Abstract:
: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 analysis, droplet digital PCR and genome mapping, we identified eight common structural haplotypes of the amylase locus that suggest its mutational history. We found that the AMY1 copy number in an individual's genome is generally even (rather than odd) and partially correlates with nearby SNPs, which do not associate with body mass index (BMI). We measured amylase gene copy number in 1,000 obese or lean Estonians and in 2 other cohorts totaling ∼3,500 individuals. We had 99% power to detect the lower bound of the reported effects on BMI, yet found no association.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Usher CL,Handsaker RE,Esko T,Tuke MA,Weedon MN,Hastie AR,Cao H,Moon JE,Kashin S,Fuchsberger C,Metspalu A,Pato CN,Pato MT,McCarthy MI,Boehnke M,Altshuler DM,Frayling TM,Hirschhorn JN,McCarroll SAdoi
10.1038/ng.3340subject
Has Abstractpub_date
2015-08-01 00:00:00pages
921-5issue
8eissn
1061-4036issn
1546-1718pii
ng.3340journal_volume
47pub_type
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