IP: Jesús Argente Oliver

Resumen del proyecto: This project aims to characterize the molecular basis and the genes implicated in patients with morbid obesity of early onset (before 3 years of age) in a Spanish population being followed at the University Hospital Niño Jesús and CIBER of pathophysiology of obesity and nutrition. An initial approximation in 150 patients selected by analysis of candidate genes, epigenetic variants and molecular karyotype in micromatrices of SNPs has identified several altered genomic regions consisting of point mutations or copy number variants (CNVs) in patients (one or two probands in the initial cohort) and not present either in available controls nor in public databases (1000 genomes, ESV). Now we have designed a method (by capture and ultrasequencing) in order to extend these studies to a larger available cohort (a total of 500 patients with the same criteria), as well as a similar number of controls that they do not exhibit the phenotype studied. We wish to demonstrate the existence of genetic variants that are exclusive or clearly associated to persons with the obese phenotype, according to different models of inheritance. The genetic studies and data analysis will be done in the laboratory of Genetics at the University Pompeu Fabra.

Entidad financiadora: Instituto de Sauld Carlos III. Ministerio de Ciencia e Innovación.