Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly

Pituitary

Volumn 18, Issue 5, 2015, Pages 666-673

  Jallad, Raquel S ^a   Trarbach, Ericka B ^a   Duarte, Felipe H ^a   Jorge, Alexander A L ^a   Bronstein, Marcello D ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

202 A C IGFBP3 polymorphism; Acromegaly; GHR exon 3 genotype; Pituitary tumors

Indexed keywords

GROWTH HORMONE RECEPTOR; SOMATOMEDIN BINDING PROTEIN 3; BIOLOGICAL MARKER; CARRIER PROTEIN; HUMAN GROWTH HORMONE; IGFBP3 PROTEIN, HUMAN; SOMATOTROPIN-BINDING PROTEIN;

ACROMEGALY; ADULT; AGED; ARTHROPATHY; ARTICLE; CARDIOVASCULAR DISEASE; CARPAL TUNNEL SYNDROME; CLINICAL FEATURE; COHORT ANALYSIS; COLON POLYP; COMORBIDITY; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DIABETES MELLITUS; EXON; FEMALE; GENOTYPE; GLUCOSE INTOLERANCE; GOITER; GROWTH HORMONE BLOOD LEVEL; HUMAN; HYPERTENSION; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TERTIARY CARE CENTER; THYROID PAPILLARY CARCINOMA; TRANSSPHENOIDAL SURGERY; TREATMENT OUTCOME; BLOOD; BRAZIL; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PHENOTYPE; PREDICTIVE VALUE; VERY ELDERLY; YOUNG ADULT;

ACROMEGALY; ADULT; AGED; AGED, 80 AND OVER; BIOMARKERS; BRAZIL; CARRIER PROTEINS; CROSS-SECTIONAL STUDIES; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; PREDICTIVE VALUE OF TESTS; TERTIARY CARE CENTERS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84941182280     PISSN: 1386341X     EISSN: 15737403     Source Type: Journal    
DOI: 10.1007/s11102-014-0629-y     Document Type: Article

References (30)

