Genetics of glaucoma

JL Wiggs, LR Pasquale - Human molecular genetics, 2017 - academic.oup.com
Genetic and genomic studies, including genome-wide association studies (GWAS) have
accelerated the discovery of genes contributing to glaucoma, the leading cause of …

Major review: Molecular genetics of primary open-angle glaucoma

Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …

[HTML][HTML] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo… - Cell Genomics, 2022 - cell.com
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

MS Tedja, R Wojciechowski, PG Hysi, N Eriksson… - Nature …, 2018 - nature.com
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an
increasingly common cause of blindness. This genome-wide association meta-analysis in …

[HTML][HTML] The Rotterdam Study: 2016 objectives and design update

A Hofman, GGO Brusselle, SD Murad… - European journal of …, 2015 - Springer
Abstract The Rotterdam Study is a prospective cohort study ongoing since 1990 in the city of
Rotterdam in The Netherlands. The study targets cardiovascular, endocrine, hepatic …

[HTML][HTML] 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 …

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

H Springelkamp, AI Iglesias, A Mishra… - Human molecular …, 2017 - academic.oup.com
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable
disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease …

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

Y Shiga, M Akiyama, KM Nishiguchi… - Human molecular …, 2018 - academic.oup.com
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness
worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 …

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

T Aung, M Ozaki, MC Lee, U Schlötzer-Schrehardt… - Nature …, 2017 - nature.com
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma
and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A …

Role of the Rho GTPase/Rho kinase signaling pathway in pathogenesis and treatment of glaucoma: Bench to bedside research

PV Rao, PP Pattabiraman, C Kopczynski - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Elevated intraocular
pressure (IOP) is considered to be a predominant risk factor for primary open angle …