Functional Genetics to Understand the Etiology of Autoimmunity

Hiroaki Hatano, Kazuyoshi Ishigaki

Research output: Contribution to journalReview articlepeer-review

4 Citations (Scopus)

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 provided novel insight into the immunological consequences of two major genetic risks, and we will introduce these research achievements in detail in this review.

Original languageEnglish
Article number572
JournalGenes
Volume14
Issue number3
DOIs
Publication statusPublished - 2023 Mar
Externally publishedYes

Keywords

  • TCR
  • V2F
  • eQTL
  • immunogenetics
  • sQTL

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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