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Journal of Applied Genetics : Volume 52, Issue 2, May 2011

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Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index

Content Provider	Springer Nature Link
Author	Nowacka Woszuk, Joanna Cieslak, Jakub Skowronska, Bogda Majewska, Katarzyna A. Stankiewicz, Witold Fichna, Piotr Switonski, Marek
Copyright Year	2011
Abstract	Extensive studies of the MC4R gene polymorphism showed that, among numerous variants, there are mutations responsible for monogenic obesity, as well as polymorphisms negatively correlated with the risk of obesity. In this report, we present the first studies of the whole coding sequence of the MC4R gene in 243 Polish obese children and adolescents (the mean relative body mass index [RBMI] was 163.6). In addition, 101 non-obese adults were also analyzed. Direct sequencing facilitated the identification of six missense (K73R, V103I, T112M, S127L, M215L, and I251L) and one silent (c.756 C > T) single-nucleotide polymorphisms (SNPs). Two non-synonymous polymorphisms (K73R and M215L) appeared to be novel and one was found in obese patients (M215L, one patient) and one in non-obese adults (K73R, one person). The overall frequency of non-synonymous variant carriers reached 4.1% and 6.9% in obese patients and non-obese adults, respectively. Only one obesity-associated variant (127L) was found in two obese patients (0.82%) and in two non-obese adults (1.98%). The obesity-protecting variants (103I and 251L) appeared to be the most common in both groups: 3.3% and 4.0%, respectively. It was also observed that the RBMI in obese children and adolescents carrying the minor variants did not differ significantly from the non-carriers; however, the expected trends for the associated and protecting variants were observed. We conclude that the contribution of the MC4R gene variants to the pathogenesis of obesity in Polish children and adolescents is low.
Starting Page	319
Ending Page	323
Page Count	5
File Format	PDF
ISSN	12341983
Journal	Journal of Applied Genetics
Volume Number	52
Issue Number	3
e-ISSN	21903883
Language	English
Publisher	Springer-Verlag
Publisher Date	2011-03-15
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Adolescents Children MC4R Mutation Obesity Polish population Polymorphism Microbial Genetics and Genomics Human Genetics Plant Genetics & Genomics Animal Genetics and Genomics Life Sciences
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine

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Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index

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