Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus
Four variants in the <i>PLOD1</i>, <i>COL1A1</i>, <i>COL5A2</i>, and <i>COL4A1</i> genes were identified in this study, which are collagen-coding genes and collagen crosslink regulatory genes and may be associated with the origin and development of KC. This study updates the knowledge of genes related to KC and the biomedical implications.
Authors
- Qinghong Lin
- Xiaoyu Zhang (ORCID: https://orcid.org/0000-0003-1201-4808)
- Xuejun Wang (ORCID: https://orcid.org/0000-0002-7034-0460)
- Xingtao Zhou (ORCID: https://orcid.org/0000-0003-4943-7740)
- Xiaoliao Peng
- Tian Han (ORCID: https://orcid.org/0000-0003-3867-9373)
- Ling Sun (ORCID: https://orcid.org/0000-0002-7061-7909)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Fudan University (CN)
- Eye & ENT Hospital of Fudan University (CN)
- He Eye Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-25
- DOI
- https://doi.org/10.3389/fgene.2025.1497915
- Citations
- 1
- Primary Topic
- Corneal surgery and disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.36