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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

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 o...

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Autores principales: Cieslak, J., Majewska, K. A., Tomaszewska, A., Skowronska, B., Fichna, P., Switonski, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835951/
https://www.ncbi.nlm.nih.gov/pubmed/24142065
http://dx.doi.org/10.1007/s11033-013-2808-8
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author Cieslak, J.
Majewska, K. A.
Tomaszewska, A.
Skowronska, B.
Fichna, P.
Switonski, M.
author_facet Cieslak, J.
Majewska, K. A.
Tomaszewska, A.
Skowronska, B.
Fichna, P.
Switonski, M.
author_sort Cieslak, J.
collection PubMed
description 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 MATERIAL: The online version of this article (doi:10.1007/s11033-013-2808-8) contains supplementary material, which is available to authorized users.
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spelling pubmed-38359512013-11-22 Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents Cieslak, J. Majewska, K. A. Tomaszewska, A. Skowronska, B. Fichna, P. Switonski, M. Mol Biol Rep Article 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 MATERIAL: The online version of this article (doi:10.1007/s11033-013-2808-8) contains supplementary material, which is available to authorized users. Springer Netherlands 2013-10-20 2013 /pmc/articles/PMC3835951/ /pubmed/24142065 http://dx.doi.org/10.1007/s11033-013-2808-8 Text en © The Author(s) 2013 https://creativecommons.org/licenses/by/2.0/ Open AccessThis article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Article
Cieslak, J.
Majewska, K. A.
Tomaszewska, A.
Skowronska, B.
Fichna, P.
Switonski, M.
Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents
title Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents
title_full Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents
title_fullStr Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents
title_full_unstemmed Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents
title_short Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents
title_sort common polymorphism (81val>ile) and rare mutations (257arg>ser and 335ile>ser) of the mc3r gene in obese polish children and adolescents
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835951/
https://www.ncbi.nlm.nih.gov/pubmed/24142065
http://dx.doi.org/10.1007/s11033-013-2808-8
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