Expressive

rs11831278 - SOX5

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

  • Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations - Unknown journal (n.d.) · Unknown authors · PubMed 39511132

    ABSTRACT: Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding of the genetic factors influencing LDH. We perform a genome-wide association analysis (GWAS) of LDH in the FinnGen project and in Estonian and UK biobanks, followed by a genome-wide meta-analysis to combine the results. In the meta-analysis, we identify 41 loci that have not been associated with LDH in prior studies on top of the 23 known risk loci. We detect LDH-associated loci in the vicinity of genes related to inflammation, disc-related structures, and synaptic transmission. Overall, our research contributes to a deeper understanding of the

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Lifestyle context

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

Exercise

  • core strengthening exercises Moderate

    Strong spinal and core muscles stabilize intervertebral discs and reduce abnormal motion that accelerates degeneration

    30 minutes moderate activity 3-4 times weekly with core strengthening focus

Lifestyle

  • weight management for joint protection Moderate

    Mechanical loading accelerates disc degeneration and osteoarthritis; healthy BMI reduces stress on spine and joints

    maintain BMI 18.5-24.9 kg/m2

Screening

  • spine imaging or physical assessment Moderate

    T allele increases lumbar disc herniation risk 1.09-fold; baseline assessment may identify early structural changes

    baseline spine imaging or assessment by age 40-50