Functional Genetics to Understand the Etiology of Autoimmunity.

ABSTRACT: Common variants strongly influence the risk of human autoimmunity. Two categories of variants contribute substantially to the risk: (i) coding variants of HLA genes and (ii) non-coding variants at the non-HLA loci. We recently developed a novel analytic pipeline of T cell receptor (TCR) repertoire to understand how HLA coding variants influence the risk. We identified that the risk variants increase the frequency of auto-reactive T cells. In addition, to understand how non-coding variants contribute to the risk, the researchers conducted integrative analyses using expression quantitative trait loci (eQTL) and splicing quantitative trait loci (sQTL) and demonstrated that the risk non-coding variants dysregulate specific genes' expression and splicing. These studies prov

SUBMITTER: Hatano H 

PROVIDER: S-EPMC10048754 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature