GWAS of OA-related endophenotypes


The aim is to identify genes involved in the aetiology of OA, by the use of radiographically stratified phenotypes which we refer to as endophenotypes. We wish to demonstrate the power of endophenotypes (clean and biological relevant phenotyping). We have generated endophenotypes based on the radiographic measurements (joint space narrowing, osteophytosis, semi-quantitative radiographic OA score)(hip(pelvic) X-ray) for use in GWAS. We wish to collaborate within the frame-work of the Genetics of Osteoarthritis consortium with any cohort whom has collected similar data. The GO Endophenotype working group is conducting preliminary analyses as of November 2023 but is still accepting new cohorts. Currently, we have expressions of interest from: UK Biobank, Rotterdam, JOCOOA, Shanghai Changfeng, HKDDD, GARP, RAAK, CHECK, MrOS, SOF, Framingham, Chingford, ArCOGEN.



Identification of novel genetic associations with osteoarthritis by the use of endophenotyes and stratified phenotypes, which we view as proxies for the separate biological processes. In addition, to better understand known OA genetic associations by the use of endophenotyes and stratified phenotypes. Combined our aim is to identify novel pathways underlying osteoarthritis disease aetiology. 



Further details including the analysis plan can be found here –


Please get in touch with Ben and Cindy if you would like to be involved or want more information:

Ben Faber ( & Cindy G. Boer (