A genome-wide association study has revealed sequence variants that confer an increased risk of severe osteoarthritis (OA) of the hand. A group of common variants at 15q22 (represented by rs12907038[G]; frequency 50.7%, odds ratio [OR] 1.51, P = 3.99 × 10−10), located within the ALDH1A2 gene, were associated with hand OA in the discovery set of Icelandic individuals (n = 2,230); the association was replicated consistently in five additional European sample sets. The investigators also describe a rare variant at the 1p31 locus (frequency 0.02%, OR = 50.6, P = 9.8 × 10−10), which in one Icelandic family with a large number of cases segregated with severe hand OA and generalized OA. The rare variant was also found in other European populations, with 6 of the 15 carriers identified known to have hand or knee OA.
References
Styrkarsdottir, U. et al. Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31. Nat. Genet. 10.1038/ng.2957
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GWAS identifies risk variants for severe hand OA. Nat Rev Rheumatol 10, 320 (2014). https://doi.org/10.1038/nrrheum.2014.69
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DOI: https://doi.org/10.1038/nrrheum.2014.69
