Mouse Dihydropyrimidine Dehydrogenase,DPYD ELISA Kit
- Known as:
- Mouse Dihydropyrimidine Dehydrogenase,DPYD Enzyme-linked immunosorbent assay test Kit
- Catalog number:
- E0951Mo
- Product Quantity:
- 48T
- Category:
- Elisa Kits
- Supplier:
- Sunlog
- Gene target:
- Mouse Dihydropyrimidine Dehydrogenase DPYD ELISA Kit
Related genes to: Mouse Dihydropyrimidine Dehydrogenase,DPYD ELISA Kit
- Gene:
- DPYD NIH gene
- Name:
- dihydropyrimidine dehydrogenase
- Previous symbol:
- -
- Synonyms:
- DPD
- Chromosome:
- 1p21.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-07-07
- Date modifiied:
- 2019-04-23
Related products to: Mouse Dihydropyrimidine Dehydrogenase,DPYD ELISA Kit
Related articles to: Mouse Dihydropyrimidine Dehydrogenase,DPYD ELISA Kit
- Pharmacogenomics has the potential to improve the safety and efficacy of medicines in Saudi Arabia, and has a strong basis for implementation through population-specific genomic evidence, growing laboratory capacity and national digital health investment. We undertook a structured policy analysis and evidence synthesis of Saudi, regional, and international evidence; compared selected implementation capabilities across established models; and assessed national readiness descriptively across key health system domains. Using published evidence and structured expert judgement, we propose gene-drug priority tiers according to their clinical impact, population relevance and feasibility. Saudi Arabia's strengths are in genomic evidence and digital health infrastructure, but large gaps exist in governance, laboratory standardization, electronic health record interoperability, clinical decision support, workforce readiness, reimbursement, and outcome evaluation. Five pathways are proposed for initial implementation: -clopidogrel, -fluoropyrimidines, /-thiopurines, HLA-guided anticonvulsant prescribing and -abacavir. We propose a framework that could be supported by the Population Health Observatory and a six-phase roadmap, moving from governance and technical design to multicenter pilots, national scale-up and continuous evaluation. - Source: PubMed
Publication date: 2026/09/14
Alrubaie Kholud RAlzaylaee Raghad AAlayyaf Latifah AAlgahtani Farjah HAlomary Shaker AAssiri Abdullah MAlEissa Mariam M - : Pharmacogenetic testing of the dihydropyrimidine dehydrogenase gene () is increasingly incorporated into clinical practice to identify patients at increased risk of fluoropyrimidine-related toxicity. However, most routine assays target a limited number of well-established variants, whereas the gene demonstrates substantial population variability and may harbor rare potentially functional alleles that are not detected by conventional targeted testing. Data describing coding and splice-region variants detectable by whole-exome sequencing in Russian oncology populations remain limited. This study aimed to characterize the frequency and distribution of common, clinically relevant, and rare variants in a Russian cohort of patients receiving fluoropyrimidine-containing chemotherapy and to compare the observed allele frequencies with European and East Asian reference populations. : Descriptive pharmacogenetic analysis was performed in 339 patients with malignant tumors treated with fluorouracil, leucovorin, oxaliplatin, and docetaxel (FLOT), folinic acid, fluorouracil, and oxaliplatin (FOLFOX), or folinic acid, fluorouracil, irinotecan, and oxaliplatin (FOLFIRINOX) regimens. Whole-exome sequencing was performed using Illumina technology with exome enrichment by KAPA HyperExome and a sequencing depth of at least 100×. Sequence reads were aligned to the Genome Reference Consortium Human Build 38 (GRCh38) reference genome, germline variants were called using Genome Analysis Toolkit (GATK), HaplotypeCaller, and functional annotation was performed with Ensembl Variant Effect Predictor. variants were classified according to their population frequency, predicted functional effect, ClinVar annotations, and current pharmacogenetic recommendations. Allele and genotype frequencies were calculated and descriptively compared with Genome Aggregation Database (gnomAD) v4.1.1 Non-Finnish European and East Asian populations. : Seventeen variants were identified. The most frequent alternative alleles were rs1801265 (24.93%), rs1801159 (17.70%), rs2297595 (11.06%), rs1801160 (7.08%), and rs17376848 (5.16%). Their distribution was generally closer to that observed in the Non-Finnish European population than in East Asian populations. The established reduced-function variant rs67376798 (c.2846A>T, p.Asp949Val) was detected in one heterozygous patient, corresponding to a carrier frequency of 0.29% and an allele frequency of 0.15%. The HapB3 proxy variant rs56038477 (c.1236G>A) was identified in 13 heterozygous patients, with a carrier frequency of 3.83% and an allele frequency of 1.92%; confirmation of the functional intronic variant rs75017182 would be required for definitive HapB3 assignment. Overall, rs67376798 or rs56038477 was detected in 14 patients (4.13%). In addition, rare variants with a cohort allele frequency below 1% were identified in 11 patients (3.24%). Among these, p.Thr65Ala, p.Thr65Met, p.Asn151Asp, and p.Val691Leu represented potentially relevant findings requiring further functional validation. : Whole-exome analysis revealed a heterogeneous spectrum of variants in the studied Russian oncology cohort, including both established pharmacogenetic markers and rare variants that would not be captured by limited targeted panels. The overall allele-frequency pattern was predominantly similar to that of European reference populations, although several rare variants demonstrated distinct distributions. These findings support the value of population-specific characterization of and suggest that expanded sequencing approaches may complement conventional pharmacogenetic testing by identifying rare potentially functional alleles. - Source: PubMed
Publication date: 2026/09/09
Fedorinov DenisLyadov VladimirLyadova MarinaAbdullaev SherzodSychev IvanFilatova AnnaDanilov LavrentiiGlotov OlegBudagova IuliiaMirzaev KarinSychev Dmitry - Fluoropyrimidines are among the most widely used chemotherapeutic agents for gastrointestinal malignancies, but interindividual variability in dihydropyrimidine dehydrogenase (DPD) activity, encoded by DPYD, can lead to severe or lethal toxicities. Most pharmacogenetic data on DPYD originates from European populations, limiting the applicability of current guidelines in admixed groups. - Source: PubMed
Publication date: 2026/09/17
Gonzalez-Covarrubias VanessaMorales-Alfaro AndreaBonilla-Jimenez OscarRodríguez-Dorantes MauricioFrías-Jimenez EmmanuelSoto-Perez-de-Celis Enrique - Current DPYD genotyping panels used to prevent fluoropyrimidine (FL)-related toxicity explain only a limited proportion of severe adverse events. The clinical relevance, beyond current testing, of additional DPYD variants, including DPYD*6 (c.2194 G>A, rs1801160), DPYD c.496 A>G (rs2297595), and DPYD*9 A (c.85 T > C, rs1801265) remains debated. This study evaluated each polymorphism individually, irrespective of the allelic configuration at the other investigated loci, and as part of three-locus haplotypes in relation to severe FL-related toxicity. For single-variant effects, data from patients enrolled in two trials (PREPARE, Italian cohort; Alpe-DPD) were combined with 31 eligible published studies in a meta-analysis comprising 33 studies and 17,485 patients, with subgroup analyses by ethnicity. Haplotype analyses were performed in the 1296 trial participants. LC-MS was applied to evaluate plasma uracil and dihydrouracil levels. In the meta-analysis, DPYD c.2194 G>A (OR=1.70; 95%CI: 1.48-1.95) and c.496 A>G (OR=1.55; 95%CI: 1.19-2.02) were associated with FL toxicity. No overall association was observed for c.85 T > C; however, it improved c.496 A>G associated risk prediction in a haplotype analysis. Haplotype #3 (minor c.496 G with major c.85 T) was consistently associated with increased severe overall toxicity (PREPARE: OR=2.62, 95%CI: 1.06-6.50; Alpe-DPD: OR=2.09, 95%CI: 1.01-4.37) and gastrointestinal toxicity (PREPARE: OR=5.65, 95%CI: 2.11-15.15; Alpe-DPD: OR=2.71, 95%CI: 1.23-5.97). An exploratory Receiver Operating Characteristic (ROC) curve analysis demonstrated a significant incremental gain in risk discrimination achieved by adding DPYD c.85 T > C to a model that already included c.496 A>G. Haplotype #4 (minor alleles at both loci) was not associated with toxicity, suggesting a functional interaction between the variants. DPYD c.2194 G>A did not add to haplotype-based stratification. In PREPARE, pre-treatment plasma uracil and dihydrouracil confirmed reduced DPD function in haplotype #3 carriers. Overall, DPYD c.2194 G>A and c.496 A>G increased severe FL-toxicity risk when evaluated individually, whereas the integration of c.85 T > C refined risk prediction in a haplotype-based approach, supporting further refinement of pharmacogenetic risk stratification. - Source: PubMed
Publication date: 2026/09/11
De Mattia ElenaPolesel Jerryvan der Lee MaaikeBohringer StefanGambron MartinaPerfler SamanthaRoncato RossanaCanil GiovanniPosocco BiancaCats AnnemiekeMathijssen Ron H JGuchelaar Henk-JanSchellens Jan H MGelderblom HansSpina MichelePuglisi FabioSwen Jesse JCecchin Erika - Pre-emptive genotyping and genotype-guided dose adjustments are generally recommended for seven hypofunctional polymorphisms in the DPYD gene that are associated with fluoropyrimidine toxicity. However, targeted genotyping may miss uncommon and population-specific hypofunctional variants. Therefore, in 2021, we replaced conventional targeted genotyping with comprehensive DPYD exome sequencing. The objective of the current study was to identify uncommon hypofunctional variants and assess their association with fluoropyrimidine toxicity. In a cohort of 762 consecutive patients pre-emptively genotyped between 2021 and 2025, among the seven established risk variants, we identified *2A and HapB3 at their expected minor allele frequencies (MAF), but no carriers of any of the five other established risk variants. Interestingly, four patients were heterozygous for the rare missense c.257C>T variant (Pro86Leu; rs568132506), previously associated with fluoropyrimidine toxicity. The MAF (2.62 × 10-3) was similar to that previously described in Middle Eastern populations but 26-fold higher than in the gnomAD global population. Three of the carriers (75%) developed grade 3-4 fluoropyrimidine toxicity after one or two cycles, corresponding to a relative risk of 14.5 (95% confidence interval: 5.0-30.4, P = 0.0009) compared with a control cohort without hypofunctional DPYD variants. Our findings add to the growing body of evidence indicating that DPYD c.257C>T may be associated with severe fluoropyrimidine toxicity. Future studies should examine the clinical utility of including uncommon but potentially actionable variants, such as c.257C>T, into pre-emptive genotyping algorithms. This may be particularly important in multiethnic populations in which these variants can be more prevalent than those variants for which pre-emptive genotyping is generally recommended. - Source: PubMed
Publication date: 2026/08/04
Carp Marie-JeanneRing GilWaldhorn IthaiShempliner AlexandraSchantzer TaliaMor NoaRyvo LarisaKurnik DanielEfrati Edna