Beyond genome-wide association studies: new strategies for identifying genetic determinants of scleroderma

Systemic sclerosis (SSc) is a connective tissue disorder characterized by extensive fibrosis in the skin and internal organs, vascular damage and immune imbalance .The onset of SSc depends on the interaction of environmental and genetic factors. In spite of the number of genetic studies that have been already carried out, only around 30% of the total genetic variation involved in SSc predisposition has been identified. Because of this, the general goal of this project is to further elucidate the genetic component of SSc by applying new innovative strategies and technologies such as meta-GWAS, Immunochip (Ichip), Next Generation Sequencing (NGS), pathway analysis, gene-gene interaction, and HLA imputation.
We expect that we will describe novel susceptibility factors associated with the predisposition, severity and clinical spectrum of SSc, increasing our understanding of the fundamentals of SSc pathogenesis.