期刊
NATURE GENETICS
卷 47, 期 8, 页码 921-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3340
关键词
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资金
- National Human Genome Research Institute [R01 HG006855]
- Estonian Ministry of Science and Education [SF0180142s08]
- Development Fund of the University of Tartu (SP1GVARENG)
- European Regional Development Fund [3.2.0304.11-0312, 313010]
- US National Institutes of Health [R01 DK075787, DK062370]
- European Research Council [SZ-50371-GLUCOSEGENES]
- Wellcome Trust [WT097835MF]
- Medical Research Council [G0601261, G0500070] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0611-10099] Funding Source: researchfish
- MRC [G0601261, G0500070] Funding Source: UKRI
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [R01HG006855] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R56DK062370, U01DK062370, R01DK075787, P30DK020572, R01DK062370] Funding Source: NIH RePORTER
Hundreds of genes reside in structurally complex, poorly understood regions of the human genome(1-3). 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(4), although genome-wide association studies for obesity have found this locus unremarkable. Using whole-genome sequence analysis(3,5), droplet digital PCR6 and genome mapping(7), 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 similar to 3,500 individuals. We had 99% power to detect the lower bound of the reported effects on BMI4, yet found no association.
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