Obesity is a major health problem worldwide, associated with environment factors but having also a strong genetic component. To date >50 frequent SNPs were found to be associated with obesity-related 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 40-70% 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. Thus, the main objective of this project is to sequence the whole exome of 15 extreme obese individuals (BMI>45kg/m2) from European (CEU) ancestry and to compare all detected genetic variants with those obtained from around 400 CEU control individuals from 1000genomes database. So, an investigate between the association of anthropometric measures related to obesity with low frequency alleles and CNVs detected will be performed. At the end of this study, we expect to identify new candidate loci that can play a key factor in the etiology of obesity.
Coordinator (PI): Raquel Rodríguez-López (HUGV, Spain)
Participants: David Albuquerque (CIAS), Fátima Gimeno Ferrer (FIHGUV),
Carolina Monzó Cataluña (FIHGV), Goitzane Marcaida Benito (HGUV), Marcos Bruna (HGUV), Carlos Sánchez (HGUV), Carola Guzmán Luján (HGUV), Laura Gandía Artigues (HGUV)
Finantial support: Fundación Investigación Hospital Universitario General de Valencia (Spain)