rs10505116 - RSPO2
Magnitude 2.2 · 1 study on file
Reported associations
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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
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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
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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
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baseline bone mineral density assessment Moderate
rs10505116 risk variant strongly associated with lower heel BMD; baseline testing establishes osteoporosis risk
Supplements
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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