Relationship between the functional exon 3 deleted growth hormone receptor polymorphism and symptomatic osteoarthritis in women

K. M. J. A. Claessen, M. Kloppenburg, H. M. Kroon, J. Bijsterbosch, A. M. Pereira, J. A. Romijn, T. van der Straaten, R. G. H. H. Nelissen, A. Hofman, A. G. Uitterlinden, B. J. Duijnisveld, N. Lakenberg, M. Beekman, J. B. van Meurs, P. E. Slagboom, N. R. Biermasz, I. Meulenbelt

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Abstract

Background Several studies suggest a role of the growth hormone (GH)/insulin-like growth factor-1 (IGF-1) axis in the pathophysiology of primary osteoarthritis (OA). A common polymorphism of the GH receptor (exon 3 deletion, d3-GHR) is associated with increased GH/IGF-1 activity. Objective To study associations between the d3-GHR polymorphism and symptomatic OA. Methods In the GARP (Genetics, osteoARthritis and Progression) study, we compared the d3-GHR polymorphism between OA patients and controls. GARP patients were genotyped for seven single nucleotide polymorphisms encompassing the d3-GHR gene, using rs4590183 as proxy for d3-GHR (pairwise r(2)=1). Binary logistic regression models with robust SEs were performed, stratified by sex. For replication, rs4590183 was tested in three additional cohorts. Fixed-and random-effects combined analyses were performed. Results In female GARP patients with severe familial OA, d3-GHR was associated with OA (adjusted OR 1.36 (95% CI 1.01 to 1.83), p=0.043), independently of age and body mass index. Combined analysis of all studies showed suggestive evidence for association between d3-GHR and OA (OR=1.17 (95% CI 1.04 to 1.30), p=0.008). Evidence was strongest in hip OA cases, without any evidence for heterogeneity. Conclusions In women, the d3-GHR polymorphism was associated with symptomatic OA, especially at the hip site
Original languageEnglish
Pages (from-to)433-436
JournalAnnals of the rheumatic diseases
Volume73
Issue number2
DOIs
Publication statusPublished - 2014

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