Evidence map›Paper›PMID 30242360›Full record

ArticleInvestigative ophthalmology & visual science2018

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma.

Larry N Singh, Jonathan G Crowston, M Isabel G Lopez Sanchez, Nicole J Van Bergen, Lisa S Kearns, Alex W Hewitt, Seyhan Yazar, David A Mackey, Douglas C Wallace, Ian A Trounce

Open access · goldAbstract read
In one paragraph

Article in Investigative ophthalmology & visual science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.0field-weighted citation impact, top 9% 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

19 citing papers in PubMed, 30 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Article
  5. The role of RGC degeneration in the pathogenesis of glaucoma.International journal of biological sciences · 2025
    Review
  6. Protein misfolding and mitochondrial dysfunction in glaucoma.Frontiers in cell and developmental biology · 2025
    Review
  7. Article
  8. Review
  9. Mitochondrial DNAFrontiers in ophthalmology · 2023
    Article
  10. Review
  11. Review
  12. Review
  13. Article
  14. Article
  15. The Role of MicroRNAs in Mitochondria-Mediated Eye Diseases.Frontiers in cell and developmental biology · 2021
    Review
  16. Article
  17. Article
  18. Article
  19. TheInternational journal of molecular sciences · 2020
    Article
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 6 institutions in 3 countries.

Larry N SinghCenter for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, University of Pennsylvania, Philadelphia, United States.
Jonathan G CrowstonCenter for Eye Research Australia, Ophthalmology, University of Melbourne Department of Surgery, Melbourne, Australia.
M Isabel G Lopez SanchezCenter for Eye Research Australia, Ophthalmology, University of Melbourne Department of Surgery, Melbourne, Australia.
Nicole J Van BergenCenter for Eye Research Australia, Ophthalmology, University of Melbourne Department of Surgery, Melbourne, Australia.
Lisa S KearnsCenter for Eye Research Australia, Ophthalmology, University of Melbourne Department of Surgery, Melbourne, Australia.
Alex W HewittCenter for Eye Research Australia, Ophthalmology, University of Melbourne Department of Surgery, Melbourne, Australia.
Seyhan YazarLions Eye Institute, University of Western Australia, Centre for Ophthalmology and Visual Science, Perth, Australia.
David A MackeyLions Eye Institute, University of Western Australia, Centre for Ophthalmology and Visual Science, Perth, Australia.
Douglas C WallaceCenter for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, University of Pennsylvania, Philadelphia, United States.
Ian A TrounceCenter for Eye Research Australia, Ophthalmology, University of Melbourne Department of Surgery, Melbourne, Australia.
Centre for Eye Research Australia · AUChildren's Hospital of Philadelphia · USUniversity of Melbourne · AULions Eye Institute · AUUniversity of Tasmania · AUUniversity of Western Australia · AU

Funding

MITOCHONDRIAL INBORN ERRORS OF METABOLISMR01NS021328 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI WALLACE, DOUGLAS C · 1985 to 2017
$6.5M
A MITOCHONDRIAL-INTERNEURONAL HYPOTHESIS OF AUTISMR01MH108592 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI WALLACE, DOUGLAS C · 2016 to 2020
$3.1M
ANT Defects in Neurodegenerative DiseasesR01NS041850 · NINDS · UNIVERSITY OF CALIFORNIA IRVINE · PI WALLACE, DOUGLAS C · 2001 to 2005
$1.4M
High-throughput on-chip platform for interrogation of mitochondrial membrane potential and apoptosisR33CA182384 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI BURKE, PETER J. · 2015 to 2017
$1.2M
NCI NIH HHS R33 CA182384NIMH NIH HHS R01 MH108592NINDS NIH HHS R01 NS021328NINDS NIH HHS R01 NS041850
6 · The paper itself

Abstract

Purpose: To determine whether mitochondrial DNA haplogroups or rare variants associate with primary open-angle glaucoma in subjects of European descent. Methods: A case-control comparison of age- and sex-matched cohorts of 90 primary open-angle glaucoma patients and 95 population controls. Full mitochondrial DNA sequences from peripheral blood were generated by next-generation sequencing and compared to the revised Cambridge Reference Sequence to define mitochondrial haplogroups and variants. Results: Most subjects were of the major European haplogroups H, J, K, U, and T. Logistic regression analysis showed haplogroup U to be significantly underrepresented in male primary open-angle glaucoma subjects (odds ratio 0.25; 95% confidence interval [CI] 0.09-0.67; P = 0.007; Bonferroni multiple testing P = 0.022). Variants in the mitochondrial DNA gene MT-ND2 were overrepresented in the control group (P = 0.005; Bonferroni multiple testing correction P = 0.015). Conclusions: Mitochondrial DNA ancestral lineages modulate the risk for primary open-angle glaucoma in populations of European descent. Haplogroup U and rare variants in the mitochondrial DNA-encoded MT-ND2 gene may be protective against primary open-angle glaucoma. Larger studies are warranted to explore haplogroup associations with disease risk in different ethnic groups and define biomarkers of primary open-angle glaucoma endophenotypes to target therapeutic strategies.

Indexed as

Genes, MitochondrialGenetic Predisposition to DiseaseAgedCase-Control StudiesDNA, MitochondrialFemaleGenetic VariationGlaucoma, Open-AngleGonioscopyHigh-Throughput Nucleotide SequencingHumansIntraocular PressureMaleMiddle AgedMitochondriaNADH DehydrogenaseDNA, MitochondrialNADH DehydrogenaseNADH dehydrogenase subunit 2, human

Identifiers

PMID30242360
PMCPMC6138263
OpenAlexW2890035583

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.