Familial normal tension glaucoma genetics

AR Fox, JH Fingert - Progress in retinal and eye research, 2023 - Elsevier
Glaucoma is defined by characteristic optic nerve damage and corresponding visual field
defects and is the leading cause of irreversible blindness in the world. Elevated intraocular …

Polygenic Risk Scores Driving Clinical Change in Glaucoma

A Kolovos, MM Hassall, OM Siggs… - Annual Review of …, 2024 - annualreviews.org
Glaucoma is a clinically heterogeneous disease and the world's leading cause of
irreversible blindness. Therapeutic intervention can prevent blindness but relies on early …

[HTML][HTML] A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma

SS Verma, HV Gudiseva, VRM Chavali, RJ Salowe… - Cell, 2024 - cell.com
Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness
worldwide, disproportionately affects individuals of African ancestry. We conducted a …

[HTML][HTML] Power of inclusion: Enhancing polygenic prediction with admixed individuals

Y Tanigawa, M Kellis - The American Journal of Human Genetics, 2023 - cell.com
Admixed individuals offer unique opportunities for addressing limited transferability in
polygenic scores (PGSs), given the substantial trans-ancestry genetic correlation in many …

[HTML][HTML] Diversity in polygenic risk of primary open-angle glaucoma

JN Cooke Bailey, KL Funk, LA Cruz, AR Waksmunski… - Genes, 2022 - mdpi.com
Glaucoma is the leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common glaucoma subtype, is more prevalent and severe in …

Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study

RK Singh, Y Zhao, T Elze, J Fingert… - JAMA …, 2024 - jamanetwork.com
Importance Primary open-angle glaucoma (POAG) is a highly heritable disease, with 127
identified risk loci to date. Polygenic risk score (PRS) may provide a clinically useful …

Polygenic Risk Scores and Genetically Complex Eye Disease

NQ Le, W He, S MacGregor - Annual Review of Vision Science, 2024 - annualreviews.org
The success of genome-wide association studies (GWASs) in uncovering genetic variants
associated with complex eye diseases has paved the way for the development of risk …

[HTML][HTML] Understanding the complex genetics and molecular mechanisms underlying glaucoma

W Wang, H Wang - Molecular Aspects of Medicine, 2023 - Elsevier
Glaucoma is the leading cause of irreversible blindness worldwide. Currently the only
effective treatment for glaucoma is to reduce the intraocular pressure, which can halt the …

Genetic risk stratification of primary open-angle glaucoma in Japanese individuals

M Akiyama, G Tamiya, K Fujiwara, Y Shiga… - Ophthalmology, 2024 - Elsevier
Purpose To assess the impact of genetic risk estimation for primary open-angle glaucoma
(POAG) in Japanese individuals. Design Cross-sectional analysis. Participants Genetic risk …

Diversity is key for cross-ancestry transferability of glaucoma genetic risk scores in Hispanic Veterans in the Million Veteran Program

AR Waksmunski, TG Kinzy, LA Cruz… - … 2023: Kohala Coast …, 2022 - World Scientific
A major goal of precision medicine is to stratify patients based on their genetic risk for a
disease to inform future screening and intervention strategies. For conditions like primary …