Evidence map›Paper›PMID 36855170›Full record

ArticleHuman genomics2023

Global distribution of functionally important CYP2C9 alleles and their inferred metabolic consequences.

Yitian Zhou, Lenka Nevosadová, Erik Eliasson, Volker M Lauschke

Open access · goldAbstract read
In one paragraph

Article in Human genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
14.0field-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

30 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.

  1. Pooled it
  2. Trial
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  5. Article
  6. Review
  7. Review
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  12. Major Allele Frequencies inJournal of personalized medicine · 2025
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  15. Article
  16. Prevalence of risk phenotypes associated withFrontiers in pharmacology · 2025
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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

4 authors at 3 institutions in 2 countries.

Yitian ZhouDivision of Clinical Pharmacology, Department of Laboratory Medicine, Karolinska Institutet, 141 52, Huddinge, Sweden. yitian.zhou@ki.se.
Lenka NevosadováDepartment of Physiology and Pharmacology, Karolinska Institutet, 171 77, Stockholm, Sweden.
Erik EliassonDivision of Clinical Pharmacology, Department of Laboratory Medicine, Karolinska Institutet, 141 52, Huddinge, Sweden.
Volker M LauschkeDepartment of Physiology and Pharmacology, Karolinska Institutet, 171 77, Stockholm, Sweden.
Karolinska Institutet · SEKarolinska University Hospital · SEUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic variability in the cytochrome P450 CYP2C9 constitutes an important predictor for efficacy and safety of various commonly prescribed drugs, including coumarin anticoagulants, phenytoin and multiple non-steroidal anti-inflammatory drugs (NSAIDs). A global map of CYP2C9 variability and its inferred functional consequences has been lacking.

resultsFrequencies of eight functionally relevant CYP2C9 alleles (*2, *3, *5, *6, *8, *11, *13 and *14) were analyzed. In total, 108 original articles were identified that included genotype data from a total of 81,662 unrelated individuals across 70 countries and 40 unique ethnic groups. The results revealed that CYP2C9*2 was most abundant in Europe and the Middle East, whereas CYP2C9*3 was the main reason for reduced CYP2C9 activity across South Asia. Our data show extensive variation within superpopulations with up to tenfold differences between geographically adjacent populations in Malaysia, Thailand and Vietnam. Translation of genetic CYP2C9 variability into functional consequences indicates that up to 40% of patients in Southern Europe and the Middle East might benefit from warfarin and phenytoin dose reductions, while 3% of patients in Southern Europe and Israel are recommended to reduce starting doses of NSAIDs.

conclusionsThis study provides a comprehensive map of the genetic and functional variability of CYP2C9 with high ethnogeographic resolution. The presented data can serve as a useful resource for CYP2C9 allele and phenotype frequencies and might guide the optimization of genotyping strategies, particularly for indigenous and founder populations with distinct genetic profiles.

Indexed as

AnticoagulantsAnti-Inflammatory Agents, Non-SteroidalCytochrome P-450 CYP2C9PhenytoinAllelesAsia, SouthernGenetics, PopulationHumansAnticoagulantsAnti-Inflammatory Agents, Non-SteroidalCYP2C9 protein, humanCytochrome P-450 CYP2C9PhenytoinAllele frequencyMetabolizer phenotypePharmacogenomicsPrecision medicinePrecision public health

Identifiers

PMID36855170
PMCPMC9976394
OpenAlexW4322626568

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.