Evidence map›Paper›PMID 25871975›Full record

ArticleTranslational psychiatry2015

DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain.

K Ohi, G Ursini, M Li, J H Shin, T Ye, Q Chen, R Tao, J E Kleinman, T M Hyde, R Hashimoto and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational psychiatry, 2015. 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
0.9field-weighted citation impact, top 26% 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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  7. Genetics of common cerebral small vessel disease.Nature reviews. Neurology · 2022
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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

11 authors at 3 institutions in 2 countries.

K Ohi1] Department of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA [2] Department of Psychiatry, Osaka University Graduate School of Medicine, Osaka, Japan.
G UrsiniDepartment of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
M LiDepartment of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.ORCID 0000000281976552
J H ShinDepartment of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
T YeDepartment of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
Q ChenDepartment of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
R TaoDepartment of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
J E KleinmanDepartment of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
T M Hyde1] Department of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA [2] Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA [3] Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
R Hashimoto1] Department of Psychiatry, Osaka University Graduate School of Medicine, Osaka, Japan [2] Molecular Research Center for Children's Mental Development, United Graduate School of Child Development, Osaka University, Osaka, Japan.ORCID 0000000259414238
D R Weinberger1] Department of Clinical Genetics, Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA [2] Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA [3] Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA [4] Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA [5] Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Lieber Institute for Brain Development · USJohns Hopkins University · USThe University of Osaka · JP

Funding

Intramural NIH HHS
6 · The paper itself

Abstract

A genome-wide association study of cognitive deficits in patients with schizophrenia in Japan found association with a missense genetic variant (rs7157599, Asn8Ser) in the delta(4)-desaturase, sphingolipid 2 (DEGS2) gene. A replication analysis using Caucasian samples showed a directionally consistent trend for cognitive association of a proxy single-nucleotide polymorphism (SNP), rs3783332. Although the DEGS2 gene is expressed in human brain, it is unknown how DEGS2 expression varies during human life and whether it is affected by psychiatric disorders and genetic variants. To address these questions, we examined DEGS2 messenger RNA using next-generation sequencing in postmortem dorsolateral prefrontal cortical tissue from a total of 418 Caucasian samples including patients with schizophrenia, bipolar disorder and major depressive disorder. DEGS2 is expressed at very low levels prenatally and increases gradually from birth to adolescence and consistently expressed across adulthood. Rs3783332 genotype was significantly associated with the expression across all subjects (F3,348=10.79, P=1.12 × 10(-)(3)), particularly in control subjects (F1,87=13.14, P=4.86 × 10(-4)). Similar results were found with rs715799 genotype. The carriers of the risk-associated minor allele at both loci showed significantly lower expression compared with subjects homozygous for the non-risk major allele and this was a consistent finding across all diagnostic groups. DEGS2 expression showed no association with diagnostic status after correcting for multiple testing (P>0.05). Our findings demonstrate that a SNP showing genome-wide association study significant association with cognition in schizophrenia is also associated with regulation of DEGS2 expression, implicating a molecular mechanism for the clinical association.

Indexed as

Schizophrenic PsychologyAdolescentAdultAllelesBipolar DisorderCase-Control StudiesChildChild, PreschoolCognition DisordersFatty Acid DesaturasesFemaleGene ExpressionGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansDEGS2 protein, humanFatty Acid DesaturasesRNA, Messenger

Identifiers

PMID25871975
PMCPMC4462608
OpenAlexW2014216370

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.