Genome-wide association scan in systemic sclerosis identifies MHC region and two additional susceptibility loci On 2q32 and 7q32

Abstract

Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. Accumulating evidence point to a strong genetic component that is underlying the susceptibility of SSc. Here we aimed to identify the genetic factors that underly SSc. Method & Results: To identify the genetic traits for SSc, we performed a genome-wide association study comparing 842 European Caucasian SSc cases with 1711 European Caucasian controls exploiting the Illumina human BeadChip. Using a replication cohort comprising 1640 European Caucasian SSc cases and 1700 controls matched for country of origin we aimed to replicate the 11 most strongly non-MHC associated SNPs in the GWAS and replicated the association of STAT4 (P = 4.03E-10). After stratification for SSc phenotype, significant association (P