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 Chilean adults. 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 adi-posity 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 for confusion 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 the MC4R 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.