rs11049193 - RN7SKP15 - PTHLH

Magnitude 2.2 · 1 study on file

Reported associations

  • A novel variant in GLIS3 is associated with osteoarthritis - Unknown journal (n.d.) · Unknown authors · PubMed 29436472

    ABSTRACT: Objectives Osteoarthritis (OA) is a complex disease, but its genetic aetiology remains poorly characterised. To identify novel susceptibility loci for OA, we carried out a genome-wide association study (GWAS) in individuals from the largest UK-based OA collections to date. Methods We carried out a discovery GWAS in 5414 OA individuals with knee and/or hip total joint replacement (TJR) and 9939 population-based controls. We followed-up prioritised variants in OA subjects from the interim release of the UK Biobank resource (up to 12 658 cases and 50 898 controls) and our lead finding in operated OA subjects from the full release of UK Biobank (17 894 cases and 89 470 controls). We investigated its functional implications in methylation, gene expression and proteomics data i


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • osteoarthritis prevention strategies for genetic risk Moderate

    Identified genetic risk for hip osteoarthritis enables early intervention planning and risk reduction

    Review modifiable OA risk factors and create personalized prevention and monitoring plan

Screening

  • hip osteoarthritis screening Moderate

    T allele of rs11049193 (PTHLH) associated with increased risk of hip osteoarthritis requiring replacement

    Establish baseline hip status via clinical assessment or imaging; annual monitoring for symptoms