mtDNA nt13708A variant increases the risk of multiple sclerosis

Xinhua Yu*, Dirk Koczan, Anna Maija Sulonen, Denis A. Akkad, Antje Kroner, Manuel Comabella, Gianna Costa, Daniela Corongiu, Robert Goertsches, Montserrat Camina-Tato, Hans Juergen Thiesen, Harald I. Nyland, Sverre J. Mørk, Xavier Montalban, Peter Rieckmann, Maria G. Marrosu, Kjell Morten Myhr, Joerg T. Epplen, Janna Saarela, Saleh M. Ibrahim

*Corresponding author for this work
55 Citations (Scopus)


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 case control 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.

Original languageEnglish
Article numbere1530
JournalPLoS ONE
Issue number2
Publication statusPublished - 13.02.2008

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


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