IP: Dr. Xavier Formiguera Sala/Dr. Josep Morera Prat

Resumen del proyecto: Obesity is one of the most important problems of public health. It is a multifactor disease resulting from the interaction between environmental factors and genetic background. Recent investigations of obesity have begun to shed light on important aspects of pathogenesis by identifying genetic polymorphism associated with disease. The aim of this study is to analyze different genetic polymorphisms and possible interaction between them in the phenotype Obesity and Obstructive Sleep Apnea Syndrome (OSAS). We will study the presence of polymorphisms in 5 genes: Leptin, Leptin receptor, TNF-alpha, FTO and MCR4. Methods: 195 blood samples from obese individuals (BMI> 30Kg/m2) and 320 from OSAS patients were collected. Both groups represent well-characterized populations with functional and clinical data necessary for the study. On behalf of the study design we will include 500 samples from healthy donors. PCR, PCR-RFLP and PCR-sequencing will be used to analyses the genetic polymorphisms. The knowledge of the genetic characteristics of the obesity would establish a genetic profile in the development of disease that allow us an early detection that would help to establish better and more effective preventive measures. Therefore, reduce the associated morbidity and mortality and health care costs associated with these complications.

Entidad financiadora: Fundació Institut d’Investigació en Ciències de la Salut Germans Trias i Pujol