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A variant in MCF2L is associated with osteoarthritis

A variant in MCF2L is associated with osteoarthritis
A variant in MCF2L is associated with osteoarthritis
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.
0002-9297
446-450
Day-Williams, Aaron G.
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Southam, Lorraine
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Panoutsopoulou, Kalliope
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Rayner, Nigel W.
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Esko, Tonu
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Estrada, Karol
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Helgadottir, Hafdis T.
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Hofman, Albert
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Ingvarsson, Throvaldur
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Jonsson, Helgi
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Keis, Aime
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Kerkhof, Hanneke J. M.
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Thorleifsson, Gudmar
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Arden, Nigel K.
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Carr, Andrew
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Chapman, Kay
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Deloukas, Panos
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Loughlin, John
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McCaskie, Andrew
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Ollier, William E. R.
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Ralston, Staurt H.
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Spector, Timothy D.
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Wallis, Gillian A.
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Wilkinson, J. Mark
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Aslam, Nadim
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Birrell, Fraser
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Carluke, Ian
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Joseph, John
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Rai, Ashok
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Reed, Mike
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Walker, Kirsten
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Doherty, Sally A.
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Jonsdottir, Ingileif
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Maciewicz, Rose A.
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Muir, Kenneth A.
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Metspalu, Andres
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Rivadeneira, Fernando
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Stefansson, Kari
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Styrkarsdottir, Unnur
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Uitterlinden, Andre G.
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van Meurs, Joyce B. J.
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Zhang, Weiya
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Valdes, Ana M.
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Doherty, Michael
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Zeggini, Elefthira
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Day-Williams, Aaron G.
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Southam, Lorraine
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Panoutsopoulou, Kalliope
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Rayner, Nigel W.
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Esko, Tonu
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Estrada, Karol
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Helgadottir, Hafdis T.
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Hofman, Albert
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Ingvarsson, Throvaldur
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Jonsson, Helgi
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Keis, Aime
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Kerkhof, Hanneke J. M.
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Thorleifsson, Gudmar
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Arden, Nigel K.
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Carr, Andrew
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Chapman, Kay
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Deloukas, Panos
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Loughlin, John
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McCaskie, Andrew
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Ollier, William E. R.
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Ralston, Staurt H.
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Spector, Timothy D.
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Wallis, Gillian A.
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Wilkinson, J. Mark
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Aslam, Nadim
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Birrell, Fraser
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Carluke, Ian
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Joseph, John
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Rai, Ashok
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Reed, Mike
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Walker, Kirsten
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Doherty, Sally A.
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Jonsdottir, Ingileif
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Maciewicz, Rose A.
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Muir, Kenneth A.
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Metspalu, Andres
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Rivadeneira, Fernando
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Stefansson, Kari
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Styrkarsdottir, Unnur
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Uitterlinden, Andre G.
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van Meurs, Joyce B. J.
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Zhang, Weiya
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Valdes, Ana M.
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Doherty, Michael
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Zeggini, Elefthira
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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)

Record type: Article

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.

Full text not available from this repository.

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Published date: September 2011
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 205503
URI: http://eprints.soton.ac.uk/id/eprint/205503
ISSN: 0002-9297
PURE UUID: 4879b803-5250-4cb7-b223-7065955d09de

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Date deposited: 13 Dec 2011 13:59
Last modified: 16 Jul 2019 23:16

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Contributors

Author: Aaron G. Day-Williams
Author: Lorraine Southam
Author: Kalliope Panoutsopoulou
Author: Nigel W. Rayner
Author: Tonu Esko
Author: Karol Estrada
Author: Hafdis T. Helgadottir
Author: Albert Hofman
Author: Throvaldur Ingvarsson
Author: Helgi Jonsson
Author: Aime Keis
Author: Hanneke J. M. Kerkhof
Author: Gudmar Thorleifsson
Author: Nigel K. Arden
Author: Andrew Carr
Author: Kay Chapman
Author: Panos Deloukas
Author: John Loughlin
Author: Andrew McCaskie
Author: William E. R. Ollier
Author: Staurt H. Ralston
Author: Timothy D. Spector
Author: Gillian A. Wallis
Author: J. Mark Wilkinson
Author: Nadim Aslam
Author: Fraser Birrell
Author: Ian Carluke
Author: John Joseph
Author: Ashok Rai
Author: Mike Reed
Author: Kirsten Walker
Author: Sally A. Doherty
Author: Ingileif Jonsdottir
Author: Rose A. Maciewicz
Author: Kenneth A. Muir
Author: Andres Metspalu
Author: Fernando Rivadeneira
Author: Kari Stefansson
Author: Unnur Styrkarsdottir
Author: Andre G. Uitterlinden
Author: Joyce B. J. van Meurs
Author: Weiya Zhang
Author: Ana M. Valdes
Author: Michael Doherty
Author: Elefthira Zeggini

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