Expressive

rs11113217 - CRY1 - SETP7

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

  • Genome-wide association study of preserved ratio impaired spirometry (PRISm) - Unknown journal (n.d.) · Unknown authors · PubMed 38097206

    ABSTRACT: Background Preserved ratio impaired spirometry (PRISm) is defined as a forced expiratory volume in 1 s (FEV1) <80% predicted and FEV1/forced vital capacity ≥0.70. PRISm is associated with respiratory symptoms and comorbidities. Our objective was to discover novel genetic signals for PRISm and see if they provide insight into the pathogenesis of PRISm and associated comorbidities. Methods We undertook a genome-wide association study (GWAS) of PRISm in UK Biobank participants (Stage 1), and selected single nucleotide polymorphisms (SNPs) reaching genome-wide significance for replication in 13 cohorts (Stage 2). A combined meta-analysis of Stage 1 and Stage 2 was done to determine top SNPs. We used cross-trait linkage disequilibrium score regression to estimate genome-wide genet

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