To identify hand OA susceptibility gene, we utilized a two-stage approach genome-wide association study (GWAS) using two discovery samples (the TwinsUK cohort and the Rotterdam discovery subset; a total of 1804 individuals) and four replication samples (the Chingford study, the Chuvasha Skeletal Aging study, the Rotterdam replication subset, and the GARP Study; a total of 3266 individuals). 5 SNPs suggested the 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 33-41% using a case-control definition. The SNP is located in intron 1 of the A2BP1 gene. We 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. Our findings provide a potential new insight into genetic mechanisms in the development of hand OA.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.