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dc.contributor.authorMaher, Bridgeten_US
dc.contributor.authorKerr, Marinaen_US
dc.contributor.authorCox, Hannahen_US
dc.contributor.authorMacMillan, Johnen_US
dc.contributor.authorBrimage, P.en_US
dc.contributor.authorEsposito, T.en_US
dc.contributor.authorGianfrancesco, F.en_US
dc.contributor.authorHaupt, Larisaen_US
dc.contributor.authorNyholt, Daleen_US
dc.contributor.authorLea, Rodneyen_US
dc.contributor.authorGriffiths, Lynen_US
dc.date.accessioned2017-05-03T11:39:35Z
dc.date.available2017-05-03T11:39:35Z
dc.date.issued2012en_US
dc.date.modified2013-04-12T05:46:22Z
dc.identifier.issn13646745en_US
dc.identifier.doi10.1007/s10048-011-0312-7en_US
dc.identifier.urihttp://hdl.handle.net/10072/49353
dc.description.abstractInvestigations into migraine genetics have suggested that susceptibility loci exist on the X chromosome. These reports are supported by evidence that demonstrates male probands as having a higher proportion of affected first-degree relatives as well as the female preponderance of 3:1 that the disorder displays. We have previously implicated the Xq24-28 locus in migraine using two independent multigenerational Australian pedigrees that demonstrated excess allele sharing at the Xq24, Xq27 and Xq28 loci. Here, we expand this work to investigate a further six independent migraine pedigrees using 11 microsatellite markers spanning the Xq27-28 region. Furthermore, 11 candidate genes are investigated in an Australian case-control cohort consisting of 500 cases and 500 controls. Microsatellite analysis showed evidence of excess allele sharing to the Xq27 marker DXS8043 (LOD* 1.38 P00.005) in MF879 whilst a second independent pedigree showed excess allele sharing to DXS8061 at Xq28 (LOD* 1.5 P00.004). Furthermore, analysis of these key markers in a case control cohort showed significant association to migraine in females at the DXS8043 marker (T1 P00.009) and association with MO at DXS8061 (T1 P00.05). Further analysis of 11 key genes across these regions showed significant association of a three-marker risk haplotype in the NSDHL gene at Xq28 (P00.0082). The results of this study add further support to the presence of migraine susceptibility loci on chromosome Xq27 and Xq28 as well as point to potential candidate genes in the regions that warrant further investigation.en_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_US
dc.format.extent136298 bytes
dc.format.mimetypeapplication/pdf
dc.languageEnglishen_US
dc.language.isoen_US
dc.publisherSpringeren_US
dc.publisher.placeGermanyen_US
dc.relation.ispartofstudentpublicationNen_US
dc.relation.ispartofpagefrom97en_US
dc.relation.ispartofpageto101en_US
dc.relation.ispartofissue1en_US
dc.relation.ispartofjournalNeurogeneticsen_US
dc.relation.ispartofvolume13en_US
dc.rights.retentionYen_US
dc.subject.fieldofresearchMedical and Health Sciences not elsewhere classifieden_US
dc.subject.fieldofresearchcode119999en_US
dc.titleConfirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohorten_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.facultyGriffith Health, School of Medical Scienceen_US
gro.rights.copyright© 2012 Springer Berlin / Heidelberg. This is the author-manuscript version of this paper. Reproduced in accordance with the copyright policy of the publisher. The original publication is available at www.springerlink.comen_US
gro.date.issued2012
gro.hasfulltextFull Text


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