ArticlePharmacogenetics and genomics2019
CYP2D6 haplotypes with enhancer single-nucleotide polymorphism rs5758550 and rs16947 (*2 allele): implications for CYP2D6 genotyping panels.
Article in Pharmacogenetics and genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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.
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.
Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- Examination of Metoprolol Pharmacokinetics and Pharmacodynamics Across CYP2D6 Genotype-Derived Activity Scores.CPT: pharmacometrics & systems pharmacology · 2020Trial
- Influence of CYP2D6 Genotypes and Phenotypes on the Plasma Levels and Clinical Response to Aripiprazole.Schizophrenia bulletin · 2026Article
- A functional ancestry-linked regulatory haplotype influences CYP2D6 expression.The pharmacogenomics journal · 2026Article
- Pharmacogenetic Influences on Individual Responses to Ocular Hypotensive Agents in Glaucoma Patients.Pharmaceutics · 2025Article
- High-coverage whole-genome sequencing of a Jakun individual from the "Orang Asli" Proto-Malay subtribe from Peninsular Malaysia.Human genome variation · 2025Article
- Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo.European journal of clinical pharmacology · 2024Article
- Challenging pharmacotherapy management of a psychotic disorder due to a delicate pharmacogenetic profile and drug-drug interactions: a case report and literature review.Croatian medical journal · 2024Review
- Novel Independent Trans- and Cis-Genetic Variants Associated with CYP2D6 Expression and Activity in Human Livers.Drug metabolism and disposition: the biological fate of chemicals · 2024Article
- Associations between SelectedMedicina (Kaunas, Lithuania) · 2023Article
- Pharmacogenomics: Driving Personalized Medicine.Pharmacological reviews · 2023Review
- A frequent CYP2D6 variant promotes skipping of exon 3 and reduces CYP2D6 protein expression in human liver samples.Frontiers in pharmacology · 2023Article
- The Impact of the CYP2D6 "Enhancer" Single Nucleotide Polymorphism on CYP2D6 Activity.Clinical pharmacology and therapeutics · 2022Article
- Monitoring Plasmodium vivax resistance to antimalarials: Persisting challenges and future directions.International journal for parasitology. Drugs and drug resistance · 2021Review
- Article
- Transfer learning enables prediction of CYP2D6 haplotype function.PLoS computational biology · 2020Article
- Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.PloS one · 2020Article
- Long-Distance Phasing of a Tentative "Enhancer" Single-Nucleotide Polymorphism WithFrontiers in pharmacology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
introductionCYP2D6 metabolizes ∼25% of all clinically used drugs, with numerous genetic polymorphisms affecting enzyme activity and drug response. Clinical utility of current CYP2D6 genotyping is partially compromised the unresolved complex haplotype structure of the CYP2D6 locus. We have identified a distal enhancer single-nucleotide polymorphism rs5758550 that robustly increases CYP2D6 expression, whereas rs16947 (CYP2D6*2), previously considered inert, reduces correct mRNA splicing and expression, thereby affecting presumed activity of other alleles on the *2 haplotype.
objectiveThis study aims to determine the structure and frequency of haplotypes containing either rs5758550 or rs16947, or both, together with other relevant CYP2D6 alleles, assigning predictive enzyme activity scores to each, and addressing ambiguities in estimating diplotypes in different populations.
methodsThe structure and frequency of haplotypes containing rs5758550 and/or rs16947 in different populations were determined by using phased genotype data from 'The 1000 Genomes Project'. The assigned haplotype-phenotype relationship was tested by associating assigned CYP2D6 activity score with CYP2D6 enzyme activity in a cohort of 122 human liver microsomes.
resultsAddition of enhancer single-nucleotide polymorphism rs5758550 and *2 to a CYP2D6 panel improves prediction of CYP2D6 activity. Moreover, the haplotype containing rs5758550 and rs16947 predict extensive CYP2D6 activity more accurately than CYP2D6*2A, a surrogate marker for extensive activity.
conclusionWith further studies, the results support possible incorporation of rs5758550 and rs16947 into CYP2D6 biomarker panels for more accurate prediction of CYP2D6 metabolizer status.
Indexed as
Identifiers
What OpenQuestion holds
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.