A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium. Issue 9 (8th June 2009)

• Record Type: Journal Article
• Authors: Zhai, G; van Meurs, J B J; Livshits, G; Meulenbelt, I; Valdes, A M; Soranzo, N; Hart, D; Zhang, F; Kato, B S; Richards, J B; Williams, F M K; Inouye, M; Kloppenburg, M; Deloukas, P; Slagboom, E; Uitterlinden, A; Spector, T D
• Is Part Of: Journal of medical genetics. Volume 46:Issue 9(2009)
• Page Start: 614
• Page End: 616
• Publication Date: 2009-06-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2009.067314
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : To identify the susceptibility gene in hand osteoarthritis (OA) the authors used a two-stage approach genome-wide association study using two discovery samples (the TwinsUK cohort and the Rotterdam discovery subset; a total of 1804 subjects) and four replication samples (the Chingford Study, the Chuvasha Skeletal Aging Study, the Rotterdam replication subset and the Genetics, Arthrosis, and Progression (GARP) Study; a total of 3266 people). Five single-nucleotide polymorphisms (SNPs) had a likelihood of association with hand OA in the discovery stage and one of them (rs716508), was successfully confirmed in the replication stage (meta-analysis p = 1.81×10 −5 ). The C allele conferred a reduced risk of 33% to 41% using a case–control definition. The SNP is located in intron 1 of the A2BP1 gene. This study also found that the same allele of the SNP significantly reduced bone density at both the hip and spine (p<0.01), suggesting the potential mechanism of the gene in hand OA might be via effects on subchondral bone. The authors' findings provide a potential new insight into genetic mechanisms in the development of hand OA.