Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1193 | Obesity | ICEECE2012

Melanocortin 4 receptor genetics in defining the morbid obesity in general population: common polymorphisms vs mutations

Klovins J. , Ignatovica V. , Schioth H. , Pirags V.

Since the discovery of melanocortin 4 receptor (MC4R) as an important regulator of food intake it has been recognised as one of the major monogenic factors of obesity. However the mutations identified are usually very rare, not found in control subjects from the background population and can explain only a minor part of heritability (2–3%). Here we explore the role of non-synonymous mutations identified by MC4R sequencing in cohort of 380 severely obese individuals (BMI 3...