Article
The Type 1 Diabetes-Associated Single Nucleotide Polymorphism rs1990760 in IFIH1 Is Associated with Increased Basal Type I IFNs and IFN-stimulated Gene Expression.
Journal of immunology (Baltimore, Md. : 1950) - 15 Nov 2024
Taylor Jared P, Blum Samuel I, Graffeo Hollis C, Shang Qiao, Qiu Shihong, Green Todd J, Botta Davide, Lund Frances E, Tse Hubert M
Abstract excerpt
Type 1 diabetes (T1D) is a chronic autoimmune disease that is caused by a combination of genetic and environmental risk factors. In this study, we sought to determine whether a known genetic risk factor, the rs1990760 single nucleotide polymorphism (SNP) (A946T) in IFIH1, resulted in a gain of function in the MDA5 protein and the effects of this mutation on the regulation of type I IFNs during infection with the...
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