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

Sano Hiroyuki | Zendy; Imagawa Akihisa | Zendy

Open Access

Research 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.

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