No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

ArcOGEN Consortium, Gavin Hudson, Kalliope Panoutsopoulou, Ian Wilson, Lorraine Southam, Nigel W. Rayner, Nigel Arden, Fraser Birrell, Ian Carluke, Andrew Carr, Kay Chapman, Panos Deloukas, Michael Doherty, Andrew McCaskie, William E. R. Ollier, Stuart H. Ralston, Mike R. Reed, Tim D. Spector, Ana M. Valdes, Gillian A. WallisJ. Mark Wilkinson, Eleftheria Zeggini, David C. Samuels, John Loughlin, Patrick F. Chinnery

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.

Original languageEnglish
Pages (from-to)136-139
Number of pages4
JournalAnnals of the Rheumatic Diseases
Issue number1
Publication statusPublished - Jan 2013


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