The first in-depth analysis of how genetic variants involved in immune diseases affect the function of regulatory T cells has been conducted by scientists at the Wellcome Sanger Institute and their collaborators.
Pathogens – artistic impression. Image credit: Max Pixel, CC0 Public Domain
The study, published in Cell Genomics, identified 91 unique genes that play an essential role in immune diseases, such as asthma and Crohn’s disease, by influencing how regulatory T cells function. It lays the groundwork for understanding the modulation of gene expression in these cells, providing valuable data on which to build future studies and pursue new treatments.
Regulatory T cells (Tregs) are a relatively rare immune cell type that plays a key role in controlling the human immune response. Previous studies have linked genetic variants that affect Treg function to immune diseases like type-1 diabetes and rheumatoid arthritis. These associations have been supported by studies that have found that immune disease patients carry Tregs that do not function properly or are present in odd numbers.
This evidence suggests that identifying how genetic variants modulate Treg function could have important clinical implications. However, due to the rarity of Tregs and the difficulty of culturing them in a lab, there are significant gaps in our knowledge that this new research sought to address.
For this study, researchers at the Wellcome Sanger Institute isolated Tregs from 124 healthy individuals to map how genetic variants regulated genes' expression and the cells' function. These data were then cross-referenced against variants associated with increased risk of developing immune diseases1 in order to hone in on the genes that play pivotal roles in disease pathogenesis.
Genetic variants predisposing individuals to immune diseases were linked to 91 genes, 31 of which were explicitly impaired in Tregs but not in other resistant cell types investigated by the researchers.
Source: Sanger Institute