Mutational Analysis of the Melanocortin-4 Receptor Gene in Chinese Children with Obesity

Abstract

Objectives. The melanocortin system is involved in physiological regulation of homeostasis. The melanocortin-4 receptor (MC4R) in the hypothalamus is thought to be important in controlling feeding behavior. Genetic studies have identified two mutations, Ser-30-Phe and Asp298-Asn, of MC4-R which are associated with dominant forms of inherited obesity. Methods. In order to examine whether these two mutations are associated, with the development of early-onset obesity in the Chinese population, we used a polymerase chain reaction-base analysis to analyze the MC4R genotypes of 92 obese and 185 non-obese children. Results. No mutations were detected in any of the individuals that were screened in this study. However, two novel polymorphisms, Ile-1O3 and Ile-297, were identified in both obese and normal individuals which were associated with the phenotypes under study. Conclusions. It seems that the Ser-30-Phe and Asp-298-Asn mutations do not contribute to inherited susceptibility to early-onset obesity in Chinese children.