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mtDNA nt13708A Variant Increases the Risk of Multiple Sclerosis

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dc.contributor.author Yu, Xinhua eng
dc.contributor.author Koczan, Dirk eng
dc.contributor.author Sulonen, Anna-Maija eng
dc.contributor.author Akkad, Denis A. eng
dc.contributor.author Kroner, Antje eng
dc.contributor.author Comabella, Manuel eng
dc.contributor.author Costa, Gianna eng
dc.contributor.author Corongiu, Daniela eng
dc.contributor.author Goertsches, Robert eng
dc.contributor.author Camina-Tato, Montserrat eng
dc.contributor.author Thiese, Hans-Juergen eng
dc.contributor.author Nyland, Harald Inge eng
dc.contributor.author Mørk, Sverre eng
dc.contributor.author Montalban, Xavier eng
dc.contributor.author Rieckmann, Peter eng
dc.contributor.author Marrosu, Maria G. eng
dc.contributor.author Myhr, Kjell-Morten eng
dc.contributor.author Epplen, Joerg T. eng
dc.contributor.author Saarela, Sanna eng
dc.contributor.author Ibrahim, Saleh M. eng
dc.date.accessioned 2008-06-06T12:24:59Z
dc.date.available 2008-06-06T12:24:59Z
dc.date.issued 2008-02-13 eng
dc.identifier.citation PLoS ONE 2008 3(2): e1530 en
dc.identifier.issn 1932-6203 eng
dc.identifier.uri http://hdl.handle.net/1956/2704
dc.description.abstract Background: 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.iso eng eng
dc.publisher PLoS eng
dc.title mtDNA nt13708A Variant Increases the Risk of Multiple Sclerosis eng
dc.type Journal article eng
dc.type Peer reviewed eng
dc.subject.nsi VDP::Matematikk og Naturvitenskap: 400::Basale biofag: 470::Genetikk og genomikk: 474 nob
dc.type.version publishedVersion eng
bora.peerreviewed Peer reviewed eng
bora.cristinID 357136 eng
bibo.doi http://dx.doi.org/10.1371/journal.pone.0001530 eng
dc.identifier.cristinID 357136 eng
dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0001530


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