Genome-wide association studies (GWAS) have iden- tified several immune-related loci associated with systemic sclerosis (SSc), which clearly supports the idea that the im- mune system plays an important role in the disease etiology. We thus report for the first time the association of IL12RB1 with SSc and add a novel IL-12 pathway–related gene to the list of SSc susceptibility loci. These results highlight the special relevance of this pathway in SSc pathophysiology and its integra- tion in the SSc genetic susceptibility context and suggest that blocking this pathway could be a possible new therapeutic target in an orphan disease such as scleroderma.
Identification of IL12RB1 as a novel systemic sclerosis susceptibility locus.
LUNARDI, Claudio;
2014-01-01
Abstract
Genome-wide association studies (GWAS) have iden- tified several immune-related loci associated with systemic sclerosis (SSc), which clearly supports the idea that the im- mune system plays an important role in the disease etiology. We thus report for the first time the association of IL12RB1 with SSc and add a novel IL-12 pathway–related gene to the list of SSc susceptibility loci. These results highlight the special relevance of this pathway in SSc pathophysiology and its integra- tion in the SSc genetic susceptibility context and suggest that blocking this pathway could be a possible new therapeutic target in an orphan disease such as scleroderma.
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