Evidence map›Paper›PMID 40004542›Full record

ArticleGenes2025

The Association Between Promoter Tandem Repeat Polymorphism (pVNTR) and CYP2C9 Gene Expression in Human Liver Samples.

Abelardo D Montalvo, Yan Gong, Joseph M Collins, Danxin Wang

Abstract read
In one paragraph

Article in Genes, 2025. 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

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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. Article
  4. Genes · 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.

Abelardo D MontalvoDepartment of Pharmacotherapy and Translational Research, College of Pharmacy, Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville, FL 32610, USA.ORCID 0000-0003-4314-1295
Yan GongDepartment of Pharmacotherapy and Translational Research, College of Pharmacy, Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville, FL 32610, USA.ORCID 0000-0002-8218-1620
Joseph M CollinsDepartment of Pharmacotherapy and Translational Research, College of Pharmacy, Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville, FL 32610, USA.
Danxin WangDepartment of Pharmacotherapy and Translational Research, College of Pharmacy, Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville, FL 32610, USA.ORCID 0000-0002-7134-3065

Funding

Training Program for Applied Research and Development in Genomic MedicineT32HG008958 · NHGRI · UNIVERSITY OF FLORIDA · PI Larisa Humma Cavallari, Stephen E. Kimmel · 2018 to 2026
$3.8M
Expression genetics of pharmacogenesR35GM140845 · NIGMS · UNIVERSITY OF FLORIDA · PI Danxin Wang · 2021 to 2026
$2.2M
NHGRI NIH HHS T32 HG008958NIGMS NIH HHS R35 GM140845
6 · The paper itself

Abstract

CYP2C9 metabolizes approximately 20% of clinically administered drugs. Several single-nucleotide polymorphisms (SNPs) of CYP2C9 (e.g., *2, *3, *8, and rs12777823) are used as biomarkers to predict CYP2C9 activity. However, a large proportion of variability in CYP2C9 expression remains unexplained. BACKGROUND/

objectivesWe previously identified a variable number tandem repeat (pVNTR) polymorphism in the CYP2C9 promoter. The short repeat (pVNTR-S) showed reduced transcriptional activity in reporter gene assays and was associated with decreased CYP2C9 mRNA expression. However, because pVNTR-S is in high linkage disequilibrium (LD) with CYP2C9*3 in the European population, whether pVNTR-S directly impacts CYP2C9 expression remains unclear. The objective of this study was to clarify the association between the pVNTR-S and CYP2C9 mRNA expression in human liver samples and to assess its impact on CYP2C9 expression independently of known CYP2C9 biomarkers.

methodsGene expression was measured by real-time qPCR. SNPs and pVNTRs were genotyped using SNapShot assays and fragment analysis, respectively. Associations between CYP2C9 and the pVNTR-S or SNPs were analyzed using multiple linear regression.

resultsOur results showed that pVNTR-S was associated with lower CYP2C9 expression (34% reduction,

Indexed as

Cytochrome P-450 CYP2C9LiverMinisatellite RepeatsPromoter Regions, GeneticAdultFemaleHumansLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotideCYP2C9 protein, humanCytochrome P-450 CYP2C9CYP2C9cytochrome P450gene expressionpromotertandem repeat polymorphism

Identifiers

PMID40004542
PMCPMC11855013

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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.