The D3 GH receptor polymorphism is associated with osteoarthritis, especially of the hip, in patients with long-term cured acromegaly

Moniek JE Wassenaar; Nienke R Biermasz; der Klaauw Agatha A van; Johannes WA Smit; Alberto M Pereira; Ferdinand Roelfsema; der Straaten Tahar van; Herman M Kroon; Margreet Kloppenburg; HJ Guchelaar; Johannes A Romijn

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Endocrine Abstracts (2009) 20 P552

ECE2009 Poster Presentations Neuroendocrinology, Pituitary and Behaviour (74 abstracts)

The D3 GH receptor polymorphism is associated with osteoarthritis, especially of the hip, in patients with long-term cured acromegaly

Moniek JE Wassenaar , Nienke R Biermasz , Agatha A van der Klaauw , Johannes WA Smit , Alberto M Pereira , Ferdinand Roelfsema , Tahar van der Straaten , Herman M Kroon , Margreet Kloppenburg , HJ Guchelaar & Johannes A Romijn

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Leiden University Medical Center, Leiden, The Netherlands.

Objective: To evaluate the impact of the genomic deletion of exon 3 in the growth hormone receptor (d3GHR) on co-morbidities of acromegaly in a well-characterized cohort of patients with long-term remission of acromegaly.

Design: Cross sectional study.

Methods: The presence of the d3GHR polymorphism was assessed in 86 acromegalic patients and related to clinical outcome, i.e. anthropometric parameters, osteoarthritis, and the metabolic syndrome (MS), after long-term disease control.

Results: Fifty-one patients had two wild-type alleles (59%), whereas 29 patients (34%) had one allele, and 6 patients (7%) had two alleles encoding for the d3GHR isoform. The presence of one allele of the d3GHR was associated with an increased prevalence of osteoarthritis, especially of the hip (52 vs 26%, P=0.03), and remained significant when adjusted for age, gender, BMI, and duration of active disease. Other factors representing long-term clinical outcome, i.e. cardiovascular risk factors like hypertension, high body mass index, abdominal obesity and spinal disc degeneration were not significantly different between patients with and without the d3GHR genotype.

Conclusion: The d3GHR polymorphism is associated with the development of osteoarthritis, especially of the hip, but not with other co-morbidities, in patients with long-term cured acromegaly.