Abstract

BackgroundLittle is known about the correlation between the melanocortin 4 receptor gene (MC4R) single nucleotide polymorphisms (SNPs) and the risk of obesity. This research sought to test the MC4R rs17782313, rs476828 and rs12970134 SNPs, their haplotypes and gene-environment interactions on the risk of obesity in the Maonan ethnic group, an isolated minority in China.MethodsA case-control study comprised of 1836 participants (obesity group, 858; and control group, 978) was conducted. Genotypes of the three SNPs were determined by the next-generation sequencing (NGS) technology.ResultsThe genotypic frequencies of the three SNPs were different between the obesity and control groups (P < 0.05 for all). The minor allelic frequency of the MC4R rs17782313C, rs476828C and rs12970134A was higher in obesity than in control groups (13.8% vs. 8.3%, P < 0.001, 17.1% vs. 10.9%, P < 0.001; and 15.5% vs. 11.5%, P < 0.001; respectively). Additionally, the dominant model of rs17782313 and rs476828 SNPs revealed an increased morbidity function on the risk of obesity (P < 0.05). A correlation between SNP-environment and the risk of obesity was also observed. The rs17782313C-rs476828C-rs12970134A haplotype was associated with high risk of obesity (OR = 1.796, 95% CI = 1.447–2.229), whereas the rs17782313T-rs476828T-rs12970134G and rs17782313T-rs476828T-rs12970134A haplotypes were associated with low risk of obesity (OR = 0.699, 95% CI = 0.586–0.834 and OR = 0.620, 95% CI = 0.416–0.925; respectively). The interactions between haplotype and waist circumference on the risk of obesity were also noted.ConclusionsWe discovered that the MC4R rs17782313, rs476828 and rs12970134 SNPs and their haplotypes were associated with the risk of obesity in the Chinese Maonan population.

Highlights

  • Obesity represents a serious global health problem (Doak et al 2012)

  • Single nucleotide polymorphism (SNP) selection Three SNPs of melanocortin 4 receptor gene (MC4R) were chosen by the following steps: (1) They were tagging SNPs identified by Haploview (Broad Institute or MIT and Harvard, Cambridge, MA, USA, version 4.2). (2) MC4R rs17782313, rs476828 and rs12970134 SNPs were selected by SHEsis Main

  • The mean values of Body mass index (BMI), waist circumference (WC), systolic blood pressure (SBP), diastolic blood pressure (DBP), total cholesterol (TC), TG and low-density lipoprotein cholesterol (LDL-C) levels and the percentages of subjects who smoked cigarettes were higher while High-density lipoprotein cholesterol (HDL-C) value was lower in obese patients compared to the control subjects (P < 0.05–0.001)

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Summary

Introduction

Obesity represents a serious global health problem (Doak et al 2012). Obesity is a complex disease that is modified by an interaction between genetic and environmental factors (Xi et al 2011). Recent research on the genetic elements that place individuals at risk of obesity has uncovered several contributing factors. A genome-wide association study (GWAS) from 2008 reported that the melanocortin 4 receptor gene (MC4R) was associated with obesity (Loos et al 2008). Little is known about the correlation between the melanocortin 4 receptor gene (MC4R) single nucleotide polymorphisms (SNPs) and the risk of obesity. This research sought to test the MC4R rs17782313, rs476828 and rs12970134 SNPs, their haplotypes and gene-environment interactions on the risk of obesity in the Maonan ethnic group, an isolated minority in China

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