Abstract

Introduction: The melanocortin receptor 4 (MC4R) participates in the control of appetite at the level of the central nervous system, through the leptin-melanocortin pathway. An association between different polymorphisms of the MC4R gene and obesity has been reported. However,there are few studies of the rs483145 single nucleotide polymorphism (SNP) of this gene.Objective: To investigate its prevalence and association with adiposity markers in Chileanadults.Methods: The prevalence of SNP rs483145, of the MC4R gene, was determined in 259 partici-pants of the GENADIO study (genes, environment, diabetes and obesity) by means of real-time polymerase chain reaction (PCR). The association between the risk allele of MC4R (A) and adiposity markers (body weight, body mass index, fat mass percentage, hip circumference, waist circumference, waist-to-hip ratio) was performed by linear regression analysis and adjusted forconfusion variables (socio-demographic and physic activity) using three statistical models.Results: It was determined that the prevalence of the risk allele (A) of the SNP rs483145 of theMC4R gene is 24.5% in the Chilean adult population included in this study, without finding an association with any of the adiposity markers studied, both in adjusted and unadjusted models.Conclusion: The presence of the risk allele of SNP rs483145 of the MC4R gene is not associated with adiposity markers in the Chilean adult population studied. New studies with a bigger sample size will be necessary to confirm these results.