In this review, we will describe the mechanisms of UTR regulation, and the role of genetic variants in modulating RNA processing and thus protein production in human disease. We will then give an overview of the GWAS results linked to UTR regions, and discuss an example of a genetic variant in the 3′UTR of TNFSF13B affecting the risk of autoimmune diseases and related immune phenotypes.17 We conclude by presenting several open questions about UTR mechanisms.
