Evidence map›Paper›PMID 30653964›Full record

ArticleExperimental eye research2019

The association of mitochondrial DNA haplogroups with POAG in African Americans.

Harini V Gudiseva, Maxwell Pistilli, Rebecca Salowe, Larry N Singh, David W Collins, Brian Cole, Jie He, Sayaka Merriam, Naira Khachataryan, Jeffrey Henderer and 8 more

Abstract read
In one paragraph

Article in Experimental eye research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.5field-weighted citation impact, top 20% 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

4 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Genes · 2021
    Article
  4. 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

18 authors at 4 institutions in 1 country.

Harini V GudisevaScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Maxwell PistilliScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Rebecca SaloweScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Larry N SinghCenter for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia and Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
David W CollinsScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Brian ColeInstitute for Biomedical Informatics, University of Pennsylvania, Philadelphia, PA, USA.
Jie HeScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Sayaka MerriamScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Naira KhachataryanScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Jeffrey HendererLewis Katz School of Medicine at Temple University, Philadelphia, PA, USA.
Victoria AddisScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Qi N CuiScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Prithvi S SankarScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Eydie Miller-EllisScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Venkata R M ChavaliScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Gui-Shuang YingScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
Douglas WallaceCenter for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia and Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Joan M O'BrienScheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: joan.o'brien@uphs.upenn.edu.
Penn Presbyterian Medical Center · USChildren's Hospital of Philadelphia · USTemple University · USUniversity of Pennsylvania · 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
PENN Vision Clinical Scientist ProgramK12EY015398 · NEI · UNIVERSITY OF PENNSYLVANIA · PI JOSHUA L DUNAIEF · 2004 to 2026
$11.7M
MITOCHONDRIAL INBORN ERRORS OF METABOLISMR01NS021328 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI WALLACE, DOUGLAS C · 1985 to 2017
$6.5M
The Intellectual and Developmental Disabilities Research Center at CHOP/PennU54HD086984 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ROBERTS, TIMOTHY P · 2016 to 2020
$6.3M
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
Mitochondrial Respiratory Chain Dysfunction in Primary Open Angle GlaucomaK08EY029765 · NEI · UNIVERSITY OF PENNSYLVANIA · PI CUI, QI N · 2019 to 2021
$731k
NEI NIH HHS HHSN263201200001CNEI NIH HHS K08 EY029765NEI NIH HHS K12 EY015398NEI NIH HHS L30 EY029353NEI NIH HHS P30 EY001583NEI NIH HHS R01 EY023557NICHD NIH HHS U54 HD086984NIH HHS HHSN263201200001ENIMH NIH HHS R01 MH108592NINDS NIH HHS R01 NS021328NINDS NIH HHS R01 NS041850
6 · The paper itself

Abstract

Mitochondrial dysfunction has been implicated in the pathogenesis of primary open-angle glaucoma (POAG). However, the potential significance of mitochondrial DNA (mtDNA) haplogroups to POAG has not been evaluated in the overaffected African American population. To investigate the association of mtDNA haplogroups with POAG and its phenotypic characteristics, genotyping data from 4081 African American subjects (1919 cases and 2162 controls) was analyzed using 1293 positions on mtDNA. The overall frequency of mtDNA haplogroups in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study cohort was 37% L3, 29% L2, 21% L1, 4% L0, and 10% non-African haplogroups (non-L). When all haplogroups (L0, L1, L2, and non-L) were compared against theL3 reference group, after adjusting by age and principal component of ancestry, the non-L3 haplogroups showed higher risk of POAG (OR-1.19, p = 0.02), with a particularly strong association among males (OR = 1.41, p = 0.003). More specifically the non-L group was associated with higher POAG risk than the L3 haplogroup (OR = 1.77, p = 0.007, Bonferroni adjusted p = 0.027) and to the L3e (n = 256, OR = 1.92, p = 0.007, Bonferroni adjusted p = 0.029). No significant association was found when genders were analyzed together or in female only analysis. There were no significant differences in various POAG endophenotypes across mtDNA haplogroups. This study expands our knowledge of mitochondrial genetics and mtDNA haplogroup associations in African American POAG. Further work is needed to better understand the functional role of mtDNA polymorphisms and their interactions with nuclear genes that affect POAG.

Indexed as

AdultBlack or African AmericanDNA, MitochondrialFemaleGlaucoma, Open-AngleHaplotypesHumansLogistic ModelsMaleMiddle AgedOdds RatioDNA, MitochondrialAfrican AmericansGlaucomaMitochondrial geneticsMitochondrial haplogroupsPrimary open-angle glaucoma

Identifiers

PMID30653964
PMCPMC6443410
OpenAlexW2909681319

What OpenQuestion holds

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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.