27/06/2011

The polymorphism rs179247 is associated with susceptibility to develop Graves' disease, as evidenced by the results of a study in which collaborate Ricard Pujol-Borrell, head of Immunologyn group at Vall d'Hebron Institut de Recerca (VHIR) and Roger Colobran, postdoctoral researcher of the Laboratory of Immunobiology for Research and Diagnostic Applications of Blood and Tissue Bank (BST) and the Foundation Institute Research on Health Sciences Germans Trias i Pujol.The work, published in the latest issue of Human Molecular Genetics, analized the frequency of 54 polymorphisms in a group of 137 patients with Graves' disease and 192 healthy controls, and have identified ten variants associated to this pathology. "In fact there are ten polymorphisms, but they are all in the same area of the gene, from the promoter to intron 1. In addition, these variants had a certain linkage disequilibrium", explains Dr. Colobran. Of these variants, the polymorphism rs179247, located in intron 1 of the TSHR gene, is appearing more frequently in the analysis, what means is the one with most relevance in the development of Graves' disease.