Open AccessResearch following genome‐wide association study focuses on the multifaceted nature of Src kinase‐associated phosphoprotein 2 in type 1 diabetes
Author(s) -
Sano Hiroyuki,
Imagawa Akihisa
Publication year - 2022
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.13744
Subject(s) - genome wide association study , medicine , candidate gene , type 2 diabetes , genetic association , immunology , gene , bioinformatics , diabetes mellitus , genetics , single nucleotide polymorphism , biology , endocrinology , genotype
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.