作者
Aaron G Day-Williams, Lorraine Southam, Kalliope Panoutsopoulou, Nigel W Rayner, Tonu Esko, Karol Estrada, Hafdis T Helgadottir, Albert Hofman, Throvaldur Ingvarsson, Helgi Jonsson, Aime Keis, Hanneke JM Kerkhof, Gudmar Thorleifsson, Nigel K Arden, Andrew Carr, Kay Chapman, Panos Deloukas, John Loughlin, Andrew McCaskie, William ER Ollier, Stuart H Ralston, Timothy D Spector, Gillian A Wallis, J Mark Wilkinson, Nadim Aslam, Fraser Birell, Ian Carluke, John Joseph, Ashok Rai, Mike Reed, Kirsten Walker, Sally A Doherty, Ingileif Jonsdottir, Rose A Maciewicz, Kenneth R Muir, Andres Metspalu, Fernando Rivadeneira, Kari Stefansson, Unnur Styrkarsdottir, Andre G Uitterlinden, Joyce BJ Van Meurs, Weiya Zhang, Ana M Valdes, Michael Doherty, Eleftheria Zeggini
发表日期
2011/9/9
期刊
The American Journal of Human Genetics
卷号
89
期号
3
页码范围
446-450
出版商
Elsevier
简介
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.
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AG Day-Williams, L Southam, K Panoutsopoulou… - The American Journal of Human Genetics, 2011