Evidence map›Paper›PMID 29370225›Full record

ArticlePloS one2018

Examining the role of common and rare mitochondrial variants in schizophrenia.

Vanessa F Gonçalves, Stephanie N Giamberardino, James J Crowley, Marquis P Vawter, Richa Saxena, Cynthia M Bulik, Zeynep Yilmaz, Christina M Hultman, Pamela Sklar, James L Kennedy and 2 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
1.3field-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

17 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 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

12 authors at 6 institutions in 4 countries.

Vanessa F GonçalvesDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.ORCID 0000-0001-5619-8755
Stephanie N GiamberardinoDepartment of Genetics, University of North Carolina, Chapel Hill, NC, United States of America.
James J CrowleyDepartment of Genetics, University of North Carolina, Chapel Hill, NC, United States of America.
Marquis P VawterFunctional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, CA, United States of America.
Richa SaxenaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, United States of America.
Cynthia M BulikDepartment of Psychiatry, University of North Carolina, Chapel Hill, NC, United States of America.
Zeynep YilmazDepartment of Psychiatry, University of North Carolina, Chapel Hill, NC, United States of America.
Christina M HultmanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Pamela SklarDivision of Psychiatric Genomics, Department of Psychiatry, Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
James L KennedyDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.
Patrick F SullivanDepartment of Genetics, University of North Carolina, Chapel Hill, NC, United States of America.
Jo KnightDepartment of Psychiatry, University of Toronto, Toronto, ON, Canada.
University of North Carolina at Chapel Hill · USCentre for Addiction and Mental Health · CAIcahn School of Medicine at Mount Sinai · USKarolinska Institutet · SEMassachusetts General Hospital · USUniversity of California, Irvine · US

Funding

Mitochondrial Dysfunction In SchizophreniaR01MH085801 · NIMH · UNIVERSITY OF CALIFORNIA-IRVINE · PI VAWTER, MARQUIS PHILIP · 2009 to 2020
$5.0M
Genetic & Environmental Predictors of Tourette Syndrome & OCD in DenmarkR01MH105500 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CROWLEY, JAMES JOSEPH · 2015 to 2019
$3.0M
1/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109528 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2016 to 2020
$2.5M
Postdoctoral Research Training in Eating DisordersT32MH076694 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BULIK, CYNTHIA M · 2007 to 2016
$1.8M
Shared Genetic and Environmental Risk Factors for Anorexia Nervosa and Obsessive-Compulsive Disorder in DenmarkK01MH109782 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI YILMAZ, ZEYNEP · 2016 to 2019
$620k
Mitochondrial Deletions in Mood DisordersR21MH099440 · NIMH · UNIVERSITY OF CALIFORNIA-IRVINE · PI VAWTER, MARQUIS PHILIP · 2013 to 2014
$424k
NIH HHS K01MH109782NIH HHS R01MH085801NIH HHS R01MH105500NIH HHS R21MH099440-01NIH HHS T32MH076694NIMH NIH HHS K01 MH109782NIMH NIH HHS R01 MH085801NIMH NIH HHS R01 MH105500NIMH NIH HHS R21 MH099440NIMH NIH HHS T32 MH076694NIMH NIH HHS U01 MH109528
6 · The paper itself

Abstract

Oxidative phosphorylation within mitochondria is the main source of aerobic energy for neuronal functioning, and the key genes are located in mitochondrial DNA. Deficits in oxidative phosphorylation functioning have been reported for schizophrenia, but efforts in the identification of genetic markers within the mitochondrial DNA that predispose to schizophrenia have been limited. We genotyped a set of mitochondrial SNPs using Illumina HumanExome arrays and tested for association in the Swedish schizophrenia sample (N> 10,000). We developed a novel approach for mitochondrial DNA imputation in order to increase the number of common SNPs available for association analysis. The most significant findings were for the mitochondrial SNPs C15452A (GRCh38.p10; rs527236209; p = 0.007; gene MT-CYB; defining haplogroup JT); A11251G (rs869096886; p = 0.007; gene MT-ND4; defining haplogroup JT), and T4216C (rs1599988; p = 0.008, gene MT-ND1, defining haplogroup R2'JT). We also conducted rare variant burden analyses and obtained a p-value of 0.007. For multimarker haplotypes analysis, the most significant finding was for the J group (OR: 0.86, p = 0.02). We conducted the largest association study of mitochondrial DNA variants and schizophrenia but did not find an association that survived multiple testing correction. Analysis of a larger sample is required and will allow a better understanding of the role of mitochondria in schizophrenia.

Indexed as

DNA, MitochondrialGenetic MarkersGenetic Predisposition to DiseaseHaplotypesHumansMalePolymorphism, Single NucleotideSchizophreniaSwedenDNA, MitochondrialGenetic Markers

Identifiers

PMID29370225
PMCPMC5784966
OpenAlexW2785578438

What OpenQuestion holds

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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.