Unknown

Dataset Information

0

MtDNA nt13708A variant increases the risk of multiple sclerosis.


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 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.

SUBMITTER: Yu X 

PROVIDER: S-EPMC2217590 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature

altmetric image

Publications


<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  ...[more]

Similar Datasets

| S-EPMC4636485 | biostudies-literature
| S-EPMC4336005 | biostudies-literature
| S-EPMC6927461 | biostudies-literature
| S-EPMC7109160 | biostudies-literature
| S-EPMC5456452 | biostudies-literature
| S-EPMC4022329 | biostudies-literature
2013-10-22 | E-GEOD-45917 | biostudies-arrayexpress
2013-10-22 | GSE45917 | GEO
| S-EPMC2865376 | biostudies-literature
| S-EPMC3426393 | biostudies-literature