No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.
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Authors
Birrell, Fraser
Carluke, Ian
Reed, Mike
Issue Date
2012
Type
Article
Language
en
Keywords
osteoarthritis , Genome-Wide Association Study
Alternative Title
Abstract
Objectives: Osteoarthritis (OA) has a complex aetiology with a strong genetic component. Genome-wide association studies implicate several nuclear genes in the aetiology, but a major component of the heritability has yet to be defined at the molecular level. Initial studies implicate maternally inherited variants of mitochondrial DNA (mtDNA) in subgroups of patients with OA based on gender and specific joint involvement, but these findings have not been replicated.
Methods: The authors studied 138 maternally inherited mtDNA variants genotyped in a two cohort genetic association study across a total of 7393 OA cases from the arcOGEN consortium and 5122 controls genotyped in the Wellcome Trust Case Control consortium 2 study.
Results: Following data quality control we examined 48 mtDNA variants that were common in cohort 1 and cohort 2, and found no association with OA. None of the phenotypic subgroups previously associated with mtDNA haplogroups were associated in this study.
Conclusions: We were not able to replicate previously published findings in the largest mtDNA association study to date. The evidence linking OA to mtDNA is not compelling at present.
Description
Citation
Hudson, G., Panoutsopoulou, K., Wilson, I. et al. (2013) No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls. Annals of the Rheumatic Diseases; 72 (1) : 136-139.
Publisher
License
Journal
Annals of the Rheumatic Diseases
Volume
Issue
PubMed ID
ISSN
1468-2060