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Mitochondrial DNA haplogroups modulate the serum levels of biomarkers in patients with osteoarthritis
  1. I Rego-Pérez1,
  2. M Fernández-Moreno1,
  3. M Deberg2,
  4. S Pértega1,
  5. C Fernández-López1,
  6. N Oreiro1,
  7. Y Henrotin2,
  8. F J Blanco1,*
  1. 1 INIBIC-Hospital Universitario A Coruña, Spain;
  2. 2 University of Liege, Belgium
  1. Correspondence to: Francisco J Blanco, Reumatology, CHU Juan Canalejo, Xubias, 84, A Coruña, 15006, Spain;{at}


Objective: To analyze the influence of mitochondrial DNA (mtDNA) haplogroups on serum levels of molecular biomarkers in patients with osteoarthritis (OA).

Methods: We analyzed serum levels of molecular biomarkers of cartilage metabolism (collagen type-II markers: Coll2-1, Coll2-1NO2, C2C, CPII), synovial metabolism (hyaluronic acid (HA)) and cartilage and synovial turnover (YKL-40) in 73 OA cases and 77 healthy controls using enzyme-linked immunosorbent assays (ELISAs). All subjects had been previously genotyped for the mtDNA haplogroups J, U and H. Non-parametric and multivariate analysis were performed to test the effects of the clinical variables, including gender, age, smoking status, diagnosis, mtDNA haplogroups and radiologic Kellgren/Lawrence (K/L) grade on the serum levels of the molecular markers.

Results: Non-parametric analysis found increased serum levels of HA in patients with OA, while the values for C2C and the C2C/CPII ratio were significantly higher in the healthy controls. A multiple regression analysis showed a relationship between the mtDNA haplogroups and serum levels of the typical collagen type II markers. Carriers of the mtDNA haplogroup H had higher levels while carriers of the mtDNA haplogroup J showed lower levels. Statistically significant interactions between mtDNA haplogroups and diagnosis and between mtDNA haplogroups and radiologic K/L grade in the serum levels of molecular markers were also found.

Conclusion A new role for mtDNA haplogroups emerges from this work. Our results suggest that the mtDNA haplogroups interact significantly with the serum levels of OA-related molecular markers, suggesting the possibility of their use as a complementary assay with these molecular markers.

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