Melanocortin-4 Receptor Polymorphisms in Turkish Pediatric Obese Patients

Abstract

The most common Melanocortin-4 receptor (MC4R) missense variant Val103Ileu (rs2229616) is related to obesity. In this study, we examined the distribution of MC4R polymorphisms both in the clinical pediatric obese group and in the high/lowsocioeconomic school group. 24 probable exogene obese children without family history (group I), 66 probable familial obese children (group II), and 111 complicated obese children (group III) were included. Groups I and II obese participants were gathered in a school-based epidemiologic study and compared with 49 apparently healthy non-obese controls. Significant difference in genotype distribution was observed between the groups I and II. Val 103 Ile polymorphism was more common among group III (4.5%). Furthermore, we detected Glu 42 Lys (18.18%) polymorphism in our population, which was not previously reported. Frequency of Val 103 Ile (A) allele polymorphism was 0.75 and 2.25; Glu 42 Lys A allele polymorphism was 9.0 and 1.5, in groups II and III, respectively. None of the MC4R mutations were found in high-socioeconomic school and in control groups. Our data indicated that MC4R polymorphisms were more frequent both in clinical pediatric obese group and in low-socioeconomic school group. In addition, our data revealed that carrying the polymorphism may increase the hereditary form of obesity.

Melanocortin-4 Receptor and Lipocalin 2 Gene Variants in Spanish Children with Abdominal Obesity: Effects on BMI-SDS after a Lifestyle Intervention

“…In our population, we found one extremely obese participant (BMI-SDS +4.04) carrying the MC4R mutation Glu42Lys. This mutation was previously reported in 5.6% of Turkish children with obesity [37]. In our case, the minor allele frequency (MAF) for this mutation was 0.89%.…”

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

“…However, there is no such data from Turkey. The single study of MC4R in obese Turkish children was on evaluation of two polymorphisms ( 8 ).…”

Association between rs1421085 and rs9939609 Polymorphisms of Fat Mass and Obesity-Associated Gene with High-Density Lipoprotein Cholesterol and Triglyceride in Obese Turkish Children and Adolescents

“…Present studies were based on that the MC4R gene Val103Ileu (rs2229616), c.870DelG, c.496G > A, and c.346_347DelAG variants, and a case study report was based on the FTO wide C812A > C variant. [21][22][23] The monogenic forms of obesity are described in only 3 to 5% of severe European obesity, and these are caused by pathogenic mutations in genes directly affecting the leptin-melanocortin pathway. MC4R is one of the essential genes involved in this pathway.…”