ArticleHuman mutation2019
Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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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.
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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.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing.Clinical pharmacology and therapeutics · 2021Guideline
- The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.European journal of human genetics : EJHG · 2026Article
- Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6.NPJ genomic medicine · 2026Article
- French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten.Clinical pharmacology and therapeutics · 2025Review
- Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia.Scientific reports · 2024Article
- A call for increased inclusivity and global representation in pharmacogenetic testing.NPJ genomic medicine · 2024Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Characterization ofPharmacogenomics · 2023Article
- The Evaluation ofMetabolites · 2023Article
- Copy number variations of cytochromeAsian biomedicine : research, reviews and news · 2023Article
- COX-1, COX-2 and CYP2C19 variations may be related to cardiovascular events due to acetylsalicylic acid resistance.Molecular biology reports · 2022Article
- Methodology for clinical genotyping of CYP2D6 and CYP2C19.Translational psychiatry · 2021Article
- PharmVar GeneFocus: CYP2C9.Clinical pharmacology and therapeutics · 2021Review
- Deletion ofCold Spring Harbor molecular case studies · 2021Article
- PharmVar GeneFocus: CYP2C19.Clinical pharmacology and therapeutics · 2021Review
- Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.Clinical and translational science · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
The human CYP2C locus harbors the polymorphic CYP2C18, CYP2C19, CYP2C9, and CYP2C8 genes, and of these, CYP2C19 and CYP2C9 are directly involved in the metabolism of ~15% of all medications. All variant CYP2C19 and CYP2C9 star (*) allele haplotypes currently cataloged by the Pharmacogene Variation (PharmVar) Consortium are defined by sequence variants. To determine if structural variation also occurs at the CYP2C locus, the 10q23.33 region was interrogated across deidentified clinical chromosomal microarray (CMA) data from 20,642 patients tested at two academic medical centers. Fourteen copy number variants that affected the coding region of CYP2C genes were detected in the clinical CMA cohorts, which ranged in size from 39.2 to 1,043.3 kb. Selected deletions and duplications were confirmed by MLPA or ddPCR. Analysis of the clinical CMA and an additional 78,839 cases from the Database of Genomic Variants (DGV) and ClinGen (total n = 99,481) indicated that the carrier frequency of a CYP2C structural variant is ~1 in 1,000, with ~1 in 2,000 being a CYP2C19 full gene or partial-gene deletion carrier, designated by PharmVar as CYP2C19*36 and *37, respectively. Although these structural variants are rare in the general population, their detection will likely improve metabolizer phenotype prediction when interrogated for research and/or clinical testing.
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Registered trials
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