Exome-wide screening identifies novel rare risk variants for bone mineral density
Authors' conclusion
Our study suggested that rare variants contribute to BMD, providing new sights for broadening the genetic structure of BMD.
Study context
- Population
- UK Biobank participants with bone mineral density (BMD) values (100,639 males and 117,338 females in the polygenic risk scores (PRS) analysis)741 males and 697 females in BMD analysis
- Comparison
- Individuals with top 10% BMD (cases) vs bottom 10% BMD (controls), among individuals with lower 30% PRS
- Outcome
- Gene-based burden association of rare exonic variants with BMD
Methodological detailsUK Biobank 200,643 exome dataset, sex-stratified (males and females analysed separately), extreme-phenotype selection within lower 30% PRS, gene-based burden tests (SKAT R-package), Bonferroni adjustment
- UK Biobank 200,643 exome dataset
- Sex-stratified (males and females analysed separately)
- Extreme-phenotype selection within lower 30% PRS
- Gene-based burden tests (SKAT R-package)
- Bonferroni adjustment
Main finding
As reported in the abstract
Gene-based burden test of exonic variants, BMD analysis
- ANKRD18A
- P = 1.60 × 10-5, PBonferroni adjust = 2.11 × 10-3
- C22orf31
- P = 3.49 × 10-4, PBonferroni adjust = 3.17 × 10-2
- SPATC1L
- P = 1.09 × 10-5, PBonferroni adjust = 8.80 × 10-3
Further findings
VD-BMD analysis (individuals with highest 30% vitamin D (VD) concentration; 717 males and 708 females)
- Three genes associated with BMD
- 3
- NIPAL1
- P = 1.06 × 10-3, PBonferroni adjust = 3.91 × 10-2
Original publication
Exome-wide screening identifies novel rare risk variants for bone mineral density. Osteoporos Int. Published 28 February 2023. doi:10.
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