Polymorphism Val103Ile of the melanocortin-4 receptor gene in the Serbian population

The melanocortin-4 receptor (MC4R) plays an important role in weight and energy homeostasis and it is associated with lower risk to develop obesity and lower body mass index. The contribution of MC4R mutation to obesity in Vojvodina (Northern Province of Serbia), known as a region with the largest number of overweight people, has not been previously investigated. The objective of this study was to examine the Val103Ile polymorphism of MC4R in a population of Vojvodina and its association with obesity. The study was carried out in a group of 96 persons: 62 obese and 34 normal weight men and women. Anthropometric measurements and cardiovascular risk factors assessment were done. The genotypes were determined by PCR-RFLP. In our on going study, three subjects were heterozygous for Val103Ile mutation (3.12%), and one was homozygous for 103Ile allele (1.04%). Among obese patients no isoleucine allele homozygous was found. The frequencies of the 103Ile allele in a group of obese and normal weight persons were found to be 1.61 and 4.41%, respectively. Val103Ile polymorphism of melanocortin-4 receptor is unlikely to be a major cause of overweight and obesity in Vojvodina, but further studies on larger groups of patients are needed.