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Osteoarthritis (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.

Original publication




Journal article


American journal of human genetics

Publication Date





446 - 450


Wellcome Trust Sanger Institute, Hinxton, UK.


arcOGEN Consortium, Chromosomes, Human, Pair 13, Humans, Osteoarthritis, Genetic Predisposition to Disease, Nerve Growth Factor, Guanine Nucleotide Exchange Factors, Antibodies, Monoclonal, Odds Ratio, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Genome-Wide Association Study, Rho Guanine Nucleotide Exchange Factors