Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children.

ABSTRACT:

Background

Melanocortin-4-receptor (MC4R) haploinsufficiency is the most common form of monogenic obesity; however, the frequency of MC4R variants and their functional effects in general populations remain uncertain.

Objective

The aim was to identify and characterize the effects of MC4R variants in Hispanic children.

Design

MC4R was resequenced in 376 parents, and the identified single nucleotide polymorphisms (SNPs) were genotyped in 613 parents and 1016 children from the Viva la Familia cohort. Measured genotype analysis (MGA) tested associations between SNPs and phenotypes. Bayesian quantitative trait nucleotide (BQTN) analysis was used to infer the most likely functional polymorphisms influencing obesity-related traits.

Results

Seven rare SNPs in coding and

SUBMITTER: Cole SA 

PROVIDER: S-EPMC2793108 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature