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dc.contributor.authorMORRIS, DEREKen
dc.contributor.authorBRADLEY, DANIELen
dc.contributor.authorDONOHOE, GARYen
dc.contributor.authorGILL, MICHAELen
dc.contributor.authorCORVIN, AIDENen
dc.contributor.authorFAHEY, CIARAen
dc.contributor.authorHARDIMAN, ORLAen
dc.contributor.authorMCLAUGHLIN, RUSSELLen
dc.date.accessioned2014-03-24T12:46:09Z
dc.date.available2014-03-24T12:46:09Z
dc.date.issued2014en
dc.date.submitted2014en
dc.identifier.citationFahey C, Byrne S, McLaughlin R, Kenna K, Shatunov A, Donohoe G, Gill M, Al-Chalabi A, Bradley DG, Hardiman O, Corvin AP, Morris DW, Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample., Neurobiology of aging, 35, 6, 2014, 1510.e1 1510.e5en
dc.identifier.issn0197-4580en
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/68347
dc.descriptionPUBLISHEDen
dc.description.abstractThe hexonucleotide repeat expansion 'GGGGCC' at the C9ORF72 gene has been strongly linked with amyotrophic lateral sclerosis and frontotemporal dementia. There is some evidence for clinical and genetic overlap between frontotemporal dementia and schizophrenia. Here, we genotyped the repeat at C9ORF72 in a large Irish psychosis case-control sample (n = 2477). We found no carriers of >30 repeats. We found 7 samples with >22 repeats, 2 schizophrenia cases and 5 controls, but overall we observed no difference in the distribution of the repeat between our case and control samples. By using genome-wide association data to phase haplotypes at this gene, we investigated if carriers of the repeat expansion arose from a single common founder. All samples that carry 17 or more repeats also carry the founder haplotype and overall there is a very strong correlation between repeat length and the founder haplotype (Spearman rho = 0.714, p < 0.001). Our study provides further evidence to bolster the claim that carriers of the repeat expansion at C9ORF72 arose from a single common founderen
dc.description.sponsorshipSFIen
dc.format.extent1510.e1-1510.e5en
dc.language.isoenen
dc.relation.ispartofseriesNeurobiology of agingen
dc.relation.ispartofseries35en
dc.relation.ispartofseries6en
dc.rightsYen
dc.subjectschizophreniaen
dc.titleAnalysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample.en
dc.typeJournal Articleen
dc.contributor.sponsorScience Foundation Ireland (SFI)en
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/acorvinen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/hardimaoen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/dbradleyen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/mgillen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/donoghugen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/mclaugr1en
dc.identifier.peoplefinderurlhttp://people.tcd.ie/morrisdwen
dc.identifier.rssinternalid91291en
dc.identifier.doihttp://dx.doi.org/10.1016/j.neurobiolaging.2013.12.003en
dc.rights.ecaccessrightsOpenAccess
dc.contributor.sponsorGrantNumber08/IN.1/B1916en
dc.subject.TCDThemeGenes & Societyen
dc.subject.TCDThemeNeuroscienceen
dc.identifier.orcid_id0000-0001-6717-4089en


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