Expressive

rs12406439 - OLFM3 - COL11A1

Magnitude 2.2 · 2 studies on file

Reported associations

  • 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

  • A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome - Unknown journal (n.d.) · Unknown authors · PubMed 30833571

    ABSTRACT: Carpal tunnel syndrome (CTS) is a common and disabling condition of the hand caused by entrapment of the median nerve at the level of the wrist. It is the commonest entrapment neuropathy, with estimates of prevalence ranging between 5-10%. Here, we undertake a genome-wide association study (GWAS) of an entrapment neuropathy, using 12,312 CTS cases and 389,344 controls identified in UK Biobank. We discover 16 susceptibility loci for CTS with p < 5 × 10−8. We identify likely causal genes in the pathogenesis of CTS, including ADAMTS17, ADAMTS10 and EFEMP1, and using RNA sequencing demonstrate expression of these genes in surgically resected tenosynovium from CTS patients. We perform Mendelian randomisation and demonstrate a causal relationship between short stature and

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Lifestyle

  • Maintain healthy body weight Moderate

    Strong genetic correlation between CTS and BMI (rg = 0.346, p = 5.8e-23); obesity increases intra-compartmental pressure on median nerve

    Monitor BMI; if overweight, consider gradual weight reduction to normal range

  • Optimize occupational hand and wrist ergonomics Moderate

    Study identifies occupational factors as modifiable contributors to CTS; genetic predisposition may lower the symptom threshold at lower force exposure

    If profession involves repetitive hand/wrist use, evaluate ergonomic controls and implement regular rest breaks

Screening

  • Early recognition of carpal tunnel syndrome symptoms Moderate

    Genetic variant increases CTS susceptibility via effects on extracellular matrix and skeletal growth; early detection before severe nerve compression improves clinical outcomes

    Note any new numbness, tingling, or thumb weakness; seek evaluation if symptoms persist beyond 2 weeks