Genome-wide analyses for precision medicine in gastrointestinal disorders

Functional gastrointestinal disorders (FGIDs) impact digestive function and lead to common symptoms, like abdominal pain. Their causes are multifactorial, but poorly understood, limiting diagnosis and treatment options. This thesis focused on two FGIDs, irritable bowel syndrome (IBS) and gastroparesis (GP), to uncover genetic risk factors. It found that genetic defects affecting sucrose absorption were more prevalent in IBS patients, suggesting personalised diets could help. It also revealed genetic differences in severe IBS cases and links between IBS and heart diseases. For GP, potential genes related to immune and motor dysfunctions were identified. These findings offer insights for future therapies.