rs10505116 - RSPO2

Magnitude 2.2 · 1 study on file

Reported associations

  • An atlas of genetic influences on osteoporosis in humans and mice - Unknown journal (n.d.) · Unknown authors · PubMed 30598549

    ABSTRACT: Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative ultrasound (eBMD) in 426,824 individuals, identifying 518 genome-wide significant loci (301 novel), explaining 20% of its variance. We identified 13 bone fracture loci, all associated with eBMD, in ~1.2M individuals. We then identified target genes enriched for genes known to influence bone density and strength (maximum odds-ratio=58, p=10-75) from cell-specific features, including chromatin conformation and accessible chromatin sites. We next performed rapid-throughput skeletal phenotyping of 126 knockout mice lacking target genes and found an increased abnormal skeletal phenotype frequency compared to 526


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Lifestyle context

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

Diet

  • dietary calcium intake Moderate

    Calcium is fundamental for bone mineralization; risk allele linked to lower BMD

    Target 1000-1200 mg daily from food sources when possible

Exercise

  • weight-bearing exercise Moderate

    rs10505116 risk allele associated with reduced heel bone mineral density; weight-bearing activity strengthens bone

    150 minutes weekly of weight-bearing or resistance exercise

Screening

  • baseline bone mineral density assessment Moderate

    rs10505116 risk variant strongly associated with lower heel BMD; baseline testing establishes osteoporosis risk

Supplements

  • vitamin D supplementation Moderate

    Vitamin D essential for calcium absorption and bone remodeling; risk allele associated with lower BMD

    1000-2000 IU daily, targeting serum 25-OH vitamin D above 30 ng/mL