Identification of clinically relevant genetic variation in immune-mediated inflammatory diseases using genome-wide approaches

• Autores: Adrià Aterido Ballonga
• Directores de la Tesis: Sara Marsal Barril (dir. tes.), Antonio Julia Cano (codir. tes.)
• Lectura: En la Universitat Pompeu Fabra ( España ) en 2019
• Idioma: español
• Tribunal Calificador de la Tesis: Manuel Comabella López (presid.), Laura Furlong (secret.), Josep Mañé Almero (voc.)
• Programa de doctorado: Programa de Doctorado en Biomedicina por la Universidad Pompeu Fabra
• Materias:
  • Ciencias de la vida
    • Biología humana
      • Genética humana
    • Biología vegetal (botánica)
  • Sociología
    • Problemas sociales
      • Enfermedad
• Enlaces
  • Tesis en acceso abierto en: TDX
• Resumen

  • Rheumatoid arthritis, psoriasis, psoriatic arthritis, systemic lupus erythematosus, Crohn’s disease and ulcerative colitis are six of the most prevalent immune-mediated inflammatory diseases (IMIDs) and are associated with a high socio-economic impact. There is compelling evidence that IMIDs are genetically complex diseases. To date, however, the genetic component of IMIDs has been only partially explained. Identifying new clinically relevant variation is therefore of major clinical interest. The objective of the present thesis was to identify new genetic variation underlying IMIDs. The research activity here presented is the result of analyzing high-throughput genomic data from a large cohort of IMID patients collected by the IMID Consortium. Using genome-wide approaches and functional analyses, we have identified new genetic variants associated to IMID susceptibility, IMID clinical phenotypes and specific treatment outcomes. Taken together, these findings contribute to better understanding the genetic basis of IMIDs and suggest more specific and preventive therapeutic strategies.