Expressive

rs11615765 - TMTC2

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.

Exercise

  • weight-bearing exercise Moderate

    Weight-bearing activity stimulates bone formation and is particularly important for those at genetic risk for lower bone mineral density

    30-45 minutes of weight-bearing exercise 3-4 times per week (walking, jogging, resistance training)

Screening

  • baseline DXA scan Moderate

    T risk allele associated with lower heel bone mineral density; DXA enables early detection and monitoring of osteoporosis risk

    Discuss with provider; consider baseline DXA at ages 40-50 or earlier if additional osteoporosis risk factors present

Supplements

  • calcium and vitamin D supplementation Moderate

    T risk allele associated with lower heel bone mineral density; optimal calcium and vitamin D levels support bone formation and strength

    Target 1000-1200 mg calcium and 1000-2000 IU vitamin D daily; adjust based on serum 25-hydroxyvitamin D levels