Evidence map›Paper›PMID 12478479›Full record

ArticleAmerican journal of human genetics2003

Association of neuregulin 1 with schizophrenia confirmed in a Scottish population.

Hreinn Stefansson, Jane Sarginson, Augustine Kong, Phil Yates, Valgerdur Steinthorsdottir, Einar Gudfinnsson, Steinunn Gunnarsdottir, Nicholas Walker, Hannes Petursson, Caroline Crombie and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 198 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
198citing papers in PubMed, 6 pooled it
28.3field-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

198 citing papers in PubMed, 6 syntheses or guidelines pooled it, 557 citations in OpenAlex.

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  6. Meta-analysis in psychiatric genetics.Current psychiatry reports · 2005
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  20. NMDAR Hypofunction Animal Models of Schizophrenia.Frontiers in molecular neuroscience · 2019
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138 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

14 authors at 4 institutions in 4 countries.

Hreinn StefanssondeCODE Genetics, Reykjavík, Iceland. hreinn@decode.is
Jane Sarginson
Augustine Kong
Phil Yates
Valgerdur Steinthorsdottir
Einar Gudfinnsson
Steinunn Gunnarsdottir
Nicholas Walker
Hannes Petursson
Caroline Crombie
Andres Ingason
Jeffrey R Gulcher
Kari Stefansson
David St Clair
deCODE Genetics (Iceland) · ISUniversity of Aberdeen · GBCraig Hospital · USNational University Hospital · SG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recently, we identified neuregulin 1 (NRG1) as a susceptibility gene for schizophrenia in the Icelandic population, by a combined linkage and association approach. Here, we report the first study evaluating the relevance of NRG1 to schizophrenia in a population outside Iceland. Markers representing a core at-risk haplotype found in Icelanders at the 5' end of the NRG1 gene were genotyped in 609 unrelated Scottish patients and 618 unrelated Scottish control individuals. This haplotype consisted of five SNP markers and two microsatellites, which all appear to be in strong linkage disequilibrium. For the Scottish patients and control subjects, haplotype frequencies were estimated by maximum likelihood, using the expectation-maximization algorithm. The frequency of the seven-marker haplotype among the Scottish patients was significantly greater than that among the control subjects (10.2% vs. 5.9%, P=.00031). The estimated risk ratio was 1.8, which is in keeping with our report of unrelated Icelandic patients (2.1). Three of the seven markers in the haplotype gave single-point P values ranging from .000064 to .0021 for the allele contributing to the at-risk haplotype. This direct replication of haplotype association in a second population further implicates NRG1 as a factor that contributes to the etiology of schizophrenia.

Indexed as

AlgorithmsGene FrequencyGenetic MarkersGenetic Predisposition to DiseaseHaplotypesHumansLinkage DisequilibriumMicrosatellite RepeatsMolecular Sequence DataNeuregulin-1Polymorphism, Single NucleotideReproducibility of ResultsSchizophreniaScotlandGenetic MarkersNeuregulin-1

Identifiers

PMID12478479
PMCPMC420015
OpenAlexW2066635264

What OpenQuestion holds

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Read underepoch 390

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.