rs12326005 - NMT1

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

  • calcium-rich foods or supplementation Moderate

    Calcium essential for bone matrix mineralization; critical for individuals with genetic BMD reduction

    1000-1200 mg daily from food sources; supplement if dietary intake insufficient

Exercise

  • weight-bearing and resistance exercise Moderate

    Mechanical loading activates osteoblasts and stimulates bone formation

    30+ minutes moderate intensity 4-5 days per week; include resistance training

Screening

  • bone mineral density screening Moderate

    G risk allele causes lower heel bone mineral density, increasing fracture risk

    DEXA scan or heel ultrasound; baseline assessment, repeat per clinical protocol