Literature DB >> 25552351

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.

Raquel S Jallad1, Ericka B Trarbach, Felipe H Duarte, Alexander A L Jorge, Marcello D Bronstein.   

Abstract

BACKGROUND: The association of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms with clinical presentation, biochemical measurements and response to therapies in acromegaly have been suggested.
OBJECTIVE: To evaluate the presence of these polymorphisms in acromegaly and their influence on clinical and laboratorial characteristics of patients at diagnosis and after treatment in a large cohort of acromegalic patients. PATIENTS AND METHODS: This is a cross-sectional study developed in a single tertiary reference center. Clinical data were obtained from the medical records of 186 acromegalic patients (116 women, age range 21-88 years). GH and IGF1 levels and GHR-exon 3 and -202 A/C IGFBP3 polymorphisms were evaluated in the same hospital.
RESULTS: At diagnosis, serum GH concentrations were lower in patients with GHR-d3 genotype than those with GHR-fl, whereas an association of lower IGFBP3 levels with d3 allele was observed only after neurosurgical or medical treatments. However, these associations were not confirmed in posterior statistical analysis.
CONCLUSION: Our results suggest that GHR-exon 3 and -202 A/C IGFBP3 polymorphisms did not show any consistent association on clinical and laboratorial features of acromegalic patients even after treatment.

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Year:  2015        PMID: 25552351     DOI: 10.1007/s11102-014-0629-y

Source DB:  PubMed          Journal:  Pituitary        ISSN: 1386-341X            Impact factor:   4.107


  30 in total

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Authors:  Antonio Bianchi; Gherardo Mazziotti; Laura Tilaro; Vincenzo Cimino; Flora Veltri; Eleonora Gaetani; Giovanni Pecorini; Alfredo Pontecorvi; Andrea Giustina; Laura De Marinis
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7.  Expression and binding properties of two isoforms of the human growth hormone receptor.

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8.  Clinical and biochemical impact of the d3 growth hormone receptor genotype in acromegaly.

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9.  D3 GH receptor polymorphism is not associated with IGF1 levels in untreated acromegaly.

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  7 in total

1.  SOCS2 polymorphisms are not associated with clinical and biochemical phenotypes in acromegalic patients.

Authors:  Ericka B Trarbach; Alexander A Jorge; Felipe H Duarte; Marcello D Bronstein; Raquel S Jallad
Journal:  Pituitary       Date:  2017-06       Impact factor: 4.107

2.  Exon 3-deleted growth hormone receptor isoform is not related to worse bone mineral density or microarchitecture or to increased fracture risk in acromegaly.

Authors:  J Pontes; M Madeira; C H A Lima; L L Ogino; F de Paula Paranhos Neto; L M C de Mendonça; M L F Farias; L Kasuki; M R Gadelha
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3.  Growth hormone receptor exon 3 isoforms may have no importance in the clinical setting of multiethnic Brazilian acromegaly patients.

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Review 4.  Clinical importance of achieving biochemical control with medical therapy in adult patients with acromegaly.

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Review 6.  Pegvisomant in acromegaly: an update.

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7.  Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene.

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