies in Spanish short small-for-gestational age (SGA) children and adolescents (n = 247) and in adult control population (n = 289) show increased fl/fl in short SGA. Journal of Clinical Endocrinology and Metabolism, 91, 5038 5043.
17. van der Klaauw, A., van der Straaten, T., Baak-Pablo, R. et al. (2007) Influence of the d3-growth hormone (GH) receptor isoform on short-term and long-term treatment response to GH replacement in GH-deficient adults. Journal of Clinical Endocrinology and Metabolism, 92, 4489 4493.
18. Horan, M., Newsway, V., Mark, D. et al. (2006) Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke. Human Genetics, 119, 527 540.
19. Jaffe, C.A., Pan, W., Brown, M.B. et al. (2001) Regulation of GH secretion in acromegaly: reproducibility of daily GH profiles and attenuated negative feedback by IGF-I. Journal of Clinical Endocrinology and Metabolism, 86, 4364 4370.
20. Schmid, C., Kreyenbuehl, P.A., Bernays, R.L. et al. (2007) Growth hormone (GH) receptor isoforms in acromegaly: lower GH concentration of GH but not Insuline-like growth factor I in patients with a genomic deletion of exon 3 in the GH-receptor gene. Clinical Chemistry, 53, 1484 1488.
21. Mercado, M., Gonzales, B., Sandoval, C. et al. (2008) Clinical and biochemical impact of the d3(fl) Growth Hormone Receptor genotype in acromegaly. Journal of Clinical Endocrinology and Metabolism, 93, 3411 3415.
22. Alberti, K.G.M.M. Zimmet, P.Z. (1998) Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus. Provisional report of a WHO consultation. Diabetic Medicine, 15, 539 553.
23. Matthews, D.R., Hosker, J.P., Rudenski, A.S. et al. (1985) Homeostasis model assessment: insulin resistance and β-cell function from fasting plasma glucose and insulin concentration in man. Diabetologia, 28, 412 419.
24. Matsuda, M. DeFronzo, R.A. (1999) Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp. Diabetes Care, 22, 1462 1470.
25. Epaminonda, P., Porretti, S., Cappiello, V. et al. (2001) Efficacy of radiotherapy in normalizing serum IGF-I, acid-labile subunit (ALS) and IGFBP-3 levels in acromegaly. Clinical Endocrinology, 55, 183 189.
26. Bianchi, A., Giustina, A., Cimino, V. et al. (2009) Influence of growth hormone receptor d3 and full length isoforms on biochemical treatment outcomes in acromegaly. Journal of Clinical Endocrinology and Metabolism, 94, 2015 2022.
27. Toyoshima, M.T.K., Castroneves, L.A., Costalonga, E.F. et al. (2007) Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-I increase at generation test in children with idiopathic short stature. Clinical Endocrinology, 67, 500 504.
28. Dominici, F.P., Argentino, M.C., Munoz, M.C. et al. (2005) Influence of the crosstalk between growth hormone and insulin signalling on the modulation of insulin sensitivity. Growth Hormone and IGF Research, 15, 324 336.
29. Tauber, M., Ester, W., Auriol, F. et al. (2007) GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to exon 3 GHR polymorphism. Clinical Endocrinology, 67, 457 461.
30. Jensen, B.R., Vielwerth, S., Larsen, T. et al. (2007) The presence of the d3-growth hormone receptor polymorphism is negatively associated with fetal growth but positively associated with postnatal growth in healthy subjects. Journal of Clinical Endocrinology and Metabolism, 92, 2758 2763.