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Title: | GWAS-by-subtraction reveals an IOP-independent component of primary open angle glaucoma | Authors: | Huang, Y Plotnikov, D Wang, H Shi, D Li, C Zhang, X Zhang, X Tang, S Shang, X Hu, Y Yu, H Zhang, H Guggenheim, JA He, M |
Issue Date: | 2024 | Source: | Nature communications, 2024, v. 15, 8962 | Abstract: | The etiology of primary open angle glaucoma is constituted by both intraocular pressure-dependent and intraocular pressure-independent mechanisms. However, GWASs of traits affecting primary open angle glaucoma through mechanisms independent of intraocular pressure remains limited. Here, we address this gap by subtracting the genetic effects of a GWAS for intraocular pressure from a GWAS for primary open angle glaucoma to reveal the genetic contribution to primary open angle glaucoma via intraocular pressure-independent mechanisms. Seventeen independent genome-wide significant SNPs were associated with the intraocular pressure-independent component of primary open angle glaucoma. Of these, 7 are located outside known normal tension glaucoma loci, 11 are located outside known intraocular pressure loci, and 2 are novel primary open angle glaucoma loci. The intraocular pressure-independent genetic component of primary open angle glaucoma is associated with glaucoma endophenotypes, while the intraocular pressure-dependent component is associated with blood pressure and vascular permeability. A genetic risk score for the intraocular pressure-independent component of primary open angle glaucoma is associated with 26 different retinal micro-vascular features, which contrasts with the genetic risk score for the intraocular pressure-dependent component. Increased understanding of these intraocular pressure-dependent and intraocular pressure-independent components provides insights into the pathogenesis of glaucoma. | Publisher: | Nature Publishing Group | Journal: | Nature communications | EISSN: | 2041-1723 | DOI: | 10.1038/s41467-024-53331-0 | Rights: | Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/. © The Author(s) 2024. The following publication Huang, Y., Plotnikov, D., Wang, H. et al. GWAS-by-subtraction reveals an IOP-independent component of primary open angle glaucoma. Nat Commun 15, 8962 (2024) is available at https://dx.doi.org/10.1038/s41467-024-53331-0. |
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