ArticlePloS one2014
Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Trial
- Genes Involved in Susceptibility to Obesity and Emotional Eating Behavior in a Romanian Population.Nutrients · 2024Article
- The Influence ofInternational journal of environmental research and public health · 2022Article
- Identification of p.Met215Ile mutation of theClinical case reports · 2021Article
- Effect of interaction between obesity-promoting genetic variants and behavioral factors on the risk of obese phenotypes.Molecular genetics and genomics : MGG · 2021Article
- Insulin resistance-associated genetic variants in type 1 diabetes.Journal of diabetes and its complications · 2021Article
- Genomics of body fat distribution.Journal of genetics · 2021Review
- Gene- diet interaction of 18q21.23 rs17782313 locus and dietary patterns in regulation of hypothalamic-pituitary axis hormones and cardio-metabolic risk factors in obesity.Eating and weight disorders : EWD · 2020Article
- A Comprehensive Genome-Wide and Phenome-Wide Examination of BMI and Obesity in a Northern Nevadan Cohort.G3 (Bethesda, Md.) · 2020Article
- The Effect Sizes ofGenes · 2020Article
- The MC4R genetic variants are associated with lower visceral fat accumulation and higher postprandial relative increase in carbohydrate utilization in humans.European journal of nutrition · 2019Article
- Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.The Journal of clinical endocrinology and metabolism · 2019Article
- MC4R variant rs17782313 and manifestation of obese phenotype in Pakistani females.RSC advances · 2018Article
- Impact of the Polymorphism NearJournal of human kinetics · 2017Article
- A GWAS follow-up of obesity-related SNPs in SYPL2 reveals sex-specific association with hip circumference.Obesity science & practice · 2016Article
- Genetic variants influencing effectiveness of exercise training programmes in obesity - an overview of human studies.Biology of sport · 2016Review
- Practical Experience of the Application of a Weighted Burden Test to Whole Exome Sequence Data for Obesity and Schizophrenia.Annals of human genetics · 2016Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
Common genetic variants 3' of MC4R within two large linkage disequilibrium (LD) blocks spanning 288 kb have been associated with common and rare forms of obesity. This large association region has not been refined and the relevant DNA segments within the association region have not been identified. In this study, we investigated whether common variants in the MC4R gene region were associated with adiposity-related traits in a biracial population-based study. Single nucleotide polymorphisms (SNPs) in the MC4R region were genotyped with a custom array and a genome-wide array and associations between SNPs and five adiposity-related traits were determined using race-stratified linear regression. Previously reported associations between lower BMI and the minor alleles of rs2229616/Val103Ile and rs52820871/Ile251Leu were replicated in white female participants. Among white participants, rs11152221 in a proximal 3' LD block (closer to MC4R) was significantly associated with multiple adiposity traits, but SNPs in a distal 3' LD block (farther from MC4R) were not. In a case-control study of severe obesity, rs11152221 was significantly associated. The association results directed our follow-up studies to the proximal LD block downstream of MC4R. By considering nucleotide conservation, the significance of association, and proximity to the MC4R gene, we identified a candidate MC4R regulatory region. This candidate region was sequenced in 20 individuals from a study of severe obesity in an attempt to identify additional variants, and the candidate region was tested for enhancer activity using in vivo enhancer assays in zebrafish and mice. Novel variants were not identified by sequencing and the candidate region did not drive reporter gene expression in zebrafish or mice. The identification of a putative insulator in this region could help to explain the challenges faced in this study and others to link SNPs associated with adiposity to altered MC4R expression.
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