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AuthorsDay-Williams, Aaron G
Rayner, Nigel W
Helgadottir, Hafdis T
Kerkhof, Hanneke J M
Arden, Nigel K
Ollier, William E R
Ralston, Stuart H
Spector, Timothy D
Wallis, Gillian A
Wilkinson, J Mark
Doherty, Sally A
Maciewicz, Rose A
Muir, Kenneth R
Uitterlinden, Andre G
van Meurs, Joyce B J
Valdes, Ana M
MetadataShow full item record
CitationAm. J. Hum. Genet. 2011, 89(3):446-50
AbstractOsteoarthritis (OA) is a prevalent, heritable degenerative joint disease with a substantial public health impact. We used a 1000-Genomes-Project-based imputation in a genome-wide association scan for osteoarthritis (3177 OA cases and 4894 controls) to detect a previously unidentified risk locus. We discovered a small disease-associated set of variants on chromosome 13. Through large-scale replication, we establish a robust association with SNPs in MCF2L (rs11842874, combined odds ratio [95% confidence interval] 1.17 [1.11-1.23], p = 2.1 × 10(-8)) across a total of 19,041 OA cases and 24,504 controls of European descent. This risk locus represents the third established signal for OA overall. MCF2L regulates a nerve growth factor (NGF), and treatment with a humanized monoclonal antibody against NGF is associated with reduction in pain and improvement in function for knee OA patients.
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RightsArchived with thanks to American journal of human genetics
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