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GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans

Dysfunction of the trabecular meshwork (TM) is the chief cause of elevated intraocular pressure, the major risk factor of glaucoma. Here, the authors identify the transcription factor, GLIS1, as a critical regulator of TM maintenance and intraocular pressure, and as a glaucoma risk gene.

K. Saidas Nair
Chitrangda Srivastava
Anton M. Jetten
ResearchOpen Access12 Aug 2021
Nature Communications

Volume: 12, P: 1-15
A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

Primary open-angle glaucoma (POAG) leads to progressive vision loss. Here, Choquet et al. perform genome-wide association analysis for POAG in a multi-ethnic cohort, identify a total of nine novel genetic loci and show relevant function of FMNL2 and LMX1B using cell line and mouse experiments.

Hélène Choquet
Seyyedhassan Paylakhi
Eric Jorgenson
ResearchOpen Access11 Jun 2018
Nature Communications

Volume: 9, P: 1-14
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.

Puya Gharahkhani
Eric Jorgenson
Janey L. Wiggs
ResearchOpen Access24 Feb 2021
Nature Communications

Volume: 12, P: 1-16
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

Simon John and Mounira Hmani-Aifa and colleagues show that mutation of the serine protease gene Prss56 causes elevated intraocular pressure and angle closure glaucoma in mice. They also identified PRSS56 mutations that cause posterior microphthalmia in humans.

K Saidas Nair
Mounira Hmani-Aifa
Simon W M John
Research01 May 2011
Nature Genetics

Volume: 43, P: 579-584
A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

The genetic basis of cataract is not well understood. Here, the authors perform a genome-wide association multiethnic meta-analysis of cataract, finding 37 new loci and replicating known and new loci. They additionally perform sex-specific analyses, identifying new associations specific to women.

Hélène Choquet
Ronald B. Melles
Eric Jorgenson
ResearchOpen Access14 Jun 2021
Nature Communications

Volume: 12, P: 1-12
A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

Intraocular pressure (IOP) is a major risk factor for glaucoma. Here, Choquet and co-authors perform a multi-ethnic genome-wide association study of repeat IOP measurements in 69,756 individuals and identify 40 novel loci, 36 of which show directionally consistent effects in glaucoma.

Hélène Choquet
Khanh K. Thai
Eric Jorgenson
ResearchOpen Access13 Dec 2017
Nature Communications

Volume: 8, P: 1-9
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

The molecular and cellular causes of glaucoma are not well understood. Here, the authors integrate GWAS with genetic regulation and single cell expression from multiple eye tissues to identify genes and key cell types that affect glaucoma pathogenesis.

Andrew R. Hamel
Wenjun Yan
Ayellet V. Segrè
ResearchOpen Access09 Jan 2024
Nature Communications

Volume: 15, P: 1-25
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

Hélène Choquet et al. report the largest genome-wide analysis of central corneal thickness (CCT) to date, finding novel associations at 41 loci. The study, which includes individuals from 4 ethnic groups, including African Americans and Hispanic/Latino individuals, increases the variance explained for CCT from 8.5% to 14.2%. Study findings also suggest that thinner CCT does not causally increase the risk of primary open-angle glaucoma.

Hélène Choquet
Ronald B. Melles
Eric Jorgenson
ResearchOpen Access11 Jun 2020
Communications Biology

Volume: 3, P: 1-10
ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Rare variant association data from human genetics combined with in vitro and in vivo functional validation highlight ANGPTL7 as a promising therapeutic target for intraocular pressure reduction, and protection from glaucoma.

Kavita Praveen
Gaurang C. Patel
Giovanni Coppola
ResearchOpen Access03 Oct 2022
Communications Biology

Volume: 5, P: 1-15

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GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans

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

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

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

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