Evidence map›Paper›PMID 31544239›Full record

ReviewClinical pharmacology and therapeutics2020

PharmVar GeneFocus: CYP2D6.

Charity Nofziger, Amy J Turner, Katrin Sangkuhl, Michelle Whirl-Carrillo, José A G Agúndez, John L Black, Henry M Dunnenberger, Gualberto Ruano, Martin A Kennedy, Michael S Phillips and 3 more

Open access · greenAbstract readReview
In one paragraph

Review in Clinical pharmacology and therapeutics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 153 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
153citing papers in PubMed, 7 pooled it
26.6field-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

153 citing papers in PubMed, 7 syntheses or guidelines pooled it, 236 citations in OpenAlex.

  1. Guideline
  2. CYP2D6 Phenotype and Breast Cancer Outcomes: A Bias Analysis and Meta-Analysis.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
    Pooled it
  3. Guideline
  4. Pooled it
  5. Guideline
  6. Guideline
  7. Pooled it
  8. Trial
  9. Trial
  10. Trial
  11. Trial
  12. CYP2D6 Metabolizer Status and Mortality in Metoprolol Users.Clinical and translational science · 2026
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. PharmVar GeneFocus: NAT2-Genetic Variation and Updated Nomenclature.Clinical pharmacology and therapeutics · 2026
    Review
  19. Review
  20. Article

93 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

13 authors at 9 institutions in 3 countries.

Charity NofzigerPharmGenetix GmbH, Niederalm, Austria.ORCID 0000-0002-7550-2633
Amy J TurnerSection of Genomic Pediatrics, Department of Pediatrics, Children's Research Institute, The Medical College of Wisconsin, Milwaukee, Wisconsin, USA.ORCID 0000-0003-0867-7545
Katrin SangkuhlDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Michelle Whirl-CarrilloDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID 0000-0003-2414-9312
José A G AgúndezUniversity Institute of Molecular Pathology Biomarkers, UEx, Cáceres, Spain.ORCID 0000-0001-6895-9160
John L BlackDivision of Laboratory Genetics and Genomics, Personalized Genomics Laboratory, Mayo Clinic Laboratories, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0001-6726-7293
Henry M DunnenbergerMark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanton, Illinois, USA.ORCID 0000-0002-6211-1713
Gualberto RuanoInstitute of Living at Hartford Hospital, Genomas Laboratory of Personalized Health, Hartford, Connecticut, USA.
Martin A KennedyDepartment of Pathology and Biomedical Science, University Otago, Christchurch, New Zealand.ORCID 0000-0002-6445-8526
Michael S PhillipsSequence Bioinformatics Inc, St. John's, Newfoundland, Canada.
Houda HachadTranslational Software, Bellevue, Washington, USA.ORCID 0000-0001-9953-6398
Teri E KleinDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Andrea GaedigkDivision of Clinical Pharmacology, Toxicology, & Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri, USA.ORCID 0000-0001-6968-1893
Stanford University · USBellevue Hospital Center · USChildren's Hospital of Wisconsin · USChildren's Mercy Hospital · USHartford Hospital · USInstituto de Salud Carlos III · ESMayo Clinic · USNorthShore University HealthSystem · USUniversity of Otago · NZ

Funding

PharmGKB: pharmacogenomics knowledge for precision medicineR24GM061374 · NIGMS · STANFORD UNIVERSITY · PI ALTMAN, RUSS BIAGIO, KLEIN, TERI ELLEN · 2010 to 2018
$25.2M
PHARMacogene VARiation ConsortiumR24GM123930 · NIGMS · CHILDREN'S MERCY HOSP (KANSAS CITY, MO) · PI GAEDIGK, ANDREA · 2017 to 2020
$1.9M
NIGMS NIH HHS R24 GM061374NIGMS NIH HHS R24 GM123930
6 · The paper itself

Abstract

The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus. CYP2D6 genetic variation impacts the metabolism of numerous drugs and, thus, can impact drug efficacy and safety. This GeneFocus provides a comprehensive overview and summary of CYP2D6 genetic variation and describes how the information provided by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).

Indexed as

Knowledge BasesPharmacogeneticsCytochrome P-450 CYP2D6Databases, GeneticGenetic VariationHumansPharmaceutical PreparationsPolymorphism, GeneticCytochrome P-450 CYP2D6Pharmaceutical Preparations

Identifiers

PMID31544239
PMCPMC6925641
OpenAlexW4245269458

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.