Shared Genetic Architecture and Causal Relationship Between Serum 25-Hydroxyvitamin D and Bone Mineral Density
Authors' conclusion
This study illuminates the potential health benefits of enhancing serum 25OHD levels to mitigate the risk of osteoporosis among men and individuals older than 65 years. It also unveils a shared genetic basis between serum 25OHD and eBMD, offering valuable insights into the intricate biological pathways.
Study context
- Population
- European individuals; GWAS of serum 25OHD and estimated heel bone mineral density (BMD) (eBMD, N = 426,824); UK BiobankGWAS of serum 25OHD 417,580
- Comparison
- Serum 25OHD vs eBMD: shared genetics and causality
- Outcome
- Shared genetic architecture and causal relationship between serum 25OHD and eBMD
Methodological detailstwo-sample mendelian randomization, one-sample mendelian randomization, UK Biobank individual-level data, GWAS summary-level data, European individuals
- Two-sample mendelian randomization
- One-sample mendelian randomization
- UK Biobank individual-level data
- GWAS summary-level data, European individuals
Main finding
As reported in the abstract
- Global genetic correlation (rg)
- −0.001; P = .95
- Significant local genetic signal
- 5p11-5q11.9
- Two-sample mendelian randomization (MR), overall population (β, 95% CI)
- .003, −0.04 to 0.03; P = .93
- One-sample MR, males (β, 95% CI)
- .005, 0.00 to 0.01; P = .03
- One-sample MR, older individuals (β, 95% CI)
- .009, 0.00∼0.02; P = .01
Further findings
Pleiotropic single-nucleotide variations (SNVs) and gene-tissue overlap
- Pleiotropic SNVs identified
- 49
- Novel SNVs (rs1077151, rs79873740, rs12150353, rs4760401)
- 4
- Overlapping gene-tissue pairs, mainly nervous, digestive, exocrine/endocrine and cardiovascular systems
- 95
- Protein-protein interaction analysis hub genes: RPS9 and RPL7A
Original publication
Shared Genetic Architecture and Causal Relationship Between Serum 25-Hydroxyvitamin D and Bone Mineral Density. J Clin Endocrinol Metab. Published 21 October 2024. doi:10.
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