Itziar Zubillaga Azpiroz

In her PhD thesis, presented at the - Department of Genetics, Physical Anthropology and Animal Physiology of the University of the Basque Country (UPV/EHU) (UPV/EHU), researcher Itziar Zubillaga Azpiroz has published a molecular analysis of celiac disease, based on studying the genes involved in the development of this pathology. The results confirm that determining the genetic markers linked to the disease must be considered a valuable tool in the current diagnostic process and might become an alternative to intestinal biopsy for diagnosis in the future.

Entitled “Molecular Genetic Study of Celiac Disease and its Contribution to Diagnosis” this biologist and geneticist at the Molecular Genetics Unit of the Policlínica Gipuzkoa conducted a study of 175 celiac disease patients with the aim of discovering new data on the genetic basis of this disease. It is known that 40% of genetic predisposition to suffer from the disease is due to HLA Class II genes, and the results obtained in this study once again confirm this link, in view of the existence of a genetic imbalance in these genes. In the same way, it has been possible to establish a ranking of the genetic risk of being affected by celiac disease, depending on the genetic make-up of each patient.

The leading practical application of this study consisted of validating the determination of the genetic markers linked to the disease as a diagnostic tool. Combining genetic and serological markers provides a positive predictive value of 100%, since all patients suspected of having celiac disease and submitted to these two markers finally proved to be affected, as confirmed by an intestinal biopsy. These initial results, which must be confirmed by further groups, raise the possibility of avoiding the need for an intestinal biopsy to confirm celiac disease in certain cases in the future.

Celiac disease is a genetically complex autoimmune disorder, caused by a permanent intolerance to the protein in some cereals, that occurs in genetically predisposed individuals. It can be treated effectively by excluding gluten from the diet.