Evidence map›Paper›PMID 31389673›Full record

ArticleMolecular genetics & genomic medicine2019

Results and challenges of Cytochrome P450 2D6 (CYP2D6) testing in an ethnically diverse South Florida population.

Daria Salyakina, Sharmeen Roy, Weize Wang, Mailin Oliva, Rohan Akhouri, Ileana Sotto, Nicole Mulas, Rafaela Solano, José R Fernández, Stephanie Sanchez and 3 more

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics & genomic medicine, 2019. 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
1.0field-weighted citation impact, top 23% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026
    Review
  3. Associations between SelectedMedicina (Kaunas, Lithuania) · 2023
    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

13 authors at 3 institutions in 1 country.

Daria SalyakinaResearch Institute, Nicklaus Children's Hospital, Miami, Florida.ORCID 0000-0003-3283-3691
Sharmeen RoyResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Weize WangResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Mailin OlivaResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Rohan AkhouriResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Ileana SottoResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Nicole MulasResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Rafaela SolanoResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
José R FernándezDepartment of Nutrition Sciences, University of Alabama at Birmingham, Birmingham, Alabama.
Stephanie SanchezResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Uzma ShamshadResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Chad PerlynResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Jennifer McCafferty-FernandezResearch Institute, Nicklaus Children's Hospital, Miami, Florida.
Miami Children's Hospital · USFlorida International University · USUniversity of Alabama at Birmingham · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThis study focuses on the implementation of CYP2D6 genetic test profiling and the challenges associated with using standard pharmacogenetics panels in a diverse South Florida population.

methodsA total of 413 participants were recruited to participate in this study through Nicklaus Children's Hospital. Buccal swabs were collected and tested using an extended CYP2D6 panel including 22 alleles. Phenotype, genotype, and allelic frequencies were compared among different racial and ethnic groups.

resultsThe majority of participants (75.0%) self-identified as Hispanics. Four alleles, CYP2D6*4, *17, *41, and *2A, showed a statistically significant difference between White Hispanics and Black Non-Hispanics. Aggregate frequency of all alleles with decreased function varied between 2.8% and 50.0% in different racial and ethnic groups. Additionally, rare allele combinations were observed in this South Florida cohort.

conclusionsThe heterogeneity among Hispanic groups demonstrated in previous literature and by this study reflects the complexity of ethnicity and suggests that a more granular categorization is needed, one based on ancestry and migration history rather than primary language. Overall, we have determined that there are statistically significant differences in CYP2D6 allele frequencies in the distinct racial and ethnic populations of South Florida, demonstrating a unique genetic makeup within South Florida. However, overall, the frequencies of Poor Metabolizer, Normal Metabolizer, Intermediate Metabolizer, and Ultrarapid Metabolizer did not differ between racial and ethnic groups at a statistically significant level.

Indexed as

Gene FrequencyAdolescentAdultAllelesChildChild, PreschoolCytochrome P-450 CYP2D6EthnicityFloridaGenotypeHumansInfantPharmacogeneticsPhenotypePolymorphism, Single NucleotideRacial GroupsCytochrome P-450 CYP2D6CYP2D6ethnicityHispanicintermediate metabolizersnormal metabolizerspharmacogeneticspoor metabolizersraceultrarapid metabolizers

Identifiers

PMID31389673
PMCPMC6732280
OpenAlexW2964416621

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.