A Variant in MCF2L Is Associated with Osteoarthritis.
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Authors
Birrell, Fraser
Carluke, Ian
Reed, Mike
Walker, Kirsten
Issue Date
2011
Type
Article
Language
en
Keywords
osteoarthritis
Alternative Title
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 = 2.1x10-8) 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.
Description
Citation
Day-Williams, A.G., Southam, L., Panoutsopoulou, K. et al. (2011) A variant in MCF2L is associated with osteoarthritis. American Journal of Human Genetics; 89 (3) : 446-450.
Publisher
License
Journal
American Journal of Human Genetics
Volume
Issue
PubMed ID
ISSN
1537-6605