Expressive

rs11696009 - RPS20P10 - CYP26B1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture - Unknown journal (n.d.) · Unknown authors · PubMed 30048462

    ABSTRACT: Low bone mineral density (BMD) leads to osteoporosis, and is a risk factor for bone fractures, including stress fractures. Using data from UK Biobank, a genome-wide association study identified 1,362 independent SNPs that clustered into 899 loci of which 613 are new. These data were used to train a genetic algorithm using 22,886 SNPs as predictors and showing a correlation with heel bone mineral density of 0.415. Combining this genetic algorithm with height, weight, age and sex resulted in a correlation with heel bone mineral density of 0.496. Individuals with low scores (2.2% of total) showed a change in BMD of -1.16 T-score units, an increase in risk for osteoporosis of 17.4 fold and an increase in risk for fracture of 1.87 fold. Genetic predictors could assist in the identific

  • 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

  • Adequate daily calcium intake High

    Calcium is essential for bone formation; genetic predisposition to lower BMD requires optimized calcium intake

    1000-1200 mg daily from diet and supplements; prioritize dairy, fortified foods, and leafy greens

Exercise

  • Weight-bearing and resistance exercise High

    Mechanical loading stimulates bone formation; individuals with genetic lower BMD particularly benefit from consistent loading

    30-45 minutes moderate weight-bearing or resistance exercise 4-5 times weekly

Screening

  • Bone density screening starting at age 50 High

    Genetic variant associated with reduced heel bone mineral density; early screening enables preventive intervention

    Discuss baseline DEXA scan or quantitative ultrasound at age 50; repeat every 1-2 years if abnormal

Supplements

  • Vitamin D supplementation or annual testing Moderate

    Vitamin D supports calcium absorption and bone mineralization; genetic predisposition to lower BMD requires optimized vitamin D

    Test 25-OH vitamin D level annually; maintain 30-50 ng/mL; supplement 1000-2000 IU daily if deficient