Missense mutations and polymorphisms of the <Emphasis Type="Italic">MC4R</Emphasis> gene in Polish obese children and adolescents in relation to the relative body mass index |
| |
Authors: | Joanna Nowacka-Woszuk Jakub Cieslak Bogda Skowronska Katarzyna A Majewska Witold Stankiewicz Piotr Fichna Marek Switonski |
| |
Institution: | 1.Department of Genetics and Animal Breeding,Poznan University of Life Sciences,Poznan,Poland;2.Department of Pediatric Diabetes and Obesity,Poznan University of Medical Sciences,Poznan,Poland;3.Department of Pediatric Nursing,Poznan University of Medical Sciences,Poznan,Poland |
| |
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. |
| |
Keywords: | |
本文献已被 PubMed SpringerLink 等数据库收录! |
|