Mitochondrial DNA haplogroups modulate the radiographic progression of Spanish patients with osteoarthritis


Not all patients with osteoarthritis (OA) show the same disease progression, as some of them remain relatively stable over time, while others progress to severe structural deterioration of the joint. In this sense, the main goal of both genetic and protein biomarkers in OA is to predict not only the risk of OA at an earlier stage of the disease but also which OA patients are more likely to progress to severe disease. Taking into account the incidence of the mitochondria and the mtDNA haplogroups in the pathogenesis of OA, the main objective of this work was to evaluate the incidence of the mtDNA haplogroups in the radiographic progression of the OA disease in a well-characterized follow-up cohort of Spanish patients. DNA from 281 OA patients from Hospital Universitario A Coruña was isolated to determine the European mtDNA haplogroups. Knee or hip radiographs from all affected joints were obtained at two time points with at least 36 months apart. Radiographs were evaluated using the Kellgren/Lawrence (K/L) scale; radiographic OA progression was defined as any radiographic worsening of the K/L joint score. Statistical analyses included Kaplan–Meier survival curves and Cox regression models. Patients belonging to the cluster TJ showed a slower radiographic OA progression than patients in the cluster KU (p = 0.036). Moreover, patients carrying the most common mtDNA haplogroup H are more apt to require total joint replacement surgery than non-H patients (p = 0.049). The inherited mitochondrial variants influence the radiographic progression of OA and could be considered among the genetic variants taken into account when the radiographic progression of OA is analyzed.

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Fig. 1
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Applied biosystems


American college of Rheumatology


Adenosine triphosphate


Body mass index


Confidence interval


Cartilage intermediate layer protein


Deoxyribonucleic acid


Growth differentiation factor 5


Hazard ratio


Interleukin-1 receptor antagonist


Joint space width


Kellgren and Lawrence


Mitochondrial respiratory chain


Mitochondrial deoxyribonucleic acid




Osteoarthritis initiative


Odds ratio


Oxidative phosphorylation system


Polymerase chain reaction


Restriction fragment length polymorphism


Reactive oxygen species


Single base extension


Single nucleotide polymorphism


Statistical package for the social sciences


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The authors express appreciation to Lourdes Sanjurjo and Maria Dolores Velo and to the Department of Orthopaedic Surgery from the CHU A Coruña. This study was supported by grants from Fundación Española de Reumatologia (programa GEN-SER) and from Fondo Investigación Sanitaria (CIBER- CB06/01/0040)-Spain, Fondo Investigacion Sanitaria-PI 12/329 Ministerio Ciencia en Innovacion PLE2009-0144, with participation of funds from FEDER (European Community). Ignacio Rego-perez was supported by Contrato Miguel Servet-Fondo Investigacion Sanitaria (CP12/03192).

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The authors declare that they have no conflict interest.

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Correspondence to Francisco J. Blanco or Ignacio Rego-Pérez.

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Soto-Hermida, A., Fernández-Moreno, M., Pértega-Díaz, S. et al. Mitochondrial DNA haplogroups modulate the radiographic progression of Spanish patients with osteoarthritis. Rheumatol Int 35, 337–344 (2015).

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  • Mitochondria
  • Haplogroups
  • Osteoarthritis
  • Cartilage
  • Progression
  • K/L grade