DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Osteoarthritis. The EFO term osteoarthritis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: osteoarthritis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

AG Day-Williams, L Southam, K Panoutsopoulou, NW Rayner, T Esko, K Estrada, HT Helgadottir, A Hofman, T Ingvarsson, H Jonsson, A Keis, HJ Kerkhof, G Thorleifsson, NK Arden, A Carr, K Chapman, P Deloukas, J Loughlin, A McCaskie, WE Ollier, SH Ralston, TD Spector, GA Wallis, JM Wilkinson, N Aslam, F Birell, I Carluke, J Joseph, A Rai, M Reed, K Walker, SA Doherty, I Jonsdottir, RA Maciewicz, KR Muir, A Metspalu, F Rivadeneira, K Stefansson, U Styrkarsdottir, AG Uitterlinden, JB van Meurs, W Zhang, AM Valdes, M Doherty, E Zeggini

TITLE:

A variant in MCF2L is associated with osteoarthritis.

JOURNAL:

American journal of human genetics Sep 2011, Vol 89, pp. 446-50

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 × 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. PUBMED: 21871595
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