| d3-Growth hormone receptor polymorphism in acromegaly: effects on metabolic phenotype. | |
| | |
MedLine Citation:
|
PMID: 20447065 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
OBJECTIVE: A common polymorphic variant of the growth hormone receptor (GHR) is because of genomic deletion of exon 3 and has been linked with increased responsiveness to exogenous GH. The impact of this polymorphism in acromegaly, a disease characterized by endogenous excess of GH and partial loss of IGF-I feedback on tumoural GH secretion, is not clear. The aim of this study was to investigate possible influences of d3GHR on the GH/IGF-I relationship and metabolic parameters in acromegaly. DESIGN AND METHODS: Retrospective study on 76 acromegalic patients. Genotype analysis was carried out on leucocyte DNA by multiplex PCR assay. Clinical, hormonal and biochemical parameters at diagnosis were collected from patients' medical records. RESULTS: Forty-two patients (55.3%) were homozygotes for the allele encoding the full-length GHR (fl/flGHR), 27 patients were heterozygotes (fl/d3) and seven homozygotes (d3/d3) for the genomic deletion of exon 3. Heterozygotes and homozygotes for the d3 allele were considered together (d3GHR) and compared with fl/flGHR patients. d3GHR and fl/flGHR patients showed no difference in GH and IGF-I levels or in the relationship between these two parameters. Patients bearing d3GHR had a lower body mass index (BMI) than patients bearing fl/flGHR (25.8 +/- 2.1 vs. 28.1 +/- 4.8 kg/m(2), P < 0.05). Diabetes mellitus and hypertension were equally distributed, but more d3GHR patients had a normal glucose tolerance (66.7%vs. 56.3%, P < 0.05). The presence of d3GHR allele, and not BMI or age, was a significant negative predictor of insulin levels 120 min after oral glucose load (beta = -80.8, P < 0.05). CONCLUSIONS: This study supports the hypothesis that the d3GHR is functionally different from the fl/fl variant mostly for the effects on body weight regulation and on glucose metabolism. |
| | |
Authors:
|
Laura Montefusco; Marcello Filopanti; Cristina L Ronchi; Luca Olgiati; Carmen La-Porta; Marco Losa; Paolo Epaminonda; Francesca Coletti; Paolo Beck-Peccoz; Anna Spada; Andrea G Lania; Maura Arosio |
Related Documents
:
|
1742885 - Long-term follow-up of hypothalamic-pituitary function in patients with transsphenoidal... 3090985 - Endocrine studies in patients with pseudotumor cerebri. estrogen levels in blood and ce... 9666875 - The low-dose dexamethasone suppression test in patients with adrenal incidentalomas: co... 1851185 - Abnormal pituitary-adrenal responses to corticotropin-releasing hormone in patients wit... 17426205 - Diagnostic usefulness of fluorine-18-alpha-methyltyrosine positron emission tomography ... 9659175 - Tranexamic acid for severe bleeding gastric antral vascular ectasia in cirrhosis. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Clinical endocrinology Volume: 72 ISSN: 1365-2265 ISO Abbreviation: Clin. Endocrinol. (Oxf) Publication Date: 2010 May |
Date Detail:
|
Created Date: 2010-05-07 Completed Date: 2010-08-10 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0346653 Medline TA: Clin Endocrinol (Oxf) Country: England |
Other Details:
|
Languages: eng Pagination: 661-7 Citation Subset: IM |
Affiliation:
|
Unit of Endocrinology, Ospedale San Giuseppe, Milan. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acromegaly
/
genetics*,
metabolism Adult Body Mass Index Body Weight Exons / genetics Female Gene Deletion* Gene Frequency Genotype Glucose Tolerance Test Human Growth Hormone / metabolism, secretion Humans Insulin-Like Growth Factor I / metabolism Linear Models Male Middle Aged Phenotype Polymorphism, Genetic* Receptors, Somatotropin / genetics* Retrospective Studies |
| Chemical | |
Reg. No./Substance:
|
0/Receptors, Somatotropin; 12629-01-5/Human Growth Hormone; 67763-96-6/Insulin-Like Growth Factor I |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Concurrent occurrence of medullary thyroid carcinoma and papillary thyroid carcinoma in the same thy...
Next Document: Natural history of subclinical hyperthyroidism in elderly patients with TSH between 0.1 and 0.4 mIU/...