rs12198480 - SNAP91

Magnitude 2.2 · 1 study on file

Reported associations

  • Translational genomics of osteoarthritis in 1,962,069 individuals - Unknown journal (n.d.) · Unknown authors · PubMed 40205036

    ABSTRACT: Osteoarthritis is the third most rapidly growing health condition associated with disability, after dementia and diabetes. By 2050, the total number of patients with osteoarthritis is estimated to reach 1 billion worldwide. As no disease-modifying treatments exist for osteoarthritis, a better understanding of disease aetiopathology is urgently needed. Here we perform a genome-wide association study meta-analyses across up to 489,975 cases and 1,472,094 controls, establishing 962 independent associations, 513 of which have not been previously reported. Using single-cell multiomics data, we identify signal enrichment in embryonic skeletal development pathways. We integrate orthogonal lines of evidence, including transcriptome, proteome and epigenome profiles of primary joint tiss


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Lifestyle context

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

Discuss with your doctor

  • osteoarthritis risk and surveillance Moderate

    rs12198480 T allele associated with osteoarthritis risk (1.017 odds ratio, p=7.00e-9, n=1,962,069), suggesting heightened OA susceptibility.

    Discuss risk status and age-appropriate screening at next healthcare visit