Evidence map›Paper›PMID 20488169›Full record

ArticleClinica chimica acta; international journal of clinical chemistry2010

CYP2C9 and VKORC1 genotypes in Puerto Ricans: A case for admixture-matching in clinical pharmacogenetic studies.

David Villagra, Jorge Duconge, Andreas Windemuth, Carmen L Cadilla, Mohan Kocherla, Krystyna Gorowski, Kali Bogaard, Jessica Y Renta, Irelys A Cruz, Sara Mirabal and 2 more

Registry-linked trialAbstract read
In one paragraph

Article in Clinica chimica acta; international journal of clinical chemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01318057 (Pharmacogenetics of Warfarin in Puerto Rican Patients Using a Physiogenomics Approach.), which is not on this map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
4.5field-weighted citation impact, top 7% 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.

NCT01318057 completednot on this mapstarted 2011, after this paper: background citation

Pharmacogenetics of Warfarin in Puerto Rican Patients Using a Physiogenomics Approach.

TypeobservationalSponsorUniversity of Puerto RicoRan2011 to 2014Enrolled350ConditionsAtrial Fibrillation, Deep Vein Thrombosis, Cardiac Valvular Insufficiency, Antiphospholipid Syndrome
3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. The Contribution ofIranian journal of pharmaceutical research : IJPR · 2020
    Article
  5. Article
  6. Article
  7. Pharmacogenetics of drug-metabolizing enzymes in US Hispanics.Drug metabolism and personalized therapy · 2015
    Review
  8. Observational
  9. Article
  10. Review
  11. The Emerging Role of Admixture in the Pharmacogenetics of Puerto Rican Hispanics.Journal of pharmacogenomics & pharmacoproteomics · 2010
    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

12 authors at 4 institutions in 2 countries.

David VillagraLaboratory of Personalized Health, Genomas, Inc., Hartford, CT 06106, USA.
Jorge Duconge
Andreas Windemuth
Carmen L Cadilla
Mohan Kocherla
Krystyna Gorowski
Kali Bogaard
Jessica Y Renta
Irelys A Cruz
Sara Mirabal
Richard L Seip
Gualberto Ruaño
University of Puerto Rico, Medical Sciences Campus · PRGenomas (United States) · USHartford Hospital · USHartford Financial Services (United States)

Funding

SUPPLEMENT FOR RENOVATION OF ANIMAL FACILITIES AT INSTITUTE OF NEUROBIOLOGYG12RR003051 · NCRR · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI ESPINO, ANA M · 1986 to 2011
$28.1M
TRANSLATIONAL PROTEOMICS CENTERG12MD007600 · NIMHD · UNIVERSITY OF PUERTO RICO MED SCIENCES · PI FERNANDEZ-REPOLLET, EMMA · 2012 to 2016
$11.0M
NCRR NIH HHS G12 RR003051NCRR NIH HHS G12RR-03051NIMHD NIH HHS G12 MD007600
6 · The paper itself

Abstract

backgroundsAdmixture is of great relevance to the clinical application of pharmacogenetics and personalized medicine, but unfortunately these studies have been scarce in Puerto Ricans. Besides, allele frequencies for clinically relevant genetic markers in warfarin response (i.e., CYP2C9 and VKORC1) have not yet been fully characterized in this population. Accordingly, this study is aimed at investigating whether a correlation between overall genetic similarity and CYP2C9 and/or VKORC1 genotypes could be established.

methods98 DNA samples from Puerto Ricans were genotyped for major CYP2C9 and VKORC1 polymorphisms and tested on a physiogenomic (PG)-array to infer population structure and admixture pattern.

resultsAnalysis affirmed that Puerto Ricans are broadly admixed. A genetic distance dendrogram was constructed by clustering those subjects with similar genetic profiles. Individual VKORC1 and CYP2C9 genotypes were visually overlaid atop the three dendrogram sectors. Sector-1, representing Amerindian ancestry, showed higher VKORC1 -1639G>A variant frequency than the rest of the population (p=0.051). Although CYP2C9*3 allele frequencies matched the expected HapMap values, admixture may explain deviations from published findings regarding VKORC1 -1639G>A and CYP2C9*2 allele frequencies in sector-3.

conclusionsResults suggest that the observed inter-individual variations in ancestral contributions have significant implications for the way each Puerto Rican responds to warfarin therapy. Our findings provide valuable evidence on the importance of controlling for admixture in pharmacogenetic studies of Puerto Rican Hispanics.

Indexed as

PharmacogeneticsAnticoagulantsAryl Hydrocarbon HydroxylasesCytochrome P-450 CYP2C9GenotypeHumansMixed Function OxygenasesPuerto RicoVitamin K Epoxide ReductasesWarfarinAnticoagulantsAryl Hydrocarbon HydroxylasesCYP2C9 protein, humanCytochrome P-450 CYP2C9Mixed Function OxygenasesVitamin K Epoxide ReductasesVKORC1 protein, humanWarfarin

Identifiers

PMID20488169
PMCPMC2903218
OpenAlexW2005815436

What OpenQuestion holds

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Registered trials

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.