• Machine-learning predicted and actual 2-year structural progression in the IMI-APPROACH cohort 

      Jansen, Mylène P.; Wirth, Wolfgang; Bacardit, Jaume; van Helvoort, Eefje M.; Marijnissen, Anne C.A.; Kloppenburg, Margreet; Blanco García, Francico J; Haugen, Ida K.; Berenbaum, Francis; Ladel, Christoph H.; Loef, Marieke; Lafeber, Floris P.J.G.; Welsing, Paco M.J.; Mastbergen, Simon C.; Roemer, Frank W. (AME, 2023-05)
      [Abstract] In the Innovative Medicine’s Initiative Applied Public-Private Research enabling OsteoArthritis Clinical Headway (IMI-APPROACH) knee osteoarthritis (OA) study, machine learning models were trained to predict the ...
    • Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1 

      Cortes, Adrian; Pulit, Sara L.; Leo, Paul J.; Pointon, Jenny J.; Robinson, Philip C.; Weisman, Michael H.; Ward, Michael; Gensler, Lianne S.; Zhou, Xiaodong; Garchon, Henri-Jean; Chiocchia, Gilles; Nossent, Johannes; Lie, Benedicte A.; Øystein, Førre; Tuomilehto, Jaako; Laiho, Kari; Bradbury, Linda A.; Elewaut, Dirk; Burgos-Vargas, Rubén; Stebbings, Simon; Appleton, Louise; Farrah, Claire; Lau, Jonathan; Haroon, Nigil; Mulero, Juan; Blanco García, Francisco J; González-Gay, Miguel Á.; López-Larrea, Carlos; Bowness, Paul; Gaffney, Karl; Gaston, Hill; Gladman, Dafna D.; Rahman, Proton; Maksymowych, Walter P.; Crusius, Bart A.; van der Horst-Buinsma, Irene E.; Valle-Oñate, Raphael; Romero-Sánchez, Consuelo; Hansen, Inger Myrnes; Pimentel-Santos, Fernando M.; Inman, Robert D.; Martín, Javier; Breban, Maxime; Wordsworth, Bryan Paul; Reveille, John D.; Evans, David M.; Bakker, Paul I.W. de; Brown, Matthew A. (Nature, 2015-05-21)
      [Abstract] Article Open Access Published: 21 May 2015 Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1 Adrian Cortes, Sara L. Pulit, Paul J. ...
    • Meta-analysis of erosive hand osteoarthritis identifies four common variants that associate with relatively large effect 

      Styrkarsdottir, Unnur; Stefansdottir, Lilja; Thorleifsson, Gudmar; Stefansson, Olafur A.; Saevarsdottir, Saedis; Lund, Sigrun H.; Rafnar, Thorunn; Hoshijima, Kazuyuki; Novak, Kendra; Oreiro, Natividad; Rego-Pérez, Ignacio; Hansen, Channing; Kazmers, Nikolas; Kiemeney, Lambertus A.; Blanco García, Francisco J; Barker, Tyler; Kloppenburg, Margreet; Jurynec, Michel J.; Gudbjartsson, Daniel F.; Jonsson, Helgi; Thorsteinsdottir, Unnur; Stefansson, Kari (BMJ, 2023-03-17)
      [Abstract] Objectives: Erosive hand osteoarthritis (EHOA) is a severe subset of hand osteoarthritis (OA). It is unclear if EHOA is genetically different from other forms of OA. Sequence variants at ten loci have been ...
    • Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations 

      Márquez, Ana; Kerick, Martin; Zhernakova, Alexandra; Gutiérrez-Achury, Javier; Chen, Wei-Min; Onegut-Gumuscu, Suna; González-Álvaro, Isidoro; Rodríguez-Rodríguez, Luis; Ríos-Fernández, Raquel; González-Gay, Miguel Á.; Mayes, Maureen D.; Raychaudhuri, Soumya; Rich, Stephen S.; Wijmenga, Cisca; Martín, Javier (BMC, 2018-12-20)
      [Abstract] Background. In recent years, research has consistently proven the occurrence of genetic overlap across autoimmune diseases, which supports the existence of common pathogenic mechanisms in autoimmunity. The ...
    • Mitochondria and Mitophagy: Biosensors for Cartilage Degradation and Osteoarthritis 

      Blanco García, Francisco J; Rego-Pérez, Ignacio (Elsevier, 2018-05-29)
    • Mitochondrial activity is modulated by TNFα and IL-1β in normal human chondrocyte cells 

