Abstract: Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. To identify new SSc susceptibility loci, we conducted the first genome-wide association study in a population of European ancestry including a total of 2,296 individuals with SSc and 5,171 controls. Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22?23, rs2056626, P = 2.09 × 10?7 in the discovery samples, P = 3.39 × 10?9 in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 × 10?18), IRF5 (P = 1.86 × 10?13) and STAT4 (P = 3.37 × 10?9) gene regions as SSc genetic risk factors.

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