Evidence map›Paper›PMID 25788522›Full record

ArticleHuman molecular genetics2015

Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.

Danielle Carpenter, Sugandha Dhar, Laura M Mitchell, Beiyuan Fu, Jess Tyson, Nzar A A Shwan, Fengtang Yang, Mark G Thomas, John A L Armour

Open access · hybridAbstract read
In one paragraph

Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed
12.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

65 citing papers in PubMed, 135 citations in OpenAlex.

  1. Trial
  2. Trial
  3. Trial
  4. Article
  5. Review
  6. Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. High-Resolution FISH Analysis Using DNA Fibers Generated by Molecular Combing.Methods in molecular biology (Clifton, N.J.) · 2024
    Article
  19. Review
  20. Article

5 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Danielle CarpenterSchool of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK.
Sugandha DharSchool of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK.
Laura M MitchellSchool of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK.
Beiyuan FuWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK and.
Jess TysonSchool of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK.
Nzar A A ShwanSchool of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK.
Fengtang YangWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK and.
Mark G ThomasResearch Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, UK.
John A L ArmourSchool of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK, john.armour@nottingham.ac.uk.
University of Nottingham · GBQueen's Medical Centre · GBWellcome Sanger Institute · GBUniversity College London · GB

Funding

Biotechnology and Biological Sciences Research Council BB/I006370/1Wellcome Trust WT098051
6 · The paper itself

Abstract

The human salivary amylase genes display extensive copy number variation (CNV), and recent work has implicated this variation in adaptation to starch-rich diets, and in association with body mass index. In this work, we use paralogue ratio tests, microsatellite analysis, read depth and fibre-FISH to demonstrate that human amylase CNV is not a smooth continuum, but is instead partitioned into distinct haplotype classes. There is a fundamental structural distinction between haplotypes containing odd or even numbers of AMY1 gene units, in turn coupled to CNV in pancreatic amylase genes AMY2A and AMY2B. Most haplotypes have one copy each of AMY2A and AMY2B and contain an odd number of copies of AMY1; consequently, most individuals have an even total number of AMY1. In contrast, haplotypes carrying an even number of AMY1 genes have rearrangements leading to CNVs of AMY2A/AMY2B. Read-depth and experimental data show that different populations harbour different proportions of these basic haplotype classes. In Europeans, the copy numbers of AMY1 and AMY2A are correlated, so that phenotypic associations caused by variation in pancreatic amylase copy number could be detected indirectly as weak association with AMY1 copy number. We show that the quantitative polymerase chain reaction (qPCR) assay previously applied to the high-throughput measurement of AMY1 copy number is less accurate than the measures we use and that qPCR data in other studies have been further compromised by systematic miscalibration. Our results uncover new patterns in human amylase variation and imply a potential role for AMY2 CNV in functional associations.

Indexed as

AmylasesDNA Copy Number VariationsGene OrderGenetic LociHaplotypesHumansObesityPancreatic alpha-AmylasesSalivary alpha-AmylasesStarchAmylasesPancreatic alpha-AmylasesSalivary alpha-AmylasesStarch

Identifiers

PMID25788522
PMCPMC4498156
OpenAlexW2155319238

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.