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.
Original language | English |
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Pages (from-to) | 446-450 |
Number of pages | 5 |
Journal | American Journal of Human Genetics |
Volume | 89 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2011 |
Research programs
- EMC MM-01-25-01
- EMC MM-01-39-09-A
- EMC NIHES-01-64-01