Genomic structural variations link multiple genes to bone mineral density in a multi-ethnic cohort study: Louisiana osteoporosis study
Authors' conclusion
Our study uncovers new insights into genetic factors influencing BMD through SV analysis. We highlight BMD-related SVs, revealing a mix of shared and specific genetic influences across skeletal sites and gender or ethnicity.
Study context
- Population
- Subjects from the Louisiana Osteoporosis Study (multi-ethnic cohort)
- Participants
- 4,982 subjects
- Outcome
- Association of genomic SVs with BMD at hip (HIP), femoral neck (FNK) and lumbar spine (SPN)
Methodological detailswhole genome sequencing, multi-ethnic cohort, ensemble SV detection, multi-omics co-occurrence analysis, sex- and ethnicity-stratified analyses
- Whole genome sequencing
- Multi-ethnic cohort
- Ensemble SV detection
- Multi-omics co-occurrence analysis
- Sex- and ethnicity-stratified analyses
Main finding
As reported in the abstract
Significant SV-BMD associations
Significant SV associations with FNK-BMD
125
Significant SV associations with SPN-BMD
99
Significant SV associations with HIP-BMD
83
BMD variation explained by these structural variations (SVs)
13.3% to 19.1%
Observational data: associations, not effects.
Further findings
Gene prioritization
- Potential causal genes for osteoporosis: IBSP and SPP1
- 2
- Novel bone-related genes: LINC02370, ZNF family genes, ZDHHC family genes
- FMN2 (BMD-related deletions) associated with femoral neck (FNK) or hip (HIP) BMDs, with sex-specific effects
- Co-occurrence analysis prioritized RNA gene LINC00494 and ZNF family genes, positively associated with BMDs at different skeletal sites
Original publication
Genomic structural variations link multiple genes to bone mineral density in a multi-ethnic cohort study: Louisiana osteoporosis study. J Bone Miner Res. Published 21 August 2024. doi:10.
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