mtDNA nt13708A variant increases the risk of multiple sclerosis.
<h4>Background</h4>Mitochondrial DNA (mtDNA) polymorphism is a possible factor contributing to the maternal parent-of-origin effect in multiple sclerosis (MS) susceptibility.<h4>Methods and findings</h4>In order to investigate the role of mtDNA variations in MS, we investigat...
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2008
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oai:doaj.org-article:7711203396e84523acac3ec2fd8a62c52021-11-25T06:13:27ZmtDNA nt13708A variant increases the risk of multiple sclerosis.1932-620310.1371/journal.pone.0001530https://doaj.org/article/7711203396e84523acac3ec2fd8a62c52008-02-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18270557/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Mitochondrial DNA (mtDNA) polymorphism is a possible factor contributing to the maternal parent-of-origin effect in multiple sclerosis (MS) susceptibility.<h4>Methods and findings</h4>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.<h4>Conclusions</h4>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.Xinhua YuDirk KoczanAnna-Maija SulonenDenis A AkkadAntje KronerManuel ComabellaGianna CostaDaniela CorongiuRobert GoertschesMontserrat Camina-TatoHans-Juergen ThiesenHarald I NylandSverre J MørkXavier MontalbanPeter RieckmannMaria G MarrosuKjell-Morten MyhrJoerg T EpplenJanna SaarelaSaleh M IbrahimPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 3, Iss 2, p e1530 (2008) |
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Medicine R Science Q 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 mtDNA nt13708A variant increases the risk of multiple sclerosis. |
| description |
<h4>Background</h4>Mitochondrial DNA (mtDNA) polymorphism is a possible factor contributing to the maternal parent-of-origin effect in multiple sclerosis (MS) susceptibility.<h4>Methods and findings</h4>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.<h4>Conclusions</h4>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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Xinhua Yu |
| title |
mtDNA nt13708A variant increases the risk of multiple sclerosis. |
| title_short |
mtDNA nt13708A variant increases the risk of multiple sclerosis. |
| title_full |
mtDNA nt13708A variant increases the risk of multiple sclerosis. |
| title_fullStr |
mtDNA nt13708A variant increases the risk of multiple sclerosis. |
| title_full_unstemmed |
mtDNA nt13708A variant increases the risk of multiple sclerosis. |
| title_sort |
mtdna nt13708a variant increases the risk of multiple sclerosis. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2008 |
| url |
https://doaj.org/article/7711203396e84523acac3ec2fd8a62c5 |
| work_keys_str_mv |
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