A longitudinal genome-wide association study of bone mineral density mean and variability in the UK Biobank
Authors' conclusion
Our findings indicated that the CPED1-WNT16-FAM3C locus plays a significant role in BMD mean trajectories and identified several novel candidate genes contributing to BMD within-subject variability, facilitating the understanding of the genetic architecture of BMD.
Study context
- Population
- White UK Biobank participants with heel bone mineral density (BMD) phenotype dataUK Biobank
- Participants
- 141,261 participants
- Outcome
- Genetic associations with BMD trajectory mean and within-subject variability
Methodological detailslongitudinal, genome-wide trajectory analysis (TrajGWAS), replication in Asian participants, gene-set enrichment analysis (FUMA)
- Longitudinal
- Genome-wide trajectory analysis (TrajGWAS)
- Replication in Asian participants
- Gene-set enrichment analysis (FUMA)
Main finding
As reported in the abstract
- Genes associated with BMD trajectory mean
- 52
- WNT16
- P = 1.31 × 10-126
- FAM3C
- P = 4.18 × 10-108
- CPED1
- P = 8.48 × 10-106
- Genes associated with BMD within-subject variability
- 114
- AC092079.1
- P = 2.72 × 10-13
- RGS7
- P = 4.72 × 10-10
Observational data: associations, not effects.
Further findings
Validation and replication
- Associations confirmed in previous genome-wide association study (GWASs) and replicated in Asian participants
Gene-set enrichment analysis (GSEA) of BMD change
- SKELETAL SYSTEM DEVELOPMENT
- Padjusted = 2.45 × 10-3
- REGULATION OF OSSIFICATION
- Padjusted = 2.45 × 10-3
- KEGG: genes mainly enriched in WNT SIGNALING PATHWAY
Original publication
A longitudinal genome-wide association study of bone mineral density mean and variability in the UK Biobank. Osteoporos Int. Published 27 July 2023. doi:10.
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