A variant in MCF2L is associated with osteoarthritis
. (2011) A variant in MCF2L is associated with osteoarthritis. American Journal of Human Genetics, Vol.89 (No.3). pp. 446-450. ISSN 0002-9297 Full text not available from this repository.
Official URL: http://dx.doi.org/10.1016/j.ajhg.2011.08.001
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|
|Date:||9 September 2011|
|Number of Pages:||5|
|Page Range:||pp. 446-450|
|Access rights to Published version:||Restricted or Subscription Access|
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