Ask about this productRelated genes to: CYP2D6 antibody
- Gene:
- CYP2D6 NIH gene
- Name:
- cytochrome P450 family 2 subfamily D member 6
- Previous symbol:
- CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP
- Synonyms:
- CPD6, P450-DB1, CYP2D, P450C2D
- Chromosome:
- 22q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1992-04-07
- Date modifiied:
- 2019-04-23
Related products to: CYP2D6 antibody
Related articles to: CYP2D6 antibody
- The CYP2D6 gene, a key enzyme in drug metabolism, exhibits high polymorphism. Variants rs1065852 (CYP2D6*10) and rs1135840 (CYP2D6*41) are associated with reduced enzyme activity, making their precise detection crucial for optimizing pharmacotherapy. This study aimed to develop and validate plasmid-derived reference materials for detecting these Single-Nucleotide Polymorphisms (SNPs) via real-time PCR genotyping. - Source: PubMed
Publication date: 2026/05/08
Malau JekmalKasasiah AhsanalZahra Aliya AzkiaMeilani Nanda DivaRohmah SitiSepti Annisa FrasticaZahro Aurora FatimatuzAnnajla FathinaHilmi Indah LailyHermosaningtyas Anastasia AliesaSetiawan HeriRaekiansyah MuharevaRahmasari Ratika - Migraine is a highly prevalent and disabling neurological disorder characterized by marked clinical heterogeneity, particularly between migraine with aura (MA) and migraine without aura (MO). Although genome-wide association studies (GWASs) have identified numerous risk loci, the cell-type-specific regulatory mechanisms linking genetic variation to brain structure and migraine susceptibility remain unclear. We integrated brain cell-type-specific cis-expression quantitative trait loci (eQTL) from single-nucleus RNA sequencing with large-scale GWAS summary statistics for overall migraine, MA, and MO using a Mendelian randomization (MR) framework. Causal effects of gene expression on migraine outcomes were assessed, followed by analyses linking prioritized genes to brain imaging-derived phenotypes and evaluating mediation by brain structural traits. Colocalization, spatiotemporal expression, and drug-gene interaction analyses were used to support causal inference and translational relevance. We identified 24 brain cell-type-specific genes with significant cis-eQTLs (eGenes) showing evidence of causal associations with overall migraine, largely confined to a single cell type. Subtype-stratified analyses further revealed four eGenes specific to MA and six eGenes specific to MO. MO-associated eGenes showed broader cellular involvement and enrichment at the 17q21.31 inversion locus. These eGenes exerted widespread effects on gray matter macrostructure and white matter microstructure. Two-step MR identified one significant potential mediation pathway for overall migraine and 15 for MO. Spatiotemporal analyses revealed cell-type-specific developmental expression profiles of significant eGenes, and drug-gene interaction analyses prioritized six potentially druggable genes, including CYP2D6 and HLAC. This study delineates a cell-type-resolved causal framework linking gene regulation, brain structure, and migraine susceptibility, revealing subtype-specific mechanisms and highlighting translationally relevant targets. - Source: PubMed
Publication date: 2026/05/12
Dong HaoyangLiu MenggeWu QianDeng LinlinLiu YingWang HaolinXu BochenRen HaoranZheng ZhuoruWang WenqinLiu FengWang KaiyuanMa Juanwei - Bipolar-spectrum illness emerging after traumatic brain injury (TBI) can be difficult to treat and may present with mixed or agitated depressive features that appear sensitive to glutamatergic modulation. In post-TBI cases, diagnostic certainty is often limited because irritability, impulsivity, sleep disturbance, affective lability, and cognitive change may overlap with frontal-limbic injury syndromes. This case is, therefore, framed as probable bipolar-spectrum disorder secondary to TBI rather than definitive idiopathic bipolar disorder. The Cheung Glutamatergic Regimen (CGR)--low-dose dextromethorphan with CYP2D6 inhibition plus piracetam--is used here only as a shorthand for an open-source, free-to-use, non-proprietary combination of off-patent components, not as a branded product. This report describes a woman in her mid-thirties with right frontal atrophy after a 2009 subdural hematoma who later developed probable bipolar-spectrum illness. On 21 October 2025, she presented with severe depressive relapse, insomnia, persistent rumination, irritability, and hypnagogic phenomena, with a Patient Health Questionnaire-9 (PHQ-9) score of 22. After partial improvement on valproate, risperidone, and Deanxit, dextromethorphan 30 mg nightly and piracetam 600 mg nightly were added on 5 November 2025. Within weeks, rumination decreased and mental flexibility improved, but transient mild hypomanic or frontal-disinhibition-like symptoms emerged, especially inappropriate laughter with a moria-like quality. She self-reduced dextromethorphan to 22.5 mg, piracetam was increased, and euthymia returned. Over the next six months, PHQ-9 scores improved to 10-12 and Generalized Anxiety Disorder-7 (GAD-7) scores to 8-13, with functional gains including exercise and motorcycle riding lessons. Later medications included aripiprazole, paroxetine-controlled release, pregabalin, and low-dose quetiapine. By April 2026, dextromethorphan and piracetam were used as needed during stress-related or premenstrual dips. No further psychotic symptoms were reported, and later mild dissociative or cognitive complaints became manageable after dose adjustment. This single-patient course suggests a three-phase pattern: induction with a narrow therapeutic window and brief activation/overshoot, stabilization after titration, and later PRN maintenance. Dextromethorphan appeared temporally most linked to both clinical benefit and transient activation, while piracetam may have acted as a modulator. However, causal inference is limited by the uncontrolled design, early PHQ-9 improvement before CGR initiation, later polypharmacy, unmeasured pharmacokinetics, absence of standardized mania/cognitive measures, and incomplete PRN-frequency documentation. The case is also only hypothesis-generating in relation to transcriptomic findings implicating bipolar-specific plasticity-related biology. Low-dose oral glutamatergic augmentation may warrant study as a closely monitored induction and consolidation strategy in post-TBI bipolar-spectrum illness, but prospective controlled trials are needed before broader recommendations can be made. - Source: PubMed
Publication date: 2026/05/10
Cheung Ngo - Sertraline is commonly used to treat mental health conditions in youth. However, its tolerability and efficacy vary between individuals, partly due to interindividual differences in drug metabolism. This study assessed the individual and combined impact of genetic variation in cytochrome P450 drug-metabolizing enzymes on patient-reported side effects and symptom improvement in 347 youth, aged 6-24, receiving sertraline treatment. Participants reported sertraline dose, duration, adherence, concomitant medications, side effects, and symptom improvement. DNA was extracted from saliva samples and genotyped for CYP2B6, CYP2C9, CYP2C19, CYP2D6, and CYP3A4. Individual activity scores and a weighted combinