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dc.contributor.authorSaad, Mohamaden_US
dc.contributor.authorLesage, Suzanneen_US
dc.contributor.authorSaint-Pierre, Audeen_US
dc.contributor.authorCorvol, Jean-Christopheen_US
dc.contributor.authorZelenika, Dianaen_US
dc.contributor.authorLambert, Jean-Charlesen_US
dc.contributor.authorVidailhet, Marieen_US
dc.contributor.authorMellick, Georgeen_US
dc.contributor.authorLohmann, Ebbaen_US
dc.contributor.authorDurif, Francken_US
dc.contributor.authorPollak, Pierreen_US
dc.contributor.authorDamier, Philippeen_US
dc.contributor.authorTison, Françoisen_US
dc.contributor.authorSilburn, Peteren_US
dc.contributor.authorTzourio, Christopheen_US
dc.contributor.authorForlani, Sylvieen_US
dc.contributor.authorLoriot, Marie-Anneen_US
dc.contributor.authorGiroud, Mauriceen_US
dc.contributor.authorHelmer, Catherineen_US
dc.contributor.authorPortet, Florenceen_US
dc.contributor.authorAmouyel, Philippeen_US
dc.contributor.authorLathrop, Marken_US
dc.contributor.authorElbaz, Alexisen_US
dc.contributor.authorDurr, Alexandraen_US
dc.contributor.authorMartinez, Mariaen_US
dc.contributor.authorBrice, Alexisen_US
dc.date.accessioned2017-04-24T11:25:32Z
dc.date.available2017-04-24T11:25:32Z
dc.date.issued2011en_US
dc.date.modified2012-03-15T06:06:11Z
dc.identifier.issn14602083en_US
dc.identifier.doi10.1093/hmg/ddq497en_US
dc.identifier.urihttp://hdl.handle.net/10072/39852
dc.description.abstractWe performed a three-stage genome-wide association study (GWAS) to identify common Parkinson's disease (PD) risk variants in the European population. The initial genome-wide scan was conducted in a French sample of 1039 cases and 1984 controls, using almost 500 000 single nucleotide polymorphisms (SNPs). Two SNPs at SNCA were found to be associated with PD at the genome-wide significance level (P < 3 נ10-8). An additional set of promising and new association signals was identified and submitted for immediate replication in two independent case-control studies of subjects of European descent. We first carried out an in silico replication study using GWAS data from the WTCCC2 PD study sample (1705 cases, 5200 WTCCC controls). Nominally replicated SNPs were further genotyped in a third sample of 1527 cases and 1864 controls from France and Australia. We found converging evidence of association with PD on 12q24 (rs4964469, combined P = 2.4 נ10-7) and confirmed the association on 4p15/BST1 (rs4698412, combined P = 1.8 נ10-6), previously reported in Japanese data. The 12q24 locus includes RFX4, an isoform of which, named RFX4_v3, encodes brain-specific transcription factors that regulate many genes involved in brain morphogenesis and intracellular calcium homeostasis.en_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_US
dc.format.extent1923876 bytes
dc.format.mimetypeapplication/pdf
dc.languageEnglishen_US
dc.language.isoen_US
dc.publisherOxford University Pressen_US
dc.publisher.placeUnited Kingdomen_US
dc.relation.ispartofstudentpublicationNen_US
dc.relation.ispartofpagefrom615en_US
dc.relation.ispartofpageto627en_US
dc.relation.ispartofissue3en_US
dc.relation.ispartofjournalHuman Molecular Geneticsen_US
dc.relation.ispartofvolume20en_US
dc.rights.retentionYen_US
dc.subject.fieldofresearchNeurology and Neuromuscular Diseasesen_US
dc.subject.fieldofresearchcode110904en_US
dc.titleGenome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European populationen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.rights.copyrightCopyright 2011 Oxford University Press. This is a pre-copy-editing, author-produced PDF of an article accepted for publication in Human Molecular Genetics following peer review. The definitive publisher-authenticated version: Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population, Human Molecular Genetics, 20 (3): 615-627 is available online at: http://dx.doi.org/10.1093/hmg/ddq497en_US
gro.date.issued2011
gro.hasfulltextFull Text


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