Evidence map›Paper›PMID 30976040›Full record

ArticleJournal of human genetics2019

Genetic associations and expression of extra-short isoforms of disrupted-in-schizophrenia 1 in a neurocognitive subgroup of schizophrenia.

Chih-Min Liu, Yu-Li Liu, Hai-Gwo Hwu, Cathy Shen-Jang Fann, Ueng-Cheng Yang, Pei-Chun Hsu, Chien-Ching Chang, Wei J Chen, Tzung-Jeng Hwang, Ming H Hsieh and 4 more

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In one paragraph

Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 25% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Advantages and Limitations of Animal Schizophrenia Models.International journal of molecular sciences · 2022
    Review
  3. Mutations in DISC1 alter IPNeuronal signaling · 2021
    Review
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

14 authors at 6 institutions in 2 countries.

Chih-Min LiuDepartment of Psychiatry, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. cmliu1968@ntu.edu.tw.ORCID http://orcid.org/0000-0001-7016-8990
Yu-Li LiuCenter for Neuropsychiatric Research, National Health Research Institutes, Miaoli, Taiwan.
Hai-Gwo HwuDepartment of Psychiatry, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Cathy Shen-Jang FannInstitute of Biomedical Science, Academia Sinica, Taipei, Taiwan.
Ueng-Cheng YangInstitute of Bioinformatics, National Yang-Ming University, Taipei, Taiwan.
Pei-Chun HsuInstitute of Bioinformatics, National Yang-Ming University, Taipei, Taiwan.
Chien-Ching ChangInstitute of Biomedical Science, Academia Sinica, Taipei, Taiwan.
Wei J ChenInstitute of Epidemiology, College of Public Health, National Taiwan University, Taipei, Taiwan.
Tzung-Jeng HwangDepartment of Psychiatry, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Ming H HsiehDepartment of Psychiatry, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Chen-Chung LiuDepartment of Psychiatry, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Yi-Ling ChienDepartment of Psychiatry, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Yi-Tin LinDepartment of Psychiatry, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
Ming T TsuangCenter for Behavioral Genomics, Department of Psychiatry, University of California, San Diego, La Jolla, CA, USA.
National Taiwan University · TWNational Taiwan University Hospital · TWInstitute of Biomedical Sciences, Academia Sinica · TWNational Yang Ming Chiao Tung University · TWNational Health Research Institutes · TWUniversity of California San Diego · US

Funding

National Taiwan University (NTU) 97HM00271~7U.S. Department of Health & Human Services | National Institutes of Health (NIH) IR01 MH 59624-01
6 · The paper itself

Abstract

Disrupted-in-schizophrenia 1 (DISC1) was reported to be associated with schizophrenia. In a previous study, we found significant association with schizophrenia patients with deficient sustained attention assessed by continuous performance test (CPT). This study aimed to identify risk polymorphisms in this specific neurocognitive subgroup and investigate the expression of different isoforms of DISC1. A total of 83 genetic variants were identified through direct sequencing in 50 controls and 100 schizophrenia patients. Fourteen variants were genotyped in 600 controls and 912 patients. Patients were subgrouped by familial loading (multiplex or simplex) and performance on CPT. The frequency of AA genotype of rs11122324 at the 3'-UTR of Es and Esv1 isoforms and of rs2793091 at intron 4 were significantly higher in multiplex schizophrenia patients than those in controls (corrected p < 0.05). In further subgrouping, the frequency of AA genotype of the two SNPs were significantly higher in multiplex schizophrenia patients with deficient sustained attention than those in controls (corrected p < 0.005). The mRNA expression levels of two extra-short isoforms (Es and Esv1) in the EBV-transformed lymphocytes of schizophrenia were significantly higher than those of controls. Luciferase reporter assays demonstrated that the A-allele of rs11122324 significantly upregulated DISC1 extra-short isoforms transcription compared with the G-allele. We found two SNPs (rs11122324 and rs2793091) of DISC1 may be specifically associated with multiplex schizophrenia patients with deficient sustained attention. The SNP rs11122324 may be a risk polymorphism, which may have functional influence on the transcription of Es and Esv1 through increasing their expression.

Indexed as

AllelesExonsFemaleGenetic Predisposition to DiseaseHumansMaleNerve Tissue ProteinsNeurocognitive DisordersPolymorphism, Single NucleotideProtein IsoformsRNA IsoformsSchizophreniaTaiwanDISC1 protein, humanNerve Tissue ProteinsProtein IsoformsRNA Isoforms

Identifiers

PMID30976040
OpenAlexW2938804458

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.