Article
Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus.
PloS one - 15 Nov 2010
Scherag André, Jarick Ivonne, Grothe Jessica, Biebermann Heike, Scherag Susann, Volckmar Anna-Lena, Vogel Carla Ivane Ganz, Greene Brandon, Hebebrand Johannes, Hinney Anke
Abstract excerpt
BACKGROUND: Independent genome-wide association studies (GWAS) showed an obesogenic effect of two single nucleotide polymorphisms (SNP; rs12970134 and rs17782313) more than 150 kb downstream of the melanocortin 4 receptor gene (MC4R). It is unclear if the SNPs directly influence MC4R function or expression, or if the SNPs are on a haplotype that predisposes to obesity or includes functionally relevant genetic...
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