Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women
Authors' conclusion
The variant identified in COL1A2 in a woman from the LZ group highlights the genetic overlap between monogenic diseases such as osteogenesis imperfecta and complex diseases like osteoporosis. However, the other variants were not clearly associated with the extreme BMD, suggesting that there is little contribution of rare variants to postmenopausal osteoporosis.
Study context
- Population
- Postmenopausal women from the population-based BARCOS cohort with extreme bone mineral density (BMD) values
- Participants
- 104 DNA samples
- Exposure
- Women with highest LS Z-scores vs lowest LS Z-scores
- Outcome
- Rare variants (MAF < 0.01) in genes related to monogenic bone disorders
Methodological detailstargeted sequencing of extreme-phenotype groups, population-based cohort (BARCOS), extreme BMD phenotypes, targeted capture massive sequencing of 127-gene panel
- Targeted sequencing of extreme-phenotype groups
- Population-based cohort (BARCOS)
- Extreme BMD phenotypes
- Targeted capture massive sequencing of 127-gene panel
Main finding
As reported in the abstract
Rare variants with CADD > 25 present only in one group
LZ
5
events
HZ
1
events
- Variants detected in total
- 6
Observational data: associations, not effects.
Original publication
Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women. Osteoporos Int. Published 7 February 2025. doi:10.
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