Bergen Open Research Archive

mtDNA nt13708A Variant Increases the Risk of Multiple Sclerosis

Bergen Open Research Archive

Show simple item record Yu, Xinhua eng Koczan, Dirk eng Sulonen, Anna-Maija eng Akkad, Denis A. eng Kroner, Antje eng Comabella, Manuel eng Costa, Gianna eng Corongiu, Daniela eng Goertsches, Robert eng Camina-Tato, Montserrat eng Thiese, Hans-Juergen eng Nyland, Harald Inge eng Mørk, Sverre eng Montalban, Xavier eng Rieckmann, Peter eng Marrosu, Maria G. eng Myhr, Kjell-Morten eng Epplen, Joerg T. eng Saarela, Sanna eng Ibrahim, Saleh M. eng 2008-06-06T12:24:59Z 2008-06-06T12:24:59Z 2008-02-13 eng
dc.identifier.citation PLoS ONE 2008 3(2): e1530 en
dc.identifier.issn 1932-6203 eng
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 eng
dc.identifier.cristinID 357136 eng

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