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dc.contributor.authorStefansson, Hreinn*
dc.contributor.authorSarginson, Jane*
dc.contributor.authorKong, Augustine*
dc.contributor.authorYates, Phil*
dc.contributor.authorSteinthorsdottir, Valgerdur*
dc.contributor.authorGudfinnsson, Einar*
dc.contributor.authorGunnarsdottir, Steinunn*
dc.contributor.authorWalker, Nicholas*
dc.contributor.authorPetursson, Hannes*
dc.contributor.authorCrombie, Caroline*
dc.contributor.authorIngason, Andres*
dc.contributor.authorGulcher, Jeffrey R*
dc.contributor.authorStefansson, Kari*
dc.contributor.authorSt Clair, David*
dc.date.accessioned2010-08-25T10:03:06Z
dc.date.available2010-08-25T10:03:06Z
dc.date.issued2003-01-01
dc.date.submitted2010-08-25
dc.identifier.citationAm J Hum Genet. 2003, 72(1):83-7en
dc.identifier.issn0002-9297
dc.identifier.pmid12478479
dc.identifier.urihttp://hdl.handle.net/2336/110314
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractRecently, 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.
dc.language.isoenen
dc.publisherUniversity of Chicago Pressen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC420015/?report=abstracten
dc.subject.meshAlgorithmsen
dc.subject.meshGene Frequencyen
dc.subject.meshGenetic Markersen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHaplotypesen
dc.subject.meshHumansen
dc.subject.meshLinkage Disequilibriumen
dc.subject.meshMicrosatellite Repeatsen
dc.subject.meshMolecular Sequence Dataen
dc.subject.meshNeuregulin-1en
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshReproducibility of Resultsen
dc.subject.meshSchizophreniaen
dc.subject.meshScotlanden
dc.titleAssociation of neuregulin 1 with schizophrenia confirmed in a Scottish populationen
dc.typeArticleen
dc.contributor.departmentdeCODE Genetics, Reykjavík, Iceland. hreinn@decode.isen
dc.identifier.journalAmerican journal of human geneticsen
html.description.abstractRecently, 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.


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