A rare polymorphism in the gene for Toll‐like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators

Abstract

Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated with antitopoisomerase positivity, the diffuse form of the disease, and the development of PAH. In addition, this variant influences TLR-2-mediated cell responses. Further research is needed to elucidate the precise role of TLR-2 in the pathogenesis of SSc.