Approved Research

The role of claudin variants in the pathogenesis of complex diseases

Lay summary

Our research aims to understand what causes complex diseases. Unlike some diseases that are caused by a single gene mutation, complex diseases arise from the interplay of multiple factors, making their origins more intricate and challenging to understand. We are interested in the role of gene-environment interactions in complex diseases. These interactions occur when our genes interact with various environmental factors, such as diet, air pollution, and contaminated water.

To explore these interactions, we are focusing on a specific gene family called claudins. Claudins are present in all organs, cavities, and blood vessels of our body, acting as essential "gatekeepers" that maintain the barriers separating our internal and external environments. These barriers are vital for keeping our tissues in balance and ensuring normal bodily functions. Research tells us that claudins are less able to fulfill their gatekeeper role in people with certain complex diseases, but whether claudin shortcomings are causing the disease or are a consequence of the disease is not known.

Our study aims to fill this knowledge gap by studying the claudin DNA sequences of all people in the UK Biobank and seeing if changes in claudin DNA are associated with a particular complex disease. We will study many complex diseases, including, but not limited to, kidney disease, inflammatory bowel disease, asthma, birth defects, and preterm birth. Additionally, we will also determine if exposure to particular environmental factors, such as air pollution, for example, causes more people with these changes in claudin DNA sequences to have the disease.

By understanding how claudin gene-environment interactions contribute to complex diseases, we can identify individuals at higher risk and implement preventive strategies early on. Moreover, this knowledge may lead to the development of personalized treatments, improving the effectiveness of medical interventions, and ultimately enhancing the well-being of the population affected by these challenging conditions. Our research endeavours to pave the way for a healthier future by shedding light on the intricate mechanisms underlying complex diseases and informing public health initiatives and medical advancements.