New release brings GO Consortium OA GWAS to the MSK-KP

New genetic association datasets

With its latest release, the MSK-KP now includes the largest GWAS for osteoarthritis (OA) to date, from the Genetics of Osteoarthritis (GO) Consortium. Published by Boer et al., 2021, the study includes associations for 11 OA-related phenotypes, including OA in hip, knee, spine, finger, thumb, and hand, and having had joint replacement surgery. Associations were analyzed in main and sex-specific analyses, and a separate analysis generated associations for early-onset OA. Summary statistic files for these datasets are available from the Downloads page of the MSK-KP. The Boer et al. study included a list of predicted effector genes for OA, and we are working to make that list available in the MSK-KP.

Several other datasets for non-musculoskeletal associations have also been added to the MSK-KP:

New information available on Gene pages

To provide more insight into the functions and biological roles of gene products, Gene pages of the Portals (see an example) now include Gene Ontology and pathway annotations, obtained from The annotations are accessible via tabs in the Functional associations section at the top of the page.

The Gene page now also includes the HuGE (human genetic evidence) score for a gene, calculated with the experimental Human Genetic Evidence Calculator. The score is meant to quantify the support from available genetic evidence for the involvement of a gene product in a trait or disease. The HuGE score for the most significantly associated phenotype in the region is shown by default, and the phenotype may be changed to see other scores. Click the "View evidence in HuGE calculator" link to navigate to the stand-alone interface, where you can modify other parameters.

Nature Reviews: Rheumatology review on the MSK-KP

A new review article in Nature Reviews: Rheumatology by Jennifer Westendorf et al. summarizes the current state of the MSK-KP and its future directions. Please give it a read, and consider whether you might have results to share in the MSK-KP!