      López-Armada, María José; Caramés, Beatriz; Martín, M.A.; Cillero-Pastor, B.; Lires-Dean, M.; Fuentes Boquete, Isaac Manuel; Arenas, J.; Blanco García, Francisco J (Elsevier, 2006-05-05)
      [Abstract] Objective. Pro-inflammatory cytokines play an important role in osteoarthritis (OA). In osteoarthritic cartilage, chondrocytes exhibit an alteration in mitochondrial activity. This study analyzes the effect of ...
    • Mitochondrial biogenesis: a potential therapeutic target for osteoarthritis 

      Blanco García, Francisco J; Fernández-Moreno, Mercedes (Elsevier, 2020-05-14)
      [Abstract] Mitochondrial dysfunction of human articular chondrocytes is considered a hallmark of cartilage degradation and OA pathogenesis. Due to the huge number of cellular processes in which mitochondria is implicated, ...
    • Mitochondrial DNA (mtDNA) haplogroups and serum levels of anti-oxidant enzymes in patients with osteoarthritis 

      Fernández-Moreno, Mercedes; Soto-Hermida, Ángel; Pértega-Díaz, Sonia; Oreiro, Natividad; Fernández-López, Carlos; Rego-Pérez, Ignacio; Blanco García, Francisco J (BioMed Central, 2011-11-22)
      [Abstract] Background: Oxidative stress play a main role in the initiation and progression of the OA disease and leads to the degeneration of mitochondria. To prevent this, the chondrocytes possess a well-coordinated ...
    • Mitochondrial DNA (mtDNA) haplogroups influence the progression of knee osteoarthritis: data from the Osteoarthritis Initiative (OAI) 

      Soto-Hermida, Ángel; Fernández-Moreno, Mercedes; Oreiro, Natividad; Fernández-López, Carlos; Pértega-Díaz, Sonia; Cortés-Pereira, Estefanía; Rego-Pérez, Ignacio; Blanco García, Francisco J (PLoS, 2014-11-12)
      [Abstract] OBJECTIVE: To evaluate the influence of the mtDNA haplogroups on knee osteoarthritis progression in Osteoarthritis Initiative (OAI) participants through longitudinal data from radiographs and magnetic resonance ...
    • Mitochondrial DNA (mtDNA) haplogroups J and H are differentially associated with the methylation status of articular cartilage: potential role in apoptosis and metabolic and developmental processes 

      Cortés-Pereira, Estefanía; Fernández-Tajes, Juan; Fernández-Moreno, Mercedes; Vázquez-Mosquera, María E.; Relaño, Sara; Ramos-Louro, Paula; Durán-Sotuela, Alejandro; Dalmao-Fernández, Andrea; Oreiro, Natividad; Blanco García, Francisco J; Rego-Pérez, Ignacio (Wiley, 2019-02-12)
      [Abstract] Objective. To analyze the influence of mitochondrial genome variation on the DNA methylome of articular cartilage. Methods. DNA methylation profiling was performed using data deposited in the NCBI Gene ...
    • Mitochondrial DNA from osteoarthritic patients drives functional impairment of mitochondrial activity: a study on transmitochondrial cybrids 

      Dalmao-Fernández, Andrea; Hermida Gómez, Tamara; Lund, Jenny; Vázquez-Mosquera, María E.; Rego-Pérez, Ignacio; Garesse, Rafael; Blanco García, Francisco J; Fernández-Moreno, Mercedes (Elsevier, 2022-05)
      [Abstract] With the redefinition of osteoarthritis (OA) and the understanding that the joint behaves as an organ, OA is now considered a systemic illness with a low grade of chronic inflammation. Mitochondrial dysfunction ...
    • Mitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in Spanish population 

      Fernández Caggiano, Mariana; Barallobre-Barreiro, Javier; Rego-Pérez, Ignacio; Crespo-Leiro, María Generosa; Paniagua-Martín, María J.; Grille Cancela, Zulaika; Blanco García, Francisco J; Doménech, Nieves (Elsevier, 2013-03-23)
      [Abstract] Idiopathic dilated cardiomyopathy (IDC) is a structural heart disease with strong genetic background. The different single nucleotide polymorphisms (SNPs) that constitute mitochondrial haplogroups could play an ...
    • Mitochondrial DNA haplogroups associated with MRI-detected structural damage in early knee osteoarthritis 

