TY - JOUR T1 - Relationship between the functional exon 3 deleted growth hormone receptor polymorphism and symptomatic osteoarthritis in women JF - Annals of the Rheumatic Diseases JO - Ann Rheum Dis SP - 433 LP - 436 DO - 10.1136/annrheumdis-2012-202713 VL - 73 IS - 2 AU - K M J A Claessen AU - M Kloppenburg AU - H M Kroon AU - J Bijsterbosch AU - A M Pereira AU - J A Romijn AU - T van der Straaten AU - R G H H Nelissen AU - A Hofman AU - A G Uitterlinden AU - B J Duijnisveld AU - N Lakenberg AU - M Beekman AU - J B van Meurs AU - P E Slagboom AU - N R Biermasz AU - I Meulenbelt Y1 - 2014/02/01 UR - http://ard.bmj.com/content/73/2/433.abstract N2 - 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 r2=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. ER -