Evidence map›Paper›PMID 28505344›Full record

ReviewHuman molecular genetics2017

Genetics of glaucoma.

Janey L Wiggs, Louis R Pasquale

Open access · bronzeAbstract readReview
In one paragraph

Review in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 195 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
195citing papers in PubMed, 10 pooled it
22.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

195 citing papers in PubMed, 10 syntheses or guidelines pooled it, 371 citations in OpenAlex.

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  20. Special Issue "Advances in and Insights into the Treatment of Glaucoma".International journal of molecular sciences · 2025
    Article

135 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Janey L WiggsDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear, Boston, MA 02114, USA.
Louis R PasqualeDepartment of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear, Boston, MA 02114, USA.
Harvard University · US

Funding

Gene-Environment Interactions in GlaucomaR01EY015473 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI PASQUALE, LOUIS ROBERT · 2005 to 2021
$8.3M
The NEIGHBORHOOD: POAG Heritable Overall Operational DatabaseR01EY022305 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI WIGGS, JANEY L · 2012 to 2025
$7.9M
Genetic and Environmental Risk Factors for Exfoliation Syndrome and GlaucomaR01EY020928 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI KANG, JAE H, WIGGS, JANEY L · 2011 to 2025
$7.3M
NEI NIH HHS R01 EY015473NEI NIH HHS R01 EY020928NEI NIH HHS R01 EY022305
6 · The paper itself

Abstract

Genetic and genomic studies, including genome-wide association studies (GWAS) have accelerated the discovery of genes contributing to glaucoma, the leading cause of irreversible blindness world-wide. Glaucoma can occur at all ages, with Mendelian inheritance typical for the rare early onset disease (before age 40) and complex inheritance evident in common adult-onset forms of disease. Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular events caused by MYOC, OPTN and TBK1 mutations. Diagnostic genetic tests using early-onset glaucoma genes are also proving useful for pre-symptomatic disease detection and genetic counseling. Recent GWAS completed for three types of common adult-onset glaucoma have identified novel loci for POAG (primary-open-angle glaucoma) (ABCA1, AFAP1, GMDS, PMM2, TGFBR3, FNDC3B, ARHGEF12, GAS7, FOXC1, ATXN2, TXNRD2); PACG (primary angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A). In total sixteen genomic regions have been associated with POAG (including the normal tension glaucoma (NTG) subgroup), 8 with PACG and 2 with XFS. These studies are defining important biological pathways and processes that contribute to disease pathogenesis.

Indexed as

Asymptomatic DiseasesEye ProteinsGenetic Predisposition to DiseaseGenetic TestingGenome-Wide Association StudyGlaucomaGlaucoma, Open-AngleHumansIntraocular PressureMutationRisk FactorsEye Proteins

Identifiers

PMID28505344
PMCPMC6074793
OpenAlexW2499240546

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.