Developing and validating a comprehensive polygenic risk score to enhance keratoconus risk prediction
The PRS models enhanced prediction of keratoconus risk, even with corneal measurements, showing potential for clinical use to identify individuals at high risk of keratoconus, and potentially help reduce the risk of post-LASIK ectasia.
Authors
- Puya Gharahkhani (ORCID: https://orcid.org/0000-0002-4203-5952)
- Teele Palumaa
- Stuart MacGregor (ORCID: https://orcid.org/0000-0001-6731-8142)
- Santiago Díaz‐Torres (ORCID: https://orcid.org/0000-0002-5442-9211)
- Alex William Hewitt (ORCID: https://orcid.org/0000-0002-5123-5999)
- David A. Mackey (ORCID: https://orcid.org/0000-0001-7914-4709)
- Jue‐Sheng Ong (ORCID: https://orcid.org/0000-0002-6062-710X)
- Urmo Võsa (ORCID: https://orcid.org/0000-0003-3476-1652)
- Weixiong He (ORCID: https://orcid.org/0000-0001-9567-2472)
- Tõnu Esko
Institutions
- Lions Eye Institute (AU)
- University of Tasmania (AU)
- University Medical Center Groningen (NL)
- Emory University (US)
- Queensland University of Technology (AU)
- The University of Queensland (AU)
- The University of Melbourne (AU)
- The University of Western Australia (AU)
- QIMR Berghofer Medical Research Institute (AU)
- East Tallinn Central Hospital (EE)
- Centre for Eye Research Australia (AU)
- Victoria Park (CA)
- Estonian Biocentre (EE)
- University of Tartu (EE)
Publication Details
- Journal
- Human Molecular Genetics
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1093/hmg/ddae157
- Citations
- 1
- Primary Topic
- Corneal surgery and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.40