Expressive

rs116504838 - NDUFB4P4 - KIF3C

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

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Diet

  • adequate calcium intake Moderate

    Genetic predisposition to lower bone mineral density requires sufficient calcium for bone formation.

    Target 1000-1200 mg elemental calcium daily via food sources

Exercise

  • weight-bearing and resistance exercise Moderate

    Mechanical loading stimulates bone formation and is essential for maintaining density in genetically at-risk individuals.

    150+ minutes moderate weight-bearing activity (walking, dancing) weekly, plus resistance training 2+ days/week

Screening

  • bone mineral density via DXA scan Moderate

    Genetic association with lower heel bone mineral density indicates elevated osteoporosis risk.

    Baseline DXA at age 50 (women) or 70 (men); repeat 1-2 years if abnormal

Supplements

  • vitamin D supplementation Moderate

    Vitamin D is essential for calcium absorption and bone mineralization in those with genetic bone density risk.

    1000-2000 IU daily; target 25-OH vitamin D greater than 30 ng/mL