rs12193102 - SUPT3H
Magnitude 2.2 · 1 study on file
Reported associations
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Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 30664745
ABSTRACT: Osteoarthritis is the most common musculoskeletal disease and the leading cause of disability globally. Here, we perform a genome-wide association study for osteoarthritis (77,052 cases and 378,169 controls), analysing 4 phenotypes: knee osteoarthritis, hip osteoarthritis, knee and/or hip osteoarthritis, and any osteoarthritis. We discover 64 signals, 52 of them novel, more than doubling the number of established disease loci. Six signals fine map to a single variant. We identify putative effector genes by integrating eQTL colocalization, fine-mapping, human rare disease, animal model, and osteoarthritis tissue expression data. We find enrichment for genes underlying monogenic forms of bone development diseases, and for the collagen formation and extracellular matrix organisation
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Osteoarthritis prevention and personalized screening Moderate
Genetic predisposition warrants proactive medical guidance and personalized prevention strategy
Exercise
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Regular low-impact aerobic exercise Moderate
Exercise promotes joint cartilage health and muscle strength while reducing mechanical stress in genetically at-risk individuals
150 minutes moderate-intensity aerobic activity per week using low-impact options
Lifestyle
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Maintain healthy BMI to reduce joint stress Moderate
Genetic predisposition to osteoarthritis combined with excess body weight increases joint mechanical load
Maintain BMI <25 or discuss personalized target with physician
Screening
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Joint pain screening and osteoarthritis assessment Moderate
rs12193102 is associated with increased osteoarthritis risk; early detection enables preventive intervention
Annual assessment for joint pain, stiffness, range of motion changes starting at age 40