Evidence map›Paper›PMID 41432551›Full record

ReviewClinical pharmacology and therapeutics2026

PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.

Georgia Papanikolaou, Estella S Poloni, José A G Agúndez, Raquel L F Teixeira, Erin C Boone, Adalberto Rezende Santos, Michelle Whirl-Carrillo, Katrin Sangkuhl, Teri E Klein, Mariam R Habil and 5 more

Abstract readReview
In one paragraph

Review in Clinical pharmacology and therapeutics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Impact ofBiomolecules · 2026
    Article
  4. 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

15 authors.

Georgia PapanikolaouDepartment of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece.ORCID 0000-0001-7039-8913
Estella S PoloniDepartment of Genetics and Evolution (GENEV), Institute of Genetics and Genomics Geneva (iGE3), University of Geneva, Geneva, Switzerland.ORCID 0000-0002-8465-003X
José A G AgúndezUniversidad de Extremadura, University Institute of Molecular Pathology Biomarkers, Cáceres, Spain.ORCID 0000-0001-6895-9160
Raquel L F TeixeiraLaboratory of Molecular Biology Applied to Mycobacteria, Oswaldo Cruz Institute, FIOCRUZ, Rio de Janeiro, RJ, Brazil.ORCID 0000-0003-3029-6159
Erin C BooneDivision of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Research Institute (CMRI), Kansas City, Missouri, USA.ORCID 0000-0003-3044-5521
Adalberto Rezende SantosLaboratory of Molecular Biology Applied to Mycobacteria, Oswaldo Cruz Institute, FIOCRUZ, Rio de Janeiro, RJ, Brazil.ORCID 0000-0002-9514-4589
Michelle Whirl-CarrilloDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0003-2414-9312
Katrin SangkuhlDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0001-7880-5843
Teri E KleinDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0001-5527-6475
Mariam R HabilDepartment of Pharmacology & Toxicology, University of Louisville School of Medicine, Louisville, Kentucky, USA.ORCID 0000-0001-9205-6076
Giannoulis FakisDepartment of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece.ORCID 0000-0003-1613-3943
Rodney F MinchinSchool of Biomedical Sciences, The University of Queensland, Brisbane, Queensland, Australia.ORCID 0000-0002-3178-4835
David W HeinDepartment of Pharmacology & Toxicology, University of Louisville School of Medicine, Louisville, Kentucky, USA.ORCID 0000-0003-3261-9775
Sotiria Boukouvala *Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece.ORCID 0000-0002-3162-5375
Andrea Gaedigk *Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Research Institute (CMRI), Kansas City, Missouri, USA.ORCID 0000-0001-6968-1893

Funding

Superfund Training CoreP42ES023716 · NIEHS · UNIVERSITY OF LOUISVILLE · PI O'TOOLE, TIMOTHY E · 2017 to 2025
$18.1M
NIEHS NIH HHS P42 ES023716
6 · The paper itself

Abstract

The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N-acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines. Systematic nomenclature describing NAT2 variation is essential for pharmacogenetic testing, genotype interpretation, and translation to phenotype in research and clinical settings. This GeneFocus provides an overview of NAT2 variation and describes important changes to its star allele-based nomenclature that were made as it was transitioned to PharmVar in March 2024. We also highlight and discuss challenges regarding the characterization of allelic variation and determination of allele frequencies across world populations. The "new" NAT2 PharmVar nomenclature is utilized by ClinPGx (formerly PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).

Indexed as

Arylamine N-AcetyltransferaseGenetic VariationPharmacogenomic VariantsTerminology as TopicGene FrequencyGenotypeHumansPharmacogeneticsArylamine N-AcetyltransferaseNAT2 protein, human

Identifiers

PMID41432551
PMCPMC12997514

What OpenQuestion holds

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LicenceCC BY-NC
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.