Expressive

rs117943325 - CRLF1, UBA52

Magnitude 2.2 · 2 studies 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

  • GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids - Unknown journal (n.d.) · Unknown authors · PubMed 40545721

    ABSTRACT: Summary Previous genome-wide association studies (GWAS) have identified genetic loci associated with the circulating levels of fatty acids (FAs), but the biological mechanisms of these genetic associations remain largely unexplored. Here, we conducted GWAS to identify additional genetic loci for 19 circulating FA traits in UK Biobank participants of European ancestry (n = 239,268) and five other ancestries (n = 508-4,663). We leveraged the GWAS findings to characterize genetic correlations and colocalized regions among FAs, explore sex differences, examine FA loci influenced by lipoprotein metabolism, and apply statistical fine-mapping to pinpoint putative causal variants. We integrated GWAS signals with multi-omics quantitative trait loci (QTL) to reveal intermediate molecular

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Lifestyle context

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

Exercise

  • Regular weight-bearing and core strengthening exercises Moderate

    Spinal muscle strength reduces joint load and delays osteoarthritis onset in genetically predisposed individuals

    150 minutes/week moderate aerobic activity plus core exercises 2-3 times weekly

Lifestyle

  • Maintain healthy body weight to reduce spine stress Moderate

    Excess weight increases mechanical load on spine, accelerating osteoarthritis in genetically susceptible individuals

    Target BMI 18.5-24.9; discuss individualized weight management with healthcare provider

Screening

  • Baseline and periodic spinal imaging assessment Moderate

    rs117943325-A allele strongly increases spine osteoarthritis risk; early detection enables preventive care

    Baseline imaging at age 40-50, then every 5-10 years based on findings