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Article

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

Nature genetics - 1 Aug 2015

Usher Christina L, Handsaker Robert E, Esko Tõnu, Tuke Marcus A, Weedon Michael N, Hastie Alex R, Cao Han, Moon Jennifer E, Kashin Seva, Fuchsberger Christian, Metspalu Andres, Pato Carlos N, Pato Michele T, McCarthy Mark I, Boehnke Michael, Altshuler David M, Frayling Timothy M, Hirschhorn Joel N, McCarroll Steven A

Abstract excerpt

Hundreds of genes reside in structurally complex, poorly understood regions of the human genome. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) responsible for digesting starch into sugar. Copy number of AMY1 is reported to be the largest genomic influence on obesity, although genome-wide association studies for obesity have found this locus unremarkable. Using whole-genome sequence...

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Identifiers

PMID: 26098870
DOI: 10.1038/ng.3340
PMCID: PMC4712930

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Source receipt: pubmed, retrieved 7 Sept 2026.

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