Autoimmune diseases and the role of the exposome

Project description

The prevalence of autoimmune diseases in society is rapidly increasing. The concept of autoimmune disease encompasses at least 120 conditions, each relatively rare, but most of us know someone affected. Examples of autoimmune diseases include multiple sclerosis (MS), psoriasis, inflammatory bowel disease, rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), autoimmune hepatitis (AIH), and type 1 diabetes. They have in common that the immune system mistakenly targets and attacks healthy parts of the body, leading to the disease. Autoimmune diseases are primarily affecting women, and we are beginning to see that children and young adults are being more affected as well.

Our genetics cannot solely explain the significant increase in autoimmune diseases and it must be due to other circumstances. Even when considering factors like smoking, obesity, and alcohol, the substantial increase remains unexplained. However, there are indications that chemicals released into our environment may be a contributing factor to the rise. Many of these chemicals, such as perfluorinated substances (PFAS), are used in various products like kitchenware and food packaging. The most common ways we ingest these substances are food, drinking water, and household dust.

Large cohorts are required to understand the role of the environment

Large-scale cohort collections are required to investigate whether there is an interaction between our genetics and the chemicals we have been exposed to in the environment and our diet. An example of such a cohort is EIMS, where nearly 3,400 people with multiple sclerosis and 4,000 control individuals have been collected over 20 years. Another cohort is EpiHealth, with more than 25,000 individuals, aiming to improve understanding of chronic and infectious diseases' prevalence and underlying causes. Common to these cohorts is that they are based on detailed questionnaires and blood samples from the participants. In many cases, the genetic makeup of these individuals has also been measured. For those affected by MS, we also have information on how the disease has progressed for the individual over the past 20 years. We have recently discovered that even in the chronic pain condition fibromyalgia (FM), patients have antibodies that bind to their tissues, called auto-reactive antibodies, indicating that FM may also be an autoimmune disease.

The exposome

To determine if exposure and disease interact, we measure environmental pollutants in all individuals who have developed an autoimmune disease. We will also include those who have or develop chronic pain conditions since we suspect there may be an autoimmune component there as well. However, measuring environmental toxins alone is not enough. We will also measure many other substances, such as hormones, fats, etc., collectively called the exposome, encompassing the totality of exposures.

We expect this project to significantly improve our understanding of the role of the exposome in the development of autoimmune diseases, its potential role in MS disease progression, and whether it is also an essential component in chronic pain conditions. Ultimately, the results may lead to identifying environmental pollutants that need to be subject to stricter regulations to minimize exposures and prevent the development of autoimmune diseases.