IP: Dra. Raquel Rodríguez-López

Resumen del proyecto: Obesity is a major health problem worldwide, associated with environmental factors and an important genetic component. To date more than 60 frequent SNPs were found to be associated with obesityrelated traits by genome-wide association studies (GWAS). SNP GWAS have provided valuable insights into the genetic basis of obesity however, all together explain only 2-3% of BMI variation, far from the 4070% estimated heritability of obesity. It has recently been suggested that rare and low frequency alleles, as well as copy number variants (CNVs) could contribute to the lack of missing heritability in the genetic basis of obesity. However, these types of variation are not captured in current GWAS. This drawback can be overcome by the advent of Next-Generation sequencing (NGS) technology. Using this new technology, we have been able to identified more than 20 genes possibly associated with obesity by whole-exome sequencing in 20 severely obese patients (data unpublished yet). Thus, the main objective of this project is to validate these previous genes identified by our group in a new sample (case-control approach), to investigate their possible association with anthropometric measures related to obesity.

Entidad financiadora: Ministerio de Economía, Industria y Competitividad