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A variant in MCF2L is associated with osteoarthritis
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(2011) A variant in MCF2L is associated with osteoarthritis. American Journal of Human Genetics, Vol.89 (No.3). pp. 446-450. doi:10.1016/j.ajhg.2011.08.001 Research output not available from this repository, contact author.
Official URL: http://dx.doi.org/10.1016/j.ajhg.2011.08.001
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 | ||||
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| Subjects: | Q Science > QH Natural history > QH426 Genetics R Medicine > RB Pathology R Medicine > RC Internal medicine |
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| 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 | ||||
| Official Date: | 9 September 2011 | ||||
| Dates: |
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| Volume: | Vol.89 | ||||
| Number: | No.3 | ||||
| Number of Pages: | 5 | ||||
| Page Range: | pp. 446-450 | ||||
| DOI: | 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) |
Data sourced from Thomson Reuters' Web of Knowledge
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