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mtDNA nt13708A Variant Increases the Risk of Multiple Sclerosis

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dc.contributor.author Yu, Xinhua
dc.contributor.author Koczan, Dirk
dc.contributor.author Sulonen, Anna-Maija
dc.contributor.author Akkad, Denis A.
dc.contributor.author Kroner, Antje
dc.contributor.author Comabella, Manuel
dc.contributor.author Costa, Gianna
dc.contributor.author Corongiu, Daniela
dc.contributor.author Goertsches, Robert
dc.contributor.author Camina-Tato, Montserrat
dc.contributor.author Thiese, Hans-Juergen
dc.contributor.author Nyland, Harald Inge
dc.contributor.author Mørk, Sverre
dc.contributor.author Montalban, Xavier
dc.contributor.author Rieckmann, Peter
dc.contributor.author Marrosu, Maria G.
dc.contributor.author Myhr, Kjell-Morten
dc.contributor.author Epplen, Joerg T.
dc.contributor.author Saarela, Sanna
dc.contributor.author Ibrahim, Saleh M.
dc.date.accessioned 2008-06-06T12:24:59Z
dc.date.available 2008-06-06T12:24:59Z
dc.date.issued 2008-02-13
dc.identifier.citation PLoS ONE 2008 3(2): e1530 en
dc.identifier.issn 1932-6203
dc.identifier.uri http://dx.doi.org/10.1371/journal.pone.0001530
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 en
dc.publisher PLoS en
dc.title mtDNA nt13708A Variant Increases the Risk of Multiple Sclerosis en
dc.type Journal article en
dc.type Peer reviewed en
dc.subject.nsi VDP::Matematikk og Naturvitenskap: 400::Basale biofag: 470::Genetikk og genomikk: 474 no
dc.type.version publishedVersion
bora.cristinID 357136


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