1. Dobrashian RD, O’Halloran DJ, Hunt A, Beardwell CG, Shalet SM (1993) Relationships between insulin-like growth factor-1 levels and growth hormone concentrations during diurnal profiles and following oral glucose in acromegaly. Clin Endocrinol (Oxf) 38:589–593
2. Parkinson C, Ryder WD, Trainer PJ, Group SAS (2001) The relationship between serum GH and serum IGF-I in acromegaly is gender-specific. J Clin Endocrinol Metab 86:5240–5244
3. Dimaraki EV, Jaffe CA, DeMott-Friberg R, Chandler WF, Barkan AL (2002) Acromegaly with apparently normal GH secretion: implications for diagnosis and follow-up. J Clin Endocrinol Metab 87:3537–3542
4. Freda PU, Nuruzzaman AT, Reyes CM, Sundeen RE, Post KD (2004) Significance of “abnormal” nadir growth hormone levels after oral glucose in postoperative patients with acromegaly in remission with normal insulin-like growth factor-I levels. J Clin Endocrinol Metab 89:495–500
5. Mercado M, Espinosa de los Monteros AL, Sosa E et al (2004) Clinical–biochemical correlations in acromegaly at diagnosis and the real prevalence of biochemically discordant disease. Horm Res 62:293–299
6. Alexopoulou O, Bex M, Abs R, T’Sjoen G, Velkeniers B, Maiter D (2008) Divergence between growth hormone and insulin-like growth factor-i concentrations in the follow-up of acromegaly. J Clin Endocrinol Metab 93:1324–1330
7. Machado EO, Taboada GF, Neto LV et al (2008) Prevalence of discordant GH and IGF-I levels in acromegalics at diagnosis, after surgical treatment and during treatment with octreotide LAR. Growth Horm IGF Res 18:389–393
8. Ho PJ, Jaffe CA, Friberg RD, Chandler WF, Barkan AL (1994) Persistence of rapid growth hormone (GH) pulsatility after successful removal of GH-producing pituitary tumors. J Clin Endocrinol Metab 78:1403–1410
9. Walenkamp MJ, Wit JM (2006) Genetic disorders in the growth hormone—insulin-like growth factor-I axis. Horm Res 66:221–230
10. Pantel J, Machinis K, Sobrier ML, Duquesnoy P, Goossens M, Amselem S (2000) Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J Biol Chem 275:18664–18669
11. Buzi F, Mella P, Pilotta A, Prandi E, Lanfranchi F, Carapella T (2007) Growth hormone receptor polymorphisms. Endocr Dev 11:28–35
12. Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougnères P (2004) A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat Genet 36:720–724
13. Sobrier ML, Duquesnoy P, Duriez B, Amselem S, Goossens M (1993) Expression and binding properties of two isoforms of the human growth hormone receptor. FEBS Lett 319:16–20
14. Urbanek M, Russell JE, Cooke NE, Liebhaber SA (1993) Functional characterization of the alternatively spliced, placental human growth hormone receptor. J Biol Chem 268:19025–19032
15. Bass SH, Mulkerrin MG, Wells JA (1991) A systematic mutational analysis of hormone-binding determinants in the human growth hormone receptor. Proc Natl Acad Sci USA 88:4498–4502
16. Schmid C, Krayenbuehl PA, Bernays RL, Zwimpfer C, Maly FE, Wiesli P (2007) Growth hormone (GH) receptor isoform in acromegaly: lower concentrations of GH but not insulin-like growth factor-1 in patients with a genomic deletion of exon 3 in the GH receptor gene. Clin Chem 53:1484–1488
17. Mercado M, González B, Sandoval C et al (2008) Clinical and biochemical impact of the d3 growth hormone receptor genotype in acromegaly. J Clin Endocrinol Metab 93:3411–3415
18. Costalonga EF, Antonini SR, Guerra-Junior G, Mendonca BB, Arnhold IJ, Jorge AA (2009) The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency. J Clin Endocrinol Metab 94:588–595
19. van der Kaay DC, Hendriks AE, Ester WA et al (2009) Genetic and epigenetic variability in the gene for IGFBP-3 (IGFBP3): correlation with serum IGFBP-3 levels and growth in short children born small for gestational age. Growth Horm IGF Res 19:198–205
20. Jernström H, Deal C, Wilkin F et al (2001) Genetic and nongenetic factors associated with variation of plasma levels of insulin-like growth factor-I and insulin-like growth factor-binding protein-3 in healthy premenopausal women. Cancer Epidemiol Biomarkers Prev 10:377–384
21. Deal C, Ma J, Wilkin F et al (2001) Novel promoter polymorphism in insulin-like growth factor-binding protein-3: correlation with serum levels and interaction with known regulators. J Clin Endocrinol Metab 86:1274–1280
22. 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. J Clin Endocrinol Metab 94:2015–2022
23. Bianchi A, Mazziotti G, Tilaro L et al (2009) Growth hormone receptor polymorphism and the effects of pegvisomant in acromegaly. Pituitary 12:196–199
24. Kamenicky P, Dos Santos C, Espinosa C et al (2009) D3 GH receptor polymorphism is not associated with IGF1 levels in untreated acromegaly. Eur J Endocrinol 161:231–235
25. Montefusco L, Filopanti M, Ronchi CL et al (2010) d3-Growth hormone receptor polymorphism in acromegaly: effects on metabolic phenotype. Clin Endocrinol (Oxf) 72:661–667
26. Bernabeu I, Alvarez-Escolá C, Quinteiro C et al (2010) The exon 3-deleted growth hormone receptor is associated with better response to pegvisomant therapy in acromegaly. J Clin Endocrinol Metab 95:222–229
27. Filopanti M, Olgiati L, Mantovani G et al (2012) Growth hormone receptor variants and response to pegvisomant in monotherapy or in combination with somatostatin analogs in acromegalic patients: a multicenter study. J Clin Endocrinol Metab 97:E165–E172
28. Wassenaar MJ, Biermasz NR, Pereira AM et al (2009) The exon-3 deleted growth hormone receptor polymorphism predisposes to long-term complications of acromegaly. J Clin Endocrinol Metab 94:4671–4678
29. Turgut S, Akın F, Ayada C, Topsakal S, Yerlikaya E, Turgut G (2012) The growth hormone receptor polymorphism in patients with acromegaly: relationship to BMI and glucose metabolism. Pituitary 15:374–379
30. Akin F, Turgut S, Cirak B, Kursunluoglu R (2010) IGF(CA)19 and IGFBP-3-202A/C gene polymorphism in patients with acromegaly. Growth Horm IGF Res 20:399–403