GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.

ABSTRACT: Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vascul

SUBMITTER: Lopez-Isac E 

PROVIDER: S-EPMC6823490 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature