IP: Dr. Javier Martín Ibáñez

Resumen del proyecto: Despite the considerable advance in knowledge of the genetic component of the Systemic sclerosis (SSc), a high percentage of genes is still unknown involved in this disease. For this reason, we propose to carry out a meta-GWAS of high statistical power (which will include more than 10,000 SSc patients) to identify new genetic risk factors for this pathology. This study, which includes a large number of samples, will also allow us to solidly address the relationship of genes with the most severe clinical forms of SSc: pulmonary fibrosis and pulmonary arterial hypertension. Likewise, we intend to deepen our knowledge of the possible functional implications of these genes, through an exhaustive study of regulatory variants (known as eQTLs). We also propose the sequencing of genes of the type 1 interferon route, which has a special relevance in the pathophysiology of the disease, in order to identify rare variants of this pathway involved in the disease. We will also evaluate if with the obtained results a predictive model of efficient genetic risk can be developed to suffer from SSc or any of its complications. Without a doubt, the development of the project will increase Relevant knowledge of the pathophysiological bases of SSc, with clear implications in the identification of new therapies.

Entidad financiadora: Ministerio de Economía y Competitividad