Pathogenic SGMS2 variants are not a common cause of early-onset osteoporosis among Finnish patients
Our results suggest that pathogenic variants in <i>SGMS2</i> are not a common cause of early-onset idiopathic osteoporosis in Finnish patients. Further studies in larger cohorts and variable skeletal phenotypes are needed to increase our understanding of the role of <i>SGMS2</i> in skeletal fragility.
Authors
- Tuukka Niinimäki
- Riikka E. Mäkitie (ORCID: https://orcid.org/0000-0002-2907-3348)
- Minna Pekkinen (ORCID: https://orcid.org/0000-0003-2947-4683)
- Petra Loid (ORCID: https://orcid.org/0000-0002-2708-0878)
- Sampo Richardt
- Outi Mäkitie
Institutions
- Karolinska University Hospital (SE)
- University of Helsinki (FI)
- Oulu University Hospital (FI)
- Helsinki University Hospital (FI)
- Karolinska Institutet (SE)
- Helsinki Children's Hospital (FI)
- Institute of Genetics (HU)
- Folkhälsans Forskningscentrum (FI)
- University of Oulu (FI)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2026-02-25
- DOI
- https://doi.org/10.3389/fendo.2026.1719375
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Suomen Lääketieteen Säätiö
- Wilhelm och Else Stockmanns Stiftelse
- Folkhälsanin Tutkimussäätiö
- Korvatautien Tutkimussäätiö
- Jane ja Aatos Erkon Säätiö
- Novo Nordisk
- Samfundet Folkhälsan