GWAS-by-subtraction reveals an IOP-independent component of primary open angle glaucoma

全基因组关联研究 开角型青光眼 青光眼 组分(热力学) 小学(天文学) 减法 眼科 计算生物学 生物 医学 物理 遗传学 数学 天文 算术 基因 基因型 热力学 单核苷酸多态性
作者
Yu Huang,Denis Plotnikov,Li Wang,Danli Shi,Cong Li,Xueli Zhang,Xiayin Zhang,Shulin Tang,Xianwen Shang,Yijun Hu,Honghua Yu,Hongyang Zhang,Jeremy A. Guggenheim,Mingguang He
出处
期刊:Nature Communications [Nature Portfolio]
卷期号:15 (1)
标识
DOI:10.1038/s41467-024-53331-0
摘要

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.
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