Evidence map›Paper›PMID 24146900›Full record

ArticlePloS one2013

Mitochondrial sequence variation in African-American primary open-angle glaucoma patients.

David W Collins, Harini V Gudiseva, Benjamin T Trachtman, Matthew Jerrehian, Thomasine Gorry, William T Merritt, Allison L Rhodes, Prithvi S Sankar, Meredith Regina, Eydie Miller-Ellis and 1 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.0field-weighted citation impact, top 14% 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, 28 citations in OpenAlex.

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  17. Extranuclear DNA Variations in the Susceptibility of Glaucoma.Middle East African journal of ophthalmology
    Review
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

11 authors at 2 institutions in 1 country.

David W CollinsDepartment of Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
Harini V Gudiseva
Benjamin T Trachtman
Matthew Jerrehian
Thomasine Gorry
William T Merritt
Allison L Rhodes
Prithvi S Sankar
Meredith Regina
Eydie Miller-Ellis
Joan M O'Brien
University of Pennsylvania · USPenn Presbyterian Medical Center · US

Funding

Primary Open Angle African-American Glaucoma Genetics Study RenewalR01EY023557 · NEI · UNIVERSITY OF PENNSYLVANIA · PI O'BRIEN, JOAN M · 2014 to 2025
$18.1M
NEI NIH HHS HHSN263201200001CNEI NIH HHS R01 EY023557NIH HHS HHSN263201200001EPHS HHS HHSN260220700001C
6 · The paper itself

Abstract

Primary open-angle glaucoma (POAG) is a major cause of blindness and results from irreversible retinal ganglion cell damage and optic nerve degeneration. In the United States, POAG is most prevalent in African-Americans. Mitochondrial genetics and dysfunction have been implicated in POAG, and potentially pathogenic sequence variations, in particular novel transversional base substitutions, are reportedly common in mitochondrial genomes (mtDNA) from POAG patient blood. The purpose of this study was to ascertain the spectrum of sequence variation in mtDNA from African-American POAG patients and determine whether novel nonsynonymous, transversional or other potentially pathogenic sequence variations are observed more commonly in POAG cases than controls. mtDNA from African-American POAG cases (n = 22) and age-matched controls (n = 22) was analyzed by deep sequencing of a single 16,487 base pair PCR amplicon by Ion Torrent, and candidate novel variants were validated by Sanger sequencing. Sequence variants were classified and interpreted using the MITOMAP compendium of polymorphisms. 99.8% of the observed variations had been previously reported. The ratio of novel variants to POAG cases was 7-fold lower than a prior estimate. Novel mtDNA variants were present in 3 of 22 cases, novel nonsynonymous changes in 1 of 22 cases and novel transversions in 0 of 22 cases; these proportions are significantly lower (p<.0005, p<.0004, p<.0001) than estimated previously for POAG, and did not differ significantly from controls. Although it is possible that mitochondrial genetics play a role in African-Americans' high susceptibility to POAG, it is unlikely that any mitochondrial respiratory dysfunction is due to an abnormally high incidence of novel mutations that can be detected in mtDNA from peripheral blood.

Indexed as

Genetic Predisposition to DiseaseGenetic VariationAgedBase SequenceBlack or African AmericanCase-Control StudiesDatabases, GeneticDemographyDNA, MitochondrialGlaucoma, Open-AngleHaplotypesHumansPhylogenyReproducibility of ResultsSequence Analysis, DNADNA, Mitochondrial

Identifiers

PMID24146900
PMCPMC3798711
OpenAlexW2087146961

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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.