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Functional Impact of Risk Gene Variants on the Autoimmune Responses in Type 1 Diabetes.


ABSTRACT: Type 1 diabetes (T1D) is an autoimmune disease that develops in the interplay between genetic and environmental factors. A majority of individuals who develop T1D have a HLA make up, that accounts for 50% of the genetic risk of disease. Besides these HLA haplotypes and the insulin region that importantly contribute to the heritable component, genome-wide association studies have identified many polymorphisms in over 60 non-HLA gene regions that also contribute to T1D susceptibility. Combining the risk genes in a score (T1D-GRS), significantly improved the prediction of disease progression in autoantibody positive individuals. Many of these minor-risk SNPs are associated with immune genes but how they influence the gene and protein expression and whether they cause functional changes on a c

SUBMITTER: Gootjes C 

PROVIDER: S-EPMC9114814 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature