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Home » Proyectos de investigación » Factores genéticos de susceptibilidad para el desarrollo de enfermedad de Crohn.
Título: Factores genéticos de susceptibilidad para el desarrollo de enfermedad de Crohn.
IP: Dr. Miquel Sans Cuffi
Resumen del proyecto: rohn's disease (CD) is a highly prevalent condition, with more than 50.000 patients in Spain and more than 750.000 iin Europe. CD develops in genetically predisposed subjects. In the last 2 years 6 GWAS studies, published in Nature, Science, Nature Genetics, Gastroenterology, and PLOs One, have identified 30 SNPs that confer susceptibility to develop CD. In 2008 the authors of the 6 previously mentioned studies joined efforts and created the "International Consortium for the Study of IBD Genetics", that gathers 25 groups, opinion leaders in the field of IBD Genetics throughout the World, to be able to obtain a cohort of 15.000 CD cases and 20.000 - 25.000 healthy controls, representing all the World geographic areas, to address the following aims: 1) To validate the recently described CD susceptibility SNPs. 2) To identify new CD susceptibility SNPs (that, just for a reason of statistical power, could not be identified in previous, individual studies) 3) To describe geographic differences in CD susceptibility SNPs distribution. The first and third aims, that only require to genotype the 30 SNPs of interest, already count on the required funding (mainly from ECCO: European Crohn's ajnd Colitis Organization, also other minor sources) and will be inmediately undertaken (all samples will be genotyped, in 3 sites, in October 2009). To undertake the second aim, that requires to GWAS (if not done previously) samples, funding has already been requested to Wellcome Trust and other agencies.
Entidad financiadora: Wellcome Trust
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University of Salamanca
Nucleus
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Junta de Castilla y León
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