Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes
This study suggests rare and low-frequency variants and genes associated with SDR in type 1 diabetes, in particular AFAP1L1, SLC30A9, HPS3, PELI1, and CSMD2. However, further validation is required to confirm their roles and mechanisms.
Authors
- Nadja Vuori (ORCID: https://orcid.org/0000-0003-0549-9819)
- Jani K. Haukka (ORCID: https://orcid.org/0000-0001-5663-0923)
- Anni A. Antikainen (ORCID: https://orcid.org/0000-0003-2488-6830)
- Niina Sandholm (ORCID: https://orcid.org/0000-0003-4322-6942)
- Per-Henrik Groop
- Valma Harjutsalo
Institutions
- University of Helsinki (FI)
- Baker Heart and Diabetes Institute (AU)
- Helsinki University Hospital (FI)
- Folkhälsans Forskningscentrum (FI)
- Monash University (AU)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1167/iovs.66.13.36
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00