Evidence map›Paper›PMID 25380769›Full record

SynthesisSchizophrenia bulletin2015

Common variants in the MKL1 gene confer risk of schizophrenia.

Xiong-Jian Luo, Liang Huang, Edwin J van den Oord, Karolina A Aberg, Lin Gan, Zhongming Zhao, Yong-Gang Yao

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in Schizophrenia bulletin, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.9field-weighted citation impact, top 23% 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

11 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
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  4. Review
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  11. Currently recognized genes for schizophrenia: High-resolution chromosome ideogram representation.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2016
    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

7 authors at 5 institutions in 2 countries.

Xiong-Jian LuoKey Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China; luoxiongjian@mail.kiz.ac.cn.
Liang HuangFirst Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi 341000, China;
Edwin J van den OordCenter for Biomarker Research and Personalized Medicine, Virginia Commonwealth University, Richmond, VA 23298, USA;
Karolina A AbergCenter for Biomarker Research and Personalized Medicine, Virginia Commonwealth University, Richmond, VA 23298, USA;
Lin GanFlaum Eye Institute and Department of Ophthalmology, University of Rochester, Rochester, NY 14642, USA;
Zhongming ZhaoDepartments of Biomedical Informatics and Psychiatry, Vanderbilt University School of Medicine, Nashville, TN.
Yong-Gang YaoKey Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China;
Kunming Institute of Zoology · CNVirginia Commonwealth University · USFirst Affiliated Hospital of Gannan Medical University · CNUniversity of Rochester · USVanderbilt University · US

Funding

Mapping the Genetic Architecture of Complex Disease via RNA-seq and GWAS DataR01LM011177 · NLM · VANDERBILT UNIVERSITY · PI WANG, LILY, ZHAO, ZHONGMING · 2012 to 2014
$1.0M
NLM NIH HHS R01 LM011177
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) of schizophrenia have identified multiple risk variants with robust association signals for schizophrenia. However, these variants could explain only a small proportion of schizophrenia heritability. Furthermore, the effect size of these risk variants is relatively small (eg, most of them had an OR less than 1.2), suggesting that additional risk variants may be detected when increasing sample size in analysis. Here, we report the identification of a genome-wide significant schizophrenia risk locus at 22q13.1 by combining 2 large-scale schizophrenia cohort studies. Our meta-analysis revealed that 7 single nucleotide polymorphism (SNPs) on chromosome 22q13.1 reached the genome-wide significance level (P < 5.0×10(-8)) in the combined samples (a total of 38441 individuals). Among them, SNP rs6001946 had the most significant association with schizophrenia (P = 2.04×10(-8)). Interestingly, all 7 SNPs are in high linkage disequilibrium and located in the MKL1 gene. Expression analysis showed that MKL1 is highly expressed in human and mouse brains. We further investigated functional links between MKL1 and proteins encoded by other schizophrenia susceptibility genes in the whole human protein interaction network. We found that MKL1 physically interacts with GSK3B, a protein encoded by a well-characterized schizophrenia susceptibility gene. Collectively, our results revealed that genetic variants in MKL1 might confer risk to schizophrenia. Further investigation of the roles of MKL1 in the pathogenesis of schizophrenia is warranted.

Indexed as

Cohort StudiesGenome-Wide Association StudyHumansPolymorphism, Single NucleotideRiskSchizophreniaTrans-ActivatorsMRTFA protein, humanTrans-Activatorsgenetic associationGSK3BMKL1protein-protein interactionschizophrenia

Identifiers

PMID25380769
PMCPMC4393692
OpenAlexW1965123088

What OpenQuestion holds

Textmetadata
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.