Functional evaluation of autophagy associated genetic variants in immune cell function in IBD

Summary

Our genes define how well our immune responses work against different infections. Small changes in genes called single nucleotide polymorphisms (SNPs) can change the function of genes. Some SNPs cause genes to function less well. This leads to diseases like inflammatory bowel disease (IBD) in individuals that carry these SNPs.

Autophagy is the process of self-eating. Our immune cells use autophagy to kill and remove bacteria when infected. SNPs in genes related to autophagy are commonly linked to developing IBD. To understand the function of these SNPs and their role in autophagy, we (GSK scientists) plan to take a small amount of blood from volunteers. These volunteers will be identified based on whether they carry the autophagy related SNPs or not.

In a GSK laboratory, we will isolate the immune cells from the blood samples of these volunteers. The immune cells will then be infected with bacteria and we will measure how well the immune cells respond to the infection. We will determine how well the cells kill bacteria and also measure various genes and proteins in the cells. These studies will help GSK design treatments that can improve the health of IBD patients.