June 30th, 2015
The number of copies of the AMY1 gene has been reported to influence metabolic response to diet, although this locus has been difficult to study. In a recent study published in Nature Genetics, Steve McCarroll and Joel Hirschhorn of the Broad Institute and Harvard Medical School and their colleagues show that eight common sets of genetic variants, or haplotypes, almost entirely explain the number of amylase gene copies in an individual. Yet to their surprise, there was no discernible relationship between obesity and copy number. The findings offer insights that could guide future investigations of other structurally complex loci in the genome.