title: No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls.
abstract: OBJECTIVE
  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.
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Gavin
authors.initials: G
authors.lastname: Hudson
authors.forename: Kalliope
authors.initials: K
authors.lastname: Panoutsopoulou
authors.forename: Ian
authors.initials: I
authors.lastname: Wilson
authors.forename: Lorraine
authors.initials: L
authors.lastname: Southam
authors.forename: Nigel W
authors.initials: NW
authors.lastname: Rayner
authors.forename: Nigel
authors.initials: N
authors.lastname: Arden
authors.forename: Fraser
authors.initials: F
authors.lastname: Birrell
authors.forename: Ian
authors.initials: I
authors.lastname: Carluke
authors.forename: Andrew
authors.initials: A
authors.lastname: Carr
authors.forename: Kay
authors.initials: K
authors.lastname: Chapman
authors.forename: Panos
authors.initials: P
authors.lastname: Deloukas
authors.forename: Michael
authors.initials: M
authors.lastname: Doherty
authors.forename: Andrew
authors.initials: A
authors.lastname: McCaskie
authors.forename: William E R
authors.initials: WE
authors.lastname: Ollier
authors.forename: Stuart H
authors.initials: SH
authors.lastname: Ralston
authors.forename: Mike R
authors.initials: MR
authors.lastname: Reed
authors.forename: Tim D
authors.initials: TD
authors.lastname: Spector
authors.forename: Ana M
authors.initials: AM
authors.lastname: Valdes
authors.forename: Gillian A
authors.initials: GA
authors.lastname: Wallis
authors.forename: J Mark
authors.initials: JM
authors.lastname: Wilkinson
authors.forename: Eleftheria
authors.initials: E
authors.lastname: Zeggini
authors.forename: David C
authors.initials: DC
authors.lastname: Samuels
authors.forename: John
authors.initials: J
authors.lastname: Loughlin
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D010003:Osteoarthritis / Q000235:genetics*; D025341:Principal Component Analysis
chemical_list: D004272:DNA, Mitochondrial