Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women
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.
Authors
- Raquel Rabionet (ORCID: https://orcid.org/0000-0001-5006-8140)
- Susana Balcells (ORCID: https://orcid.org/0000-0003-1211-1907)
- Núria Martínez‐Gil (ORCID: https://orcid.org/0000-0002-9987-2858)
- Daniel Grinberg (ORCID: https://orcid.org/0000-0001-9859-2590)
- Diana Ovejero (ORCID: https://orcid.org/0000-0003-1312-4750)
- Leonardo Mellibovsky (ORCID: https://orcid.org/0009-0001-7921-8840)
- Xavier Nogués (ORCID: https://orcid.org/0000-0002-5537-1859)
- Natalia García‐Giralt (ORCID: https://orcid.org/0000-0001-6507-0147)
- Juan David Patiño-Salazar
- Estefanía Alcaide-Consuegra (ORCID: https://orcid.org/0000-0002-2172-2534)
- M. Gabernet
Institutions
- Instituto de Salud Carlos III (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Osteoporosis International
- Published
- 2025-02-07
- DOI
- https://doi.org/10.1007/s00198-025-07413-4
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Centro de Investigación Biomédica en Red Fragilidad y Envejecimiento Saludable
- European Commission
- Ministerio de Ciencia e Innovación
- Universitat de Barcelona
- Agència de Gestió d'Ajuts Universitaris i de Recerca
- Instituto de Salud Carlos III