REVIEW – August 2016

FTO locus and its association with obesity

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Abstract

Genome-wide association studies have been a successful approach for identifying novel disease associated genetic loci. However, the vast majority of discovered genetic associations are located in the non-coding regulatory regions of the genome, which means that it is not very straightforward to identify the causal gene behind the association. Recent studies have shown that obesity-linked variants in the FTO regioon affect the gene expression of neighbouring homeobox IRX3 and IRX5 genes, which play an important role in the early stages of neural development and the expression of which is related to body weight and composition. This kind of breakthrough studies will provide a strategy for interpreting the results of genome-wide association research, as well as will ensure a better understanding of the biological mechanisms behind diseases.