• A meta-analysis and a functional study support the influence of mtDNA variant m.16519C on the risk of rapid progression of knee osteoarthritis 

      Durán-Sotuela, Alejandro; Fernández-Moreno, Mercedes; Suárez-Ulloa, Victoria; Vázquez-García, Jorge; Relaño, Sara; Hermida-Gómez, Tamara; Balboa-Barreiro, Vanesa; Lourido-Salas, Lucía; Calamia, Valentina; Fernández-Puente, Patricia; Ruiz-Romero, Cristina; Fernández-Tajes, Juan; Vaamonde-García, Carlos; de Andrés, María C.; Oreiro, Natividad; Blanco García, Francisco J; Rego-Pérez, Ignacio (BMJ, 2023-04-06)
      [Abstract] Objectives: To identify mitochondrial DNA (mtDNA) genetic variants associated with the risk of rapid progression of knee osteoarthritis (OA) and to characterise their functional significance using a cellular ...
    • Mitonuclear epistasis involving TP63 and haplogroup Uk: risk of rapid progression of knee OA in patients from the OAI 

      Durán-Sotuela, Alejandro; Oreiro, Natividad; Fernández-Moreno, Mercedes; Vázquez-García, Jorge; Relaño-Fernández, Sara; Balboa-Barreiro, Vanesa; Blanco García, Francisco J; Rego-Pérez, Ignacio (Elsevier, 2024-01-06)
      [Abstract] Objective: To investigate genetic interactions between mitochondrial deoxyribonucleic acid (mtDNA) haplogroups and nuclear single nucleotide polymorphisms (nSNPs) to analyze their impact on the development ...