IP: Dr. Javier Martín Ibáñez

Resumen del proyecto: Systemic sclerosis (SSc) is a rare autoimmune disorder with a complex aetiology in which environmental and genetic factors interact for the development of the disease. The genetic factors contributing to SSc susceptibility are still poorly understood. Our group had performed the first genome wide association study (GWAS) in Caucasian SSc patients (Nature Genetics 2010, 42(5): 426–429). The GWAS is based on the analysis of a dense array of genetic markers, capturing a substantial proportion of common variation in the human genome, in a well characterized group of patients and healthy individuals to map susceptibility effects through the detection of association between genotype frequency an disease status.

Thus, the aim of this project is follow-up replication studies to confirm the most interesting findings in independent cases-controls cohorts, fine-mapping studies to pin-point the casual variant, as well as functional studies to dissect the implication of the genetic variants in gene function and disease development, will be performed. This research strategy will provide the characterization of genetic markers involved in susceptibility and/or phenotype of SSc, that have the potential to improve our understanding of the disease pathogenesis, and may provide novel diagnostic, and more specific and effective therapeutic strategies in the management of this disease.

Entidad financiadora: Ministerio de Ciencia e Innovación