      Rego-Pérez, Ignacio; Blanco García, Francisco J; Roemer, Frank W.; Guermazi, Ali; Ran, Di; Ashbeck, Erin L.; Fernández Moreno, Mercedes; Oreiro, Natividad; Hannon, Michael J.; Hunter, David J.; Kwoh, Kent (Elsevier, 2018-07-20)
      [Abstract] Objective: Magnetic resonance imaging (MRI)-detected structural features are associated with increased risk of radiographic osteoarthritis (ROA). Specific mitochondrial DNA (mtDNA) haplogroups have been associated ...
    • Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts: a meta-analysis and functional study 

      Fernández-Moreno, Mercedes; Soto-Hermida, Ángel; Vázquez-Mosquera, María E.; Cortés-Pereira, Estefanía; Relaño, Sara; Hermida Gómez, Tamara; Pértega-Díaz, Sonia; Oreiro, Natividad; Fernández-López, Carlos; Garesse, Rafael; Blanco García, Francisco J; Rego-Pérez, Ignacio (BMJ, 2016-12-05)
      [Abstract] Objective To evaluate the influence of the mitochondrial DNA (mtDNA) haplogroups in the risk of incident knee osteoarthritis (OA) and to explain the functional consequences of this association to identify potential ...
    • Mitochondrial DNA Impact on Joint Damaged Process in a Conplastic Mouse Model After Being Surgically Induced With Osteoarthritis 

      Scotece, Morena; Rego-Pérez, Ignacio; Lechuga-Vieco, Ana Victoria; Centeno, Alberto; Jiménez-Gómez, María Concepción; Filgueira-Fernández, P.; Vaamonde-García, Carlos; Enríquez, José Antonio; Blanco García, Francisco J (Nature, 2021-04-27)
      [Abstract] It has been suggested that mitochondrial dysfunction and mtDNA variations may contribute to osteoarthritis (OA) pathogenesis. However, the causative link to support this claim is lacking. Here, we surgically-induced ...
    • Mitochondrial DNA in Osteoarthritis Disease 

      Blanco García, Francisco J; Rego-Pérez, Ignacio (Springer, 2020-09-25)
      [Abstract] Osteoarthritis (OA) is the most prevalent chronic joint disease, and we actually know that the activation of maladaptive responses to injury, including pro-inflammatory pathways, leads to the loss of normal ...
    • Mitochondrial genetics and epigenetics in osteoarthritis 

      Rego-Pérez, Ignacio; Durán-Sotuela, Alejandro; Ramos-Louro, Paula; Blanco García, Francisco J (Frontiers, 2020-01-17)
      [Abstract] During recent years, the significant influence of mitochondria on osteoarthritis (OA), the most common joint disease, has been consistently demonstrated. Not only mitochondrial dysfunction but also mitochondrial ...
    • Mitochondrial haplogroups define two phenotypes of osteoarthritis 

      Fernández-Moreno, Mercedes; Soto-Hermida, Ángel; Oreiro, Natividad; Pértega-Díaz, Sonia; Fernández-López, Carlos; Rego-Pérez, Ignacio; Blanco García, Francisco J (Frontiers, 2012-05-11)
      [Abstract] Objective: To assess a mitochondrion-related phenotype in patients with osteoarthritis (OA). Methods: Serum levels of the following OA-related biomarkers: matrix metalloproteinase-1 (MMP-1); MMP-3; MMP-13; ...
    • Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy 

      Fernández Caggiano, Mariana; Barallobre-Barreiro, Javier; Rego-Pérez, Ignacio; Crespo-Leiro, María Generosa; Paniagua-Martín, María J.; Grille Cancela, Zulaika; Blanco García, Francisco J; Doménech, Nieves (PLoS, 2012-08-28)
      [Abstract] Background. Since mitochondria are the principal source of reactive oxygen species (ROS), these organelles may play an important role in ischemic cardiomyopathy (IC) development. The mitochondrial genome may ...
    • Mitochondrial Respiratory Chain Dysfunction Modulates Metalloproteases -1, -3 and -13 in Human Normal Chondrocytes in Culture 

      Cillero-Pastor, B.; Rego-Pérez, Ignacio; Oreiro, Natividad; Fernández-López, Carlos; Blanco García, Francisco J (BioMed Central, 2013-08-09)
      [Abstract] Background. Mitochondrion has an important role in the osteoarthritis (OA) pathology. We have previously demonstrated that the alteration of the mitochondrial respiratory chain (MRC) contributes to the inflammatory ...