Evidence map›Paper›PMID 21995608›Full record

ArticlePharmacogenomics2011

Characterization of genetic variation and natural selection at the arylamine N-acetyltransferase genes in global human populations.

Holly M Mortensen, Alain Froment, Godfrey Lema, Jean-Marie Bodo, Muntaser Ibrahim, Thomas B Nyambo, Sabah A Omar, Sarah A Tishkoff

Open access · greenAbstract read
In one paragraph

Article in Pharmacogenomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed, 2 pooled it
1.2field-weighted citation impact, top 22% 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

27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Human N-acetyltransferase 2 (Frontiers in pharmacology · 2023
    Article
  11. Article
  12. Alteration of the risk of pre-oral cancer and cancer in North Indian population by NAT1 and NAT2 polymorphisms genotypes and haplotypes.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2021
    Article
  13. Article
  14. WEIRD bodies: mismatch, medicine and missing diversity.Evolution and human behavior : official journal of the Human Behavior and Evolution Society · 2020
    Article
  15. Article
  16. Article
  17. Review
  18. Complex Haplotypes ofG3 (Bethesda, Md.) · 2018
    Article
  19. Article
  20. Article
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

8 authors at 7 institutions in 6 countries.

Holly M MortensenDepartment of Biology, University of Maryland, College Park, MD, USA.
Alain Froment
Godfrey Lema
Jean-Marie Bodo
Muntaser Ibrahim
Thomas B Nyambo
Sabah A Omar
Sarah A Tishkoff
Muhimbili University of Health and Allied Sciences · TZInstitut de Recherche pour le Développement · FRKenya Medical Research Institute · KEMinistry of Scientific Research and Innovation · CMResearch Triangle Park Foundation · USUniversity of Khartoum · SDUniversity of Maryland, College Park · US

Funding

African Odyssey: An Integrative Genomics Analysis of Complex Physiologic TraitsDP1OD006445 · OD · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2009 to 2011
$2.4M
African Odyssey: An Integrative Genomics Analysis of Complex Physiologic TraitsDP1ES022577 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2012 to 2013
$1.6M
Variation at Malaria Resistance Genes in AfricansR01GM076637 · NIGMS · UNIV OF MARYLAND, COLLEGE PARK · PI TISHKOFF, SARAH ANNE · 2006 to 2009
$1.2M
NIEHS NIH HHS DP1 ES022577NIGMS NIH HHS R01 GM076637NIGMS NIH HHS R01GM076637NIH HHS DP1 OD006445NIH HHS DP1-OD-006445-01
6 · The paper itself

Abstract

unlabelledFunctional variability at the arylamine N-acetyltransferase genes is associated with drug response in humans and may have been adaptive in the past owing to selection pressure from diet and exposure to toxins during human evolution.

aimsWe have characterized nucleotide variation at the NAT1 and NAT2 genes, and at the NATP1 pseudogene in global human populations, including many previously under-represented African populations, in order to identify potential functional variants and to understand the role that natural selection has played in shaping variation at these loci in globally diverse populations. MATERIALS &

methodsWe have resequenced approximately 2800 bp for each of the NAT1 and NAT2 gene regions, as well as the pseudogene NATP1, in 197 African and 132 nonAfrican individuals. RESULTS &

conclusionWe observe a signature of balancing selection maintaining variation in the 3'-UTR of NAT1, suggesting that these variants may play a functional role that is currently undefined. In addition, we observed high levels of nonsynonymous functional variation at the NAT2 locus that differs amongst ethnically diverse populations.

Indexed as

Genetic Variation3' Untranslated RegionsAfricaAmericasArylamine N-AcetyltransferaseAsiaEuropeHaplotypesHumansIsoenzymesMiddle EastPhenotypePopulationPseudogenesSelection, GeneticSequence Analysis, DNA3' Untranslated RegionsArylamine N-AcetyltransferaseIsoenzymesN-acetyltransferase 1NAT2 protein, humanXenobiotics

Identifiers

PMID21995608
PMCPMC4653814
OpenAlexW2103927572

What OpenQuestion holds

Textmetadata
LicenceTDM
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.