IP: Andone Estonba Rekalde

Resumen del proyecto: Systemic lupus erythematosus (SLE) is considered as the prototype of systemic autoimmune diseases and is characterised by the presence of autoantibodies and damage in several organs. Lupus incidence in caucasian population is of about 1 in every 2500 people, and it affects mainly women (9 out of 10 patients are females). Using association analysis several genes that confer susceptibility to this disease have been identified, TNFR2, PARP, IL10, PDCD1, complement genes, CR2 and Fcγ receptors among others. Besides, more than 50 chromosomal regions that probably harbour susceptibility genes have been identified using linkage analysis. Despite this recent progress, most mutations and genes involved in the susceptibility to LSE remain unknown. The goal of our research group is to identify susceptibility genes in the Spanish population. We have analysed approximately 1000 SNPs distributed in 56 candidates genes in a preliminary cohort of 100 lupus patients. More markers and patients will be included in the study in the near future. Regarding candidate gene selection, genes have been chosen using different criteria like location in a susceptibility region or involvement in the disease at different levels. SNP selection has been carried out using the HapMap database as well as other public databases. Our group is also interested in the analysis of genetic susceptibility to other autoimmune diseases, such as antiphospholipid syndrome (APS).

Entidad financiadora: Universidad del País Vasco