Abstract
The predisposing role to human obesity of the MC3R gene polymorphism is controversial. In this report we present the first study focused on the search for the MC3R polymorphism in the Polish population. Altogether 257 obese children and adolescents (RBMI>120) and 94 adults, who were never obese or overweight (BMI<25), were studied. For all subjects the entire coding sequence was analyzed by direct DNA sequencing. One common polymorphism (81Val>Ile) and two rare mutations (257Arg>Ser and 335Ile>Ser) were identified. The common polymorphism was widely distributed in the obese and control cohorts, while the mutations were identified in four obese subjects only. In case of the 335Ile>Ser substitution a three-generation family, consisting of 20 members, was also analyzed. It was found that all carriers of the 335Ser mutation were obese, but among non-carriers obese subjects also were found. Our study suggests that the predisposing effect to obesity of the 81Ile polymorphic variant is rather unlikely. With regard to the studied rare mutations we suggest that the 335Ser allele may have a small predisposing effect.Electronic supplementary materialThe online version of this article (doi:10.1007/s11033-013-2808-8) contains supplementary material, which is available to authorized users.
Highlights
Obesity and overweight constitute an increasingly important medical problem in adults, as well as children and adolescents
The common polymorphism was widely distributed in the obese and control cohorts, while the mutations were identified in four obese subjects only
With regard to the studied rare mutations we suggest that the 335Ser allele may have a small predisposing effect
Summary
Obesity and overweight constitute an increasingly important medical problem in adults, as well as children and adolescents. In the USA 17 % children and adolescents aged 2–19 years are obese and this incidence rate has tripled since 1980 (http://www.cdc.gov/obesity/childhood/ data.html). In Poland the prevalence of overweight and obesity, estimated on a group of 17,573 children and adolescents (aged 6–19 years, in the years 2007–2009), was 18.7 and 14.1 % in boys and girls, respectively [2]. Extensive genomic studies focused on the identification of genes predisposing to obesity revealed presence of more than 50 loci, which polymorphisms are associated with obesity traits [4]. Among them the most important polymorphisms were identified within or in a close vicinity of the FTO and MC4R genes [3]. These two genes were studied in Polish obese children and adolescents.
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