. (2011) A variant in MCF2L is associated with osteoarthritis. American Journal of Human Genetics, Vol.89 (No.3). pp. 446-450. ISSN 0002-9297

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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 = 2.1 x 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.

Item Type:	Journal Article
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RB Pathology R Medicine > RC Internal medicine
Divisions:	Faculty of Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH):	Osteoarthritis -- Pathogenesis -- Research, Medical genetics, Meta-analysis, Disease susceptibility -- Genetic aspects
Journal or Publication Title:	American Journal of Human Genetics
Publisher:	Elsevier
ISSN:	0002-9297
Date:	9 September 2011
Volume:	Vol.89
Number:	No.3
Number of Pages:	5
Page Range:	pp. 446-450
Identification Number:	10.1016/j.ajhg.2011.08.001
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Restricted or Subscription Access
Funder:	AstraZeneca (Firm)
URI:	http://wrap.warwick.ac.uk/id/eprint/38127

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