Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy
PURPOSE: To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital-based and large biobank cohorts. METHODS: patients, we performed exome-based candidate gene analysis. We also utilised FinnGen biobank-based samples to perform a genome-wide association study (GWAS). RESULTS: carriers identified a candidate gene variant, AGBL1 c.901 + 2 T>G in one patient. CONCLUSION: expansion is a significant risk factor for FECD. A nearby single-nucleotide polymorphism (SNP) was found to perform well as a surrogate for genotyping. However, not all patients carried the expanded repeat, and a variant in a previously associated gene was observed in a single patient. Further research is needed to investigate the origins of FECD in individuals without the repeat expansion.
Authors
- Annamari Immonen (ORCID: https://orcid.org/0000-0001-8264-945X)
- Hannes Lohi (ORCID: https://orcid.org/0000-0003-1087-5532)
- Joni A. Turunen (ORCID: https://orcid.org/0000-0002-9569-9146)
- Kari Krootila
- Maria Kaukonen (ORCID: https://orcid.org/0000-0002-2146-4694)
- Inka‐Tuulevi Pettinen (ORCID: https://orcid.org/0000-0002-7632-3936)
- T KIVELÄ
- J T Ramo
- Aarno Palotie
- Aino M. Jaakkola
- FinnGen
Institutions
- Broad Institute (US)
- Massachusetts Eye and Ear Infirmary (US)
- University of Helsinki (FI)
- Helsinki University Hospital (FI)
- Massachusetts General Hospital (US)
- Institute for Molecular Medicine Finland (FI)
- Institute of Genetics (HU)
- Folkhälsans Forskningscentrum (FI)
- Hospital District of Helsinki and Uusimaa (FI)
Publication Details
- Journal
- Acta Ophthalmologica
- Published
- 2026-04-20
- DOI
- https://doi.org/10.1111/aos.70144
- Primary Topic
- Corneal surgery and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Mary och Georg C. Ehrnrooths Stiftelse
- Sigrid Juséliuksen Säätiö
- Evald ja Hilda Nissin Säätiö
- Silmä- ja kudospankkisäätiö