Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

Journal article

Osteoarthritis is the most common form of arthritis and is a major cause of pain and disability in the elderly. To search for sequence variants that confer risk of osteoarthritis of the hand, we carried out a genome-wide association study (GWAS) in subjects with severe hand osteoarthritis, using variants identified through the whole-genome sequencing of 2,230 Icelanders. We found two significantly associated loci in the Icelandic discovery set: at 15q22 (frequency of 50.7%, odds ratio (OR) = ...

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Authors: Styrkarsdottir, U; Thorleifsson, G; Helgadottir, H; Bomer, N; Metrustry, S

• Publication status: Published
• Journal: Nature genetics
• Volume: 46
• Issue: 5
• Pages: 498-502
• Publication date: 2014-05-01
• DOI: 10.1038/ng.2957
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Iceland; Sequence Analysis, DNA; Genetic Association Studies; Netherlands; Genetic Predisposition to Disease; Retinal Dehydrogenase; Genetic Variation; Gene Expression Profiling; Humans; Genotype; Great Britain; Hand; arcOGEN Consortium; Molecular Sequence Data; TREAT-OA Consortium; Computational Biology; Base Sequence; Cartilage; Chromosomes, Human, Pair 1; Osteoarthritis