Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration
Johanna M. Seddon, Dikha De, William Casazza, Shun-Yun Cheng, Claudio Punzo, Mark Daly, Danlei Zhou, Samantha L. Coss, John P. Atkinson, Chack-Yung Yu · 2024
Read Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration by Johanna M. Seddon, Dikha De, William Casazza, Shun-Yun Cheng, Claudio Punzo, Mark Daly, Danlei Zhou, Samantha L. Coss, John P. Atkinson, Chack-Yung Yu (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10859408.txt.
Description
Johanna Seddon and co-authors hunt, in a 2023 study, for gene variants that sway the risk of age-related macular degeneration. The disease eats the center of sight in older adults and is the leading cause of that loss. About a third of its genetic contribution was still unexplained. The team read sequencing data from two groups, with over four thousand cases.
They found eleven rare variants tied to the disease. Two sit in C4A, a gene for a complement protein, part of immune defense. One swaps residues that set a blood group mark and raises risk (odds ratio 1.7). A second, novel variant in the same gene lowers risk. Eye tissue stains show the protein pooled near vessels of the retina and in the deposits that mark early disease. The authors place this defense pathway near the heart of the disease.
Catalog record
| CREATOR | Johanna M. Seddon, Dikha De, William Casazza, Shun-Yun Cheng, Claudio Punzo, Mark Daly, Danlei Zhou, Samantha L. Coss, John P. Atkinson, Chack-Yung Yu |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 44 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |