Abstract
Reply:
We thank Drs Guo and Chen for their interest in our article and appreciate the opportunity to respond to their correspondence.
First, Guo and Chen raise the potential for conflation of shared pathways between pseudoexfoliation (PEX) and glaucoma pathogenesis in our polygenic risk score (PRS). Although variants at ABCA1 and LMX1B may influence multiple biological pathways, this does not invalidate the usefulness of PRS in capturing glaucoma risk. Rather, it reflects the polygenic and pleiotropic nature of complex traits. Use of the PRS does not require mechanistic isolation of each variant’s effect; instead, it operates at a probabilistic level to quantify inherited risk across the genome...
We thank Drs Guo and Chen for their interest in our article and appreciate the opportunity to respond to their correspondence.
First, Guo and Chen raise the potential for conflation of shared pathways between pseudoexfoliation (PEX) and glaucoma pathogenesis in our polygenic risk score (PRS). Although variants at ABCA1 and LMX1B may influence multiple biological pathways, this does not invalidate the usefulness of PRS in capturing glaucoma risk. Rather, it reflects the polygenic and pleiotropic nature of complex traits. Use of the PRS does not require mechanistic isolation of each variant’s effect; instead, it operates at a probabilistic level to quantify inherited risk across the genome...
| Original language | English |
|---|---|
| Pages (from-to) | e155-e156 |
| Number of pages | 2 |
| Journal | Ophthalmology |
| Volume | 132 |
| Issue number | 9 |
| DOIs | |
| Publication status | Published - Sept 2025 |
Keywords
- glaucoma
- PGS
- POAG
- polygenic risk score
- polygenic score
- PRS