Expressive

rs11409738 - DYNC1I1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Novel genetic loci associated with osteoarthritis in multi-ancestry analyses in the Million Veteran Program and UK Biobank. - Nature genetics (2022) · McDonald MN, Lakshman Kumar P, Srinivasasainagendra V, Nair A, Rocco AP, Wilson AC, Chiles JW, Richman JS, Pinson SA, Dennis RA, Jagadale V, Brown CJ, Pyarajan S, Tiwari HK, Bamman MM, Singh JA · PubMed 36411363

    Osteoarthritis is a common progressive joint disease. As no effective medical interventions are available, osteoarthritis often progresses to the end stage, in which only surgical options such as total joint replacement are available. A more thorough understanding of genetic influences of osteoarthritis is essential to develop targeted personalized approaches to treatment, ideally long before the end stage is reached. To date, there have been no large multiancestry genetic studies of osteoarthritis. Here, we leveraged the unique resources of 484,374 participants in the Million Veteran Program and UK Biobank to address this gap. Analyses included participants of European, African, Asian and Hispanic descent. We discovered osteoarthritis-associated genetic variation at 10 loci and replicated

  • Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 30664745

    ABSTRACT: Osteoarthritis is the most common musculoskeletal disease and the leading cause of disability globally. Here, we perform a genome-wide association study for osteoarthritis (77,052 cases and 378,169 controls), analysing 4 phenotypes: knee osteoarthritis, hip osteoarthritis, knee and/or hip osteoarthritis, and any osteoarthritis. We discover 64 signals, 52 of them novel, more than doubling the number of established disease loci. Six signals fine map to a single variant. We identify putative effector genes by integrating eQTL colocalization, fine-mapping, human rare disease, animal model, and osteoarthritis tissue expression data. We find enrichment for genes underlying monogenic forms of bone development diseases, and for the collagen formation and extracellular matrix organisation

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