Research following genome-wide association study focuses on the multifaceted nature of Src kinase-associated phosphoprotein 2 in type 1 diabetes

Abstract

Rutsch et al. identified a patient with type 1 diabetes having a rare Src kinase-associated phosphoprotein 2 variant and investigated the details. As a result, they showed that rare Src kinase-associated phosphoprotein 2 c.475 G>A increases macrophage activity and promotes type 1 diabetes, as well as autoimmune and inflammatory diseases.