Título: Estudio de las bases genéticas de las enfermedades autoinmunes mediante la estrategia de genes candidatos
IP: Dr. Javier Martín Ibañez
Resumen del proyecto: Several lines of evidence suggest the existence of common genetic elements for predisposition to autoimmune diseases (AIDs), that they include, among others, to pathologies like rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) or inflammatory bowel disease (IBD). The hypothesis of a shared complex genetic base in autoimmunity has been sustained by genome-wide linkage studies, gene expression and by association studies. The general mission of our proposal is to deepen in the knowledge of the common genetic bases of the AIDs, by means of the strategy of candidate genes, selected by its important role in the regulation of the autoimmune/inflammatory response that sublies in these pathologies, as well as by positional criteria. We thought that the genes proposed in our study: DDAH2, TLR5, TLR9, MIF, CD69, HO-1, PTPs, VIP, VPAC1 y CD24fulfill the suitable scientific criteria to be considered excellent candidates. We will perform the identification and functional characterization of polymorphisms of the genes selected with the aim of identifying causal genetic variants of relevance in the susceptibility for the development and progression of the AIDs, mainly RA, SLE and IBD. The development of our objectives could help to the better understanding of the disease pathways in autoimmunity, to allow the identification of biomarkers of risk, diagnosis and progression, as well as to help in the identification of new therapeutic targets.
Entidad financiadora: Instituto de Parasitología y Biomedicina López-Neyra