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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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2008-02-01
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| Series: | PLoS ONE |
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18270557/pdf/?tool=EBI |
| _version_ | 1818567386821820416 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-14T06:22:44Z |
| format | Article |
| id | doaj.art-7711203396e84523acac3ec2fd8a62c5 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-14T06:22:44Z |
| publishDate | 2008-02-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-7711203396e84523acac3ec2fd8a62c52022-12-21T23:13:46ZengPublic Library of Science (PLoS)PLoS ONE1932-62032008-02-0132e153010.1371/journal.pone.0001530mtDNA nt13708A variant increases the risk of multiple sclerosis.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 Ibrahim<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.https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18270557/pdf/?tool=EBI |
| spellingShingle | 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. PLoS ONE |
| title | 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_short | mtDNA nt13708A variant increases the risk of multiple sclerosis. |
| title_sort | mtdna nt13708a variant increases the risk of multiple sclerosis |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/18270557/pdf/?tool=EBI |
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