Electronic health records and polygenic risk scores for predicting disease risk

R Li, Y Chen, MD Ritchie, JH Moore - Nature Reviews Genetics, 2020 - nature.com
Accurate prediction of disease risk based on the genetic make-up of an individual is
essential for effective prevention and personalized treatment. Nevertheless, to date …

Pathogenesis of glaucoma: Extracellular matrix dysfunction in the trabecular meshwork‐A review

KE Keller, DM Peters - Clinical & experimental ophthalmology, 2022 - Wiley Online Library
The trabecular meshwork regulates aqueous humour outflow from the anterior chamber of
the eye. It does this by establishing a tunable outflow resistance, defined by the interplay …

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

P Gharahkhani, E Jorgenson, P Hysi… - Nature …, 2021 - nature.com
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-
wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

CV Van Hout, I Tachmazidou, JD Backman… - Nature, 2020 - nature.com
The UK Biobank is a prospective study of 502,543 individuals, combining extensive
phenotypic and genotypic data with streamlined access for researchers around the world …

Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma

AP Khawaja, JN Cooke Bailey, NJ Wareham… - Nature …, 2018 - nature.com
Glaucoma is the leading cause of irreversible blindness globally. Despite its gravity, the
disease is frequently undiagnosed in the community. Raised intraocular pressure (IOP) is …

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

H Choquet, S Paylakhi, SC Kneeland, KK Thai… - Nature …, 2018 - nature.com
Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss, yet
much of the genetic risk remains unaccounted for, especially in African-Americans who have …

Microvascular and macrovascular complications of type 2 diabetes mellitus: Exome wide association analyses

A Mansour, M Mousa, D Abdelmannan, G Tay… - Frontiers in …, 2023 - frontiersin.org
Background Type 2 diabetes mellitus (T2DM) is a chronic, metabolic disorder in which
concomitant insulin resistance and β-cell impairment lead to hyperglycemia, influenced by …

The genetic basis for adult onset glaucoma: recent advances and future directions

Z Wang, JL Wiggs, T Aung, AP Khawaja… - Progress in Retinal and …, 2022 - Elsevier
Glaucoma, a diverse group of eye disorders that results in the degeneration of retinal
ganglion cells, is the world's leading cause of irreversible blindness. Apart from age and …

[HTML][HTML] Omidenepag isopropyl versus latanoprost in primary open-angle glaucoma and ocular hypertension: the phase 3 AYAME study

M Aihara, F Lu, H Kawata, A Iwata… - American Journal of …, 2020 - Elsevier
Purpose To evaluate the efficacy and safety of omidenepag isopropyl (OMDI), a selective,
non-prostaglandin, prostanoid EP2 receptor agonist, in Japanese patients with primary open …

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

CV Van Hout, I Tachmazidou, JD Backman… - BioRxiv, 2019 - biorxiv.org
The UK Biobank is a prospective study of 502,543 individuals, combining extensive
phenotypic and genotypic data with streamlined access for researchers around the world …