The role of the PREPL gene in the development of obesity.

Obesity is currently one of the most prevalent diseases worldwide. Genetic research has already identified several genetic variants that contribute to the development of the disease. However, these variants currently only explain about 1.5% of variance in BMI, demonstrating that a large number of the genetic factors involved remain unknown. Research into structural variations can possibly identify new candidate genes that can contribute to this so-called "missing heritability". Previous research from our group has identified a microdeletion containing the PREPL gene in an obese patient, indicating that this gene might be important in the pathophysiology of obesity. Therefore, we aim to study the role of PREPL in obesity further in the current research proposal through screening of a large population of obese children and adolescents, as well as a group of healthy, lean subjects, in search of additional carriers of the PREPL-containing deletion and carriers of loss-of-function mutations in this gene. With this research, we will therefore be able to contribute considerably to the knowledge about the development of obesity.

Keywords:MICRODELETIONS, MUTATIONS, OBESITY, GENETICS

Disciplines:Genetics, Systems biology, Endocrinology and metabolic diseases, Molecular and cell biology