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dc.contributor.authorYu, Xinhuaeng
dc.contributor.authorKoczan, Dirkeng
dc.contributor.authorSulonen, Anna-Maijaeng
dc.contributor.authorAkkad, Denis A.eng
dc.contributor.authorKroner, Antjeeng
dc.contributor.authorComabella, Manueleng
dc.contributor.authorCosta, Giannaeng
dc.contributor.authorCorongiu, Danielaeng
dc.contributor.authorGoertsches, Roberteng
dc.contributor.authorCamina-Tato, Montserrateng
dc.contributor.authorThiese, Hans-Juergeneng
dc.contributor.authorNyland, Harald Ingeeng
dc.contributor.authorMørk, Sverreeng
dc.contributor.authorMontalban, Xaviereng
dc.contributor.authorRieckmann, Petereng
dc.contributor.authorMarrosu, Maria G.eng
dc.contributor.authorMyhr, Kjell-Morteneng
dc.contributor.authorEpplen, Joerg T.eng
dc.contributor.authorSaarela, Sannaeng
dc.contributor.authorIbrahim, Saleh M.eng
dc.date.accessioned2008-06-06T12:24:59Z
dc.date.available2008-06-06T12:24:59Z
dc.date.issued2008-02-13eng
dc.identifier.citationPLoS ONE 2008 3(2): e1530en
dc.identifier.issn1932-6203eng
dc.identifier.urihttp://hdl.handle.net/1956/2704
dc.description.abstractBackground: Mitochondrial DNA (mtDNA) polymorphism is a possible factor contributing to the maternal parent-of-origin effect in multiple sclerosis (MS) susceptibility. Methods and Findings: In order to investigate the role of mtDNA variations in MS, we investigated six European MS casecontrol cohorts comprising .5,000 individuals. Three well matched cohorts were genotyped with seven common, potentially functional mtDNA single nucleotide polymorphisms (SNPs). A SNP, nt13708 G/A, was significantly associated with MS susceptibility in all three cohorts. The nt13708A allele was associated with an increased risk of MS (OR = 1.71, 95% CI 1.28–2.26, P = 0.0002). Subsequent sequencing of the mtDNA of 50 individuals revealed that the nt13708 itself, rather than SNPs linked to it, was responsible for the association. However, the association of nt13708 G/A with MS was not significant in MS cohorts which were not well case-control matched, indicating that the significance of association was affected by the population structure of controls. Conclusions: Taken together, our finding identified the nt13708A variant as a susceptibility allele to MS, which could contribute to defining the role of the mitochondrial genome in MS pathogenesis.en
dc.language.isoengeng
dc.publisherPLoSeng
dc.titlemtDNA nt13708A Variant Increases the Risk of Multiple Sclerosiseng
dc.typeJournal articleeng
dc.typePeer reviewedeng
dc.subject.nsiVDP::Matematikk og Naturvitenskap: 400::Basale biofag: 470::Genetikk og genomikk: 474nob
dc.type.versionpublishedVersioneng
bora.peerreviewedPeer reviewedeng
bora.cristinID357136eng
bibo.doihttp://dx.doi.org/10.1371/journal.pone.0001530eng
dc.identifier.cristinID357136eng
dc.identifier.doihttp://dx.doi.org/10.1371/journal.pone.0001530


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