Bibliographic Details
| Title: |
Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma. |
| Authors: |
Diaz-Torres, Santiago, He, Weixiong, Yu, Regina, Han, Xikun, Hamel, Andrew R., Young, Terri L., Lotery, Andrew J., Jorgenson, Eric, Choquet, Hélène, Hauser, Michael, Cooke Bailey, Jessica N., Nakazawa, Toru, Shiga, Yukihiro, Segrè, Ayellet V., Khawaja, Anthony P., Hammond, Christopher J., Hysi, Pirro G., Pasquale, Louis R., Wu, Yeda, Kubo, Michiaki |
| Source: |
Nature Communications; 11/17/2024, Vol. 15 Issue 1, p1-9, 9p |
| Subject Terms: |
OPEN-angle glaucoma, INTRAOCULAR pressure, DRUG target, GLAUCOMA, NEUROPROTECTIVE agents |
| Abstract: |
Primary open-angle glaucoma typically presents as two subtypes. This study aimed to elucidate the shared and distinct genetic architectures of normal-tension (NTG) and high-tension glaucoma (HTG), motivated by the need to develop intraocular pressure (IOP)-independent drug targets for the disease. We conducted a comprehensive multi-ethnic meta-analysis, prioritized variants based on functional annotation, and explored drug-gene interactions. We further assessed the genetic overlap between NTG and HTG using pairwise GWAS analysis. We identified 22 risk loci associated with NTG, 17 of which have not previously been reported for NTG. Two loci, BMP4 and TBKBP1, have not previously been associated with glaucoma at the genome-wide significance level. Our results indicate that while there is a significant overlap in risk loci between tension subtypes, the magnitude of the effect tends to be lower in NTG compared to HTG, particularly for IOP-related loci. Additionally, we identified a potential role for biologic immunomodulatory treatments as neuroprotective agents. This study investigates the genetic similarities and differences between two subtypes of glaucoma (normal tension and high tension). Multi-ethnic meta-analysis reveals overlapping risk loci, with a lower effect magnitude in normal tension glaucoma. The authors also use their gene discovery approach to highlight possible neuro-protective drug targets for glaucoma. [ABSTRACT FROM AUTHOR] |
|
Copyright of Nature Communications is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| Database: |
Complementary Index |
