Evidence map›Paper›PMID 33605984›Full record

ArticleInvestigative ophthalmology & visual science2021

The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans.

Brian S Cole, Harini V Gudiseva, Maxwell Pistilli, Rebecca Salowe, Caitlin P McHugh, Michael C Zody, Venkata R M Chavali, Gui Shuang Ying, Jason H Moore, Joan M O'Brien

Open access · goldAbstract readMulticenter Study
In one paragraph

Article in Investigative ophthalmology & visual science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 2 pooled it
5.1field-weighted citation impact, top 4% 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

17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.

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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

10 authors at 3 institutions in 1 country.

Brian S ColeInstitute for Biomedical Informatics, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Harini V GudisevaScheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Maxwell PistilliScheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Rebecca SaloweScheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Caitlin P McHughNew York Genome Center, New York City, New York, United States.
Michael C ZodyNew York Genome Center, New York City, New York, United States.
Venkata R M ChavaliScheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Gui Shuang YingScheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Jason H MooreInstitute for Biomedical Informatics, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Joan M O'BrienScheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
University of Pennsylvania · USPenn Presbyterian Medical Center · USNew York Genome Center · US

Funding

Scientific TransparencyP30EY001583 · NEI · UNIVERSITY OF PENNSYLVANIA · PI CLAIRE H MITCHELL · 1985 to 2026
$19.5M
Primary Open Angle African-American Glaucoma Genetics Study RenewalR01EY023557 · NEI · UNIVERSITY OF PENNSYLVANIA · PI O'BRIEN, JOAN M · 2014 to 2025
$18.1M
Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1M
Deciphering the role of lipid metabolism pathways in the RPE and their implications for AMDR21EY028273 · NEI · UNIVERSITY OF PENNSYLVANIA · PI CHAVALI, VENKATA RAMANA MURTHY · 2018 to 2019
$443k
NEI NIH HHS P30 EY001583NEI NIH HHS R01 EY023557NEI NIH HHS R21 EY028273NLM NIH HHS R01 LM010098
6 · The paper itself

Abstract

Purpose: POAG is the leading cause of irreversible blindness in African Americans. In this study, we quantitatively assess the association of autosomal ancestry with POAG risk in a large cohort of self-identified African Americans. Methods: Subjects recruited to the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study were classified as glaucoma cases or controls by fellowship-trained glaucoma specialists. POAAGG subjects were genotyped using the MEGA Ex array (discovery cohort, n = 3830; replication cohort, n = 2135). Population structure was interrogated using principal component analysis in the context of the 1000 Genomes Project superpopulations. Results: The majority of POAAGG samples lie on an axis between African and European superpopulations, with great variation in admixture. Cases had a significantly lower mean value of the ancestral component q0 than controls for both cohorts (P = 6.14-4; P = 3-6), consistent with higher degree of African ancestry. Among POAG cases, higher African ancestry was also associated with thinner central corneal thickness (P = 2-4). Admixture mapping showed that local genetic ancestry was not a significant risk factor for POAG. A polygenic risk score, comprised of 23 glaucoma-associated single nucleotide polymorphisms from the NHGRI-EBI genome-wide association study catalog, was significant in both cohorts (P < 0.001), suggesting that both known POAG single nucleotide polymorphisms and an omnigenic ancestry effect influence POAG risk. Conclusions: In sum, the POAAGG study population is very admixed, with a higher degree of African ancestry associated with an increased POAG risk. Further analyses should consider social and environmental factors as possible confounding factors for disease predisposition.

Indexed as

Polymorphism, Single NucleotidePopulation SurveillanceVisual AcuityAdultBlack or African AmericanFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeGlaucoma, Open-AngleHumansIncidenceIntraocular PressureMaleRisk FactorsUnited States

Identifiers

PMID33605984
PMCPMC7900887
OpenAlexW3131822128

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.