A variant in MCF2L is associated with osteoarthritis

Day-Williams, Aaron G., Southam, Lorraine, Panoutsopoulou, Kalliope, Rayner, Nigel W., Esko, Tonu, Estrada, Karol, Helgadottir, Hafdis T., Hofman, Albert, Ingvarsson, Throvaldur, Jonsson, Helgi, Keis, Aime, Kerkhof, Hanneke J. M., Thorleifsson, Gudmar, Arden, Nigel K., Carr, Andrew, Chapman, Kay, Deloukas, Panos, Loughlin, John, McCaskie, Andrew, Ollier, William E. R., Ralston, Staurt H., Spector, Timothy D., Wallis, Gillian A., Wilkinson, J. Mark, Aslam, Nadim, Birrell, Fraser, Carluke, Ian, Joseph, John, Rai, Ashok, Reed, Mike, Walker, Kirsten, Doherty, Sally A., Jonsdottir, Ingileif, Maciewicz, Rose A., Muir, Kenneth A., Metspalu, Andres, Rivadeneira, Fernando, Stefansson, Kari, Styrkarsdottir, Unnur, Uitterlinden, Andre G., van Meurs, Joyce B. J., Zhang, Weiya, Valdes, Ana M., Doherty, Michael and Zeggini, Elefthira (2011) A variant in MCF2L is associated with osteoarthritis. The American Journal of Human Genetics, 89 (3), 446-450. (doi:10.1016/j.ajhg.2011.08.001). (PMID:21871595)

Abstract

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 ¼ 2.13 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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