Document Detail

d3-Growth hormone receptor polymorphism in acromegaly: effects on metabolic phenotype.
MedLine Citation:
PMID:  20447065     Owner:  NLM     Status:  MEDLINE    
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.
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
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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    
Unit of Endocrinology, Ospedale San Giuseppe, Milan.
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MeSH Terms
Acromegaly / genetics*,  metabolism
Body Mass Index
Body Weight
Exons / genetics
Gene Deletion*
Gene Frequency
Glucose Tolerance Test
Human Growth Hormone / metabolism,  secretion
Insulin-Like Growth Factor I / metabolism
Linear Models
Middle Aged
Polymorphism, Genetic*
Receptors, Somatotropin / genetics*
Retrospective Studies
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

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