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

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

0003-4967
136-139
Hudson, G.
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Panoutsopoulou, K.
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Wilson, I.
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Southam, L.
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Rayner, N.W.
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Arden, Nigel
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Birrell, F.
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Carluke, I.
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Carr, A.
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Chapman, K.
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Deloukas, P.
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Doherty, P.
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McCaskie, A.
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Ollier, W.E.
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Ralston, S.H.
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Spector, T.D.
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Valdes, A.M.
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Wallis, G.A.
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Wilkinson, J.M.
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Zeggini, E.
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Samuels, D.C.
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Loughlin, J.
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Chinnery, P.F.
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Hudson, G.
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Panoutsopoulou, K.
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Wilson, I.
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Southam, L.
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Rayner, N.W.
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Arden, Nigel
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Birrell, F.
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Carluke, I.
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Carr, A.
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Chapman, K.
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Deloukas, P.
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Doherty, P.
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McCaskie, A.
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Ollier, W.E.
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Ralston, S.H.
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Reed, M.R.
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Spector, T.D.
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Valdes, A.M.
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Wallis, G.A.
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Wilkinson, J.M.
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Zeggini, E.
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Samuels, D.C.
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Loughlin, J.
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Chinnery, P.F.
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Hudson, G., Panoutsopoulou, K., Wilson, I., Southam, L., Rayner, N.W., Arden, Nigel, Birrell, F., Carluke, I., Carr, A., Chapman, K., Deloukas, P., Doherty, P., McCaskie, A., Ollier, W.E., Ralston, S.H., Reed, M.R., Spector, T.D., Valdes, A.M., Wallis, G.A., Wilkinson, J.M., Zeggini, E., Samuels, D.C., Loughlin, J. and Chinnery, P.F. (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. (doi:10.1136/annrheumdis-2012-201932). (PMID:22984172)

Record type: Article

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.

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Published date: January 2013
Organisations: Faculty of Health Sciences

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Local EPrints ID: 349426
URI: http://eprints.soton.ac.uk/id/eprint/349426
ISSN: 0003-4967
PURE UUID: c1913e53-8ac0-4f16-839d-32fc10cbf6dd

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Date deposited: 07 Mar 2013 11:20
Last modified: 19 Jul 2019 21:42

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Contributors

Author: G. Hudson
Author: K. Panoutsopoulou
Author: I. Wilson
Author: L. Southam
Author: N.W. Rayner
Author: Nigel Arden
Author: F. Birrell
Author: I. Carluke
Author: A. Carr
Author: K. Chapman
Author: P. Deloukas
Author: P. Doherty
Author: A. McCaskie
Author: W.E. Ollier
Author: S.H. Ralston
Author: M.R. Reed
Author: T.D. Spector
Author: A.M. Valdes
Author: G.A. Wallis
Author: J.M. Wilkinson
Author: E. Zeggini
Author: D.C. Samuels
Author: J. Loughlin
Author: P.F. Chinnery

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