Pregled bibliografske jedinice broj: 1139356
CYP2D6 revisited in GENDEP: inter-platform concordance
CYP2D6 revisited in GENDEP: inter-platform concordance // Biological Psychiatry, Vol. 87, No. S9 - Suppl. (2020)
New York (NY): Elsevier, 2020. str. S148-S148 doi:10.1016/j.biopsych.2020.02.393 (poster, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 1139356 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
CYP2D6 revisited in GENDEP: inter-platform concordance
Autori
Aitchison, Katherine ; Henriques, Beatriz Carvalho ; Yavorskyy, Vasyl ; Wang, Yabing ; Martens, Kristina ; Asl, Bahareh Behroozi ; Carr, Michael ; Hague, Joshua ; Hu, Xiuying ; Maier, Wolfgang ; Dernovšek, Mojca Z ; Henigsberg, Neven ; Souery, Daniel ; Cattaneo, Annamaria ; Mors, Ole ; Rietschel, Marcella ; Lewis, Cathryn ; Pfeffer, Gerald ; Bousman, Chad
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Biological Psychiatry, Vol. 87, No. S9 - Suppl. (2020)
/ - New York (NY) : Elsevier, 2020, S148-S148
Skup
Society of Biological Psychiatry's 75th Anniversary Meeting
Mjesto i datum
Online, 05.09.2020. - 05.09.2020
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
antidepressant ; CYP2D6 ; CYP2C19 ; pharmacogenomics
Sažetak
Background: Despite guidelines indicating potential clinical utility of genotyping for CYP2D6, this is not yet routinely provided. A contributing factor to this is the complexity of the locus including “structural variants” (complete or partial gene deletions and duplications). Methods: Samples with a variety of CYP2D6 genotypes according to prior data were selected from the Genome-based therapeutic drugs for depression (GENDEP) study (Huezo-Diaz et al., 2012) and subjected to TaqMan copy number variant (CNV) analysis using probes specific for different CYP2D6 regions, to the Ion S5 AmpliSeq Pharmacogenomics Panel and to PharmacoScan Solution. Translator files were written to facilitate data interpretation. Results: For samples of a CNV call of two across TaqMan or PharmacoScan CNV probes, the concordance between IonS5 and PharmacoScan was 94% (32/34), with the two nonconcordant samples having variants detected by Pharmaco- Scan that are not currently in the IonS5 panel (CYP2D6*22 and CYP2D6*25). For samples with a CNV call of one across the probes, there was 100% concordance between the two platforms. For samples with a CNV call of 3 across TaqMan or PharmacoScan CNV probes, the concordance was 94% (16/17). Concordance was less for samples with unequal call across the probes, consistent with hybrid alleles. Conclusions: The Ion S5 AmpliSeq data show a high rate of concordance with PharmacoScan solution for all types of CYP2D6 variants apart from the hybrid variants (found at 2%, 18/859 in GENDEP).
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE