Decoding the genetic background of coeliac disease

Biography

Dr Jonkers’ training as a molecular biologist started as a PhD student in the group of Joost Gribnau, at the Erasmus Medical Center in Rotterdam, Netherlands, followed by her postdoctoral training in the USA at Cornell University in the group of John T Lis, focusing on gene expression regulation. Now, she is applying this background to understand how genetics influences gene expression and can lead to coeliac and autoimmune disease. Her research within the genetics department of the University Medical Center, Groningen is funded by a Rosalind Franklin Fellowship.

Abstract

Coeliac disease is an autoimmune disease that is partly caused by the genetic background of the patient. The main genetic risk factors are the HLA-DQ2.5 and HLA-DQ8 locus, which are necessary but not sufficient to cause coeliac disease. These genes encode a protein that facilitates the recognition of gluten peptides by immune cells, which consequently triggers the first steps in inflammation. However, large genetic studies have identified 45 additional genetic loci that each increase the risk for coeliac disease. Still, how these loci contribute to coeliac disease pathology is not well understood. Therefore, our research is focused on elucidating the role of genetics in coeliac disease to increase understanding of the molecular underpinnings of the disease and find targets for alternative treatments for patients with the condition.