Evidence map›Paper›PMID 12145742›Full record

ArticleAmerican journal of human genetics2002

Neuregulin 1 and susceptibility to schizophrenia.

Hreinn Stefansson, Engilbert Sigurdsson, Valgerdur Steinthorsdottir, Soley Bjornsdottir, Thordur Sigmundsson, Shyamali Ghosh, Jon Brynjolfsson, Steinunn Gunnarsdottir, Omar Ivarsson, Thomas T Chou and 28 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 648 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
648citing papers in PubMed, 9 pooled it
40.8field-weighted citation impact, top 1% 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

648 citing papers in PubMed, 9 syntheses or guidelines pooled it, 1,659 citations in OpenAlex.

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588 more citing papers are in PubMed but not listed here.

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

38 authors at 8 institutions in 6 countries.

Hreinn StefanssondeCODE Genetics, Reykjavik, Iceland. kstefans@decode.is.
Engilbert Sigurdsson
Valgerdur Steinthorsdottir
Soley Bjornsdottir
Thordur Sigmundsson
Shyamali Ghosh
Jon Brynjolfsson
Steinunn Gunnarsdottir
Omar Ivarsson
Thomas T Chou
Omar Hjaltason
Birgitta Birgisdottir
Helgi Jonsson
Vala G Gudnadottir
Elsa Gudmundsdottir
Asgeir Bjornsson
Brynjolfur Ingvarsson
Andres Ingason
Sigmundur Sigfusson
Hronn Hardardottir
Richard P Harvey
Donna Lai
Mingdong Zhou
Daniela Brunner
Vincent Mutel
Acuna Gonzalo
Greg Lemke
Jesus Sainz
Gardar Johannesson
Thorkell Andresson
Daniel Gudbjartsson
Andrei Manolescu
Michael L Frigge
Mark E Gurney
Augustine Kong
Jeffrey R Gulcher
Hannes Petursson
Kari Stefansson
National University Hospital · SGdeCODE Genetics (Iceland) · ISAkureyri Hospital · ISRoche (Switzerland) · CHVictor Chang Cardiac Research Institute · AUPsychogenics (United States) · USSalk Institute for Biological Studies · USZensun (China) · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The cause of schizophrenia is unknown, but it has a significant genetic component. Pharmacologic studies, studies of gene expression in man, and studies of mouse mutants suggest involvement of glutamate and dopamine neurotransmitter systems. However, so far, strong association has not been found between schizophrenia and variants of the genes encoding components of these systems. Here, we report the results of a genomewide scan of schizophrenia families in Iceland; these results support previous work, done in five populations, showing that schizophrenia maps to chromosome 8p. Extensive fine-mapping of the 8p locus and haplotype-association analysis, supplemented by a transmission/disequilibrium test, identifies neuregulin 1 (NRG1) as a candidate gene for schizophrenia. NRG1 is expressed at central nervous system synapses and has a clear role in the expression and activation of neurotransmitter receptors, including glutamate receptors. Mutant mice heterozygous for either NRG1 or its receptor, ErbB4, show a behavioral phenotype that overlaps with mouse models for schizophrenia. Furthermore, NRG1 hypomorphs have fewer functional NMDA receptors than wild-type mice. We also demonstrate that the behavioral phenotypes of the NRG1 hypomorphs are partially reversible with clozapine, an atypical antipsychotic drug used to treat schizophrenia.

Indexed as

Chromosomes, Human, Pair 8Genetic Predisposition to DiseaseAnimalsChromosome MappingDisease Models, AnimalErbB ReceptorsFemaleHaplotypesHumansMaleMiceMice, Inbred C57BLMolecular Sequence DataNeuregulin-1Receptor, ErbB-4SchizophreniaERBB4 protein, humanErbb4 protein, mouseErbB ReceptorsNeuregulin-1Receptor, ErbB-4

Identifiers

PMID12145742
PMCPMC378543
OpenAlexW2020237866

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.