Celiac disease (CeD) is widely known as one of the most common intestinal inflammatory diseases, and there are many limitations when it comes to diagnosis and treatment. The only current standard of treatment available is a strict gluten-free diet – for life. 

An international study looking to expand the understanding and explore the molecular characteristics of celiac disease identified several hub immune-related genes (HIGs) – meaning, genes highly associated with the disease. This new study, published in Human Genomics, uncovered that these genes play a pivotal role in regulating celiac disease’s immune response. 

How did they do it? 

Using an independent CeD-related set of data with 110 celiac patients and 22 healthy controls (people who do not have celiac disease) from the UK and Northern Ireland, scientists analyzed differentially expressed genes (activated genes that have a specific purpose). Combining the results of three machine learning algorithms (a type of Artificial Intelligence used to analyze data), it was determined that three genes (MR1, CCL25, and TNFSF13B) could be identified as HIGs.  

The CeD patients were divided into two subgroups to determine how much their immune systems reacted and their risk of disease. Based on how their immune systems behaved, these groups of people were characterized as having a high or low immune response.  

From this, an immune genes score (IG) was calculated and used to determine each patient’s risk to develop celiac disease.  

What did they find? 

Patients with high IG scores were found to be from the high immune response group, suggesting that there is a strong connection between the hub immune-related genes and the immune response in celiac patients.  

What does this mean? What does this change? 

Well, this is exciting for the future of celiac disease. Not only did the study highlight a potential (novel) tool for diagnosis, but it also proposes that in targeting the highlighted HIGs, potential targeted treatments for celiac disease may be on the horizon. 

 Keep reading to learn more about the study. 

Your experience with celiac disease is critical to ongoing disease research efforts. Add your data to our iCureCeliac® patient registry today. iCureCeliac® is the Foundation’s patient-powered tool that is the single best resource for celiac disease researchers around the world helping to accelerate the search for treatments and a cure. iCureCeliac® has powered numerous research studies about celiac disease and is the key contributor of patients to a number of critical clinical trials for celiac disease drugs.