Expressive

rs10872676 - CCDC170 - ESR1

Magnitude 2.2 · 2 studies on file

Reported associations

  • A longitudinal genome-wide association study of bone mineral density mean and variability in the UK Biobank. - Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2023) · He D, Liu H, Wei W, Zhao Y, Cai Q, Shi S, Chu X, Qin X, Zhang N, Xu P, Zhang F · PubMed 37500982

    Bone mineral density (BMD) is an essential predictor of osteoporosis and fracture. We conducted a genome-wide trajectory analysis of BMD and analyzed the BMD change. This study aimed to identify the genetic architecture and potential biomarkers of BMD. Our analysis included 141,261 white participants from the UK Biobank with heel BMD phenotype data. We used a genome-wide trajectory analysis tool, TrajGWAS, to conduct a genome-wide association study (GWAS) of BMD. Then, we validated our findings in previously reported BMD genetic associations and performed replication analysis in the Asian participants. Finally, gene-set enrichment analysis (GSEA) of the identified candidate genes was conducted using the FUMA platform. A total of 52 genes associated with BMD trajectory mean were identified,

  • Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance - Unknown journal (n.d.) · Unknown authors · PubMed 41206123

    ABSTRACT: Abstract The ultimate goal of a genome-wide association study (GWAS) is to translate its discoveries into clinical practice. To explore the clinical use of GWAS findings in the bone field, we conducted a GWAS of dual-energy X-ray absorptiometry (DXA)-derived bone mineral density (BMD) traits at 11 skeletal sites, within over 30,000 European individuals from the UK Biobank. A total of 91 unique and independent loci were identified for 11 DXA-derived BMD traits and fractures, including 5 novel loci (harboring the genes ABCA1, CHSY1, CYP24A1, SWAP70, and PAX1) for 6 BMD traits. These loci exhibited evidence of association in both males and females, which could serve as independent replication. We demonstrated that each polygenic risk score (PRS) was independently associated with fra

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Lifestyle context

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

Bloodwork

  • Vitamin D (25-OH) level testing Moderate

    Serum 25-OH vitamin D is the best indicator of vitamin D status and guides optimal supplementation for bone health.

    Test annually or when adjusting supplementation; target level 30-50 ng/mL

Diet

  • Ensure adequate calcium intake High

    Calcium is fundamental for bone structure and strength; dietary adequacy is critical for those with genetic predisposition to lower bone density.

    Target 1000-1200 mg daily from food sources (dairy, leafy greens, fortified foods)

Discuss with your doctor

  • Bone health management strategy High

    Genetic evidence for lower bone mineral density risk warrants collaborative clinical planning for screening intervals, intervention strategies, and monitoring.

Exercise

  • Regular weight-bearing and resistance exercise High

    Mechanical loading from weight-bearing and resistance activity stimulates bone formation and strengthens bone; especially important for those with genetic BMD risk.

    150 min per week moderate intensity weight-bearing activity plus 2 days per week resistance training

Screening

  • Bone mineral density screening with DEXA High

    Genetic variant associated with reduced bone mineral density; baseline and periodic screening enables early detection of osteoporosis risk.

    Baseline DEXA scan by age 40-45; repeat every 2-3 years if normal

Supplements

  • Vitamin D3 supplementation High

    Vitamin D is essential for calcium absorption and bone mineralization; adequate levels support bone health in those with genetic BMD risk.

    1000-2000 IU daily, or dose guided by 25-OH vitamin D level