Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish
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Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents J. Cieslak • K. A. Majewska • A. Tomaszewska B. Skowronska • P. Fichna • M. Switonski
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Received: 22 October 2012 / Accepted: 12 October 2013 / Published online: 20 October 2013 Ó The Author(s) 2013. This article is published with open access at Springerlink.com
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
Electronic supplementary material The online version of this article (doi:10.1007/s11033-013-2808-8) contains supplementary material, which is available to authorized users. J. Cieslak A. Tomaszewska M. Switonski (&) Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland e-mail: [email protected] K. A. Majewska Department of Clinical Auxology and Pediatric Nursing, Poznan University of Medical Sciences, Poznan, Poland Present Address: A. Tomaszewska Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland B. Skowronska P. Fichna Department of Pediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poznan, Poland
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. Keywords Human Obesity MC3R gene Polymorphism Mutation
Introduction 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). Data on the prevalence of childhood obesity and overweight in Europe also indicate their alarming levels in some countries [1]. 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]. It is known that the main type of obesity has a polygenic background, but with a strong influen
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