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Intestinal inflammatory diseases: susceptibility and pharmacogenetic markers

14th national competition for scientific and technical research

Genetic and pharmacogenetic markers

Senior Researcher : María Elena Urcelay García

Research Centre or Institution : Hospital Universitario Clínico San Carlos. Madrid.


Crohn's disease and ulcerative colitis are chronic inflammatory bowel diseases of unknown causation. Both are considered multifactor autoimmune diseases, caused by environmental factors in patients with a genetic predisposition. Not only are there differences between the two, but each can also present very different clinical characteristics in different people, making them extremely heterogeneous. The main goal of this project is to identify the new genetic factors associated with the risk of developing inflammatory bowel diseases, by studying genes selected from candidates applying positional and functional criteria. By way of a case-control study with samples from 800 patients suffering from ulcerative colitis and Crohn's disease and 600 healthy control subjects, we will verify whether the different clinical forms of inflammatory bowel diseases correspond to a specific genetic makeup. That is, whether or not the disease develops in a specific way in the presence of a certain combination of susceptibility genes. The pharmacogenetics of the inflammatory bowel diseases will also be studied: the relationship between genetic determinants and response to the treatment and the appearance of adverse side effects. We hope, perhaps in the near future, that research into the relationship between the genotype and the clinical phenotype (anatomic location; how the disease reacts, both in the course it takes and its response to the different treatments; age of the patient when the disease commences; gender; etc.) will make it possible to predict the clinical progress, complications and prognosis of the disease, thus anticipating the natural course of inflammatory bowel diseases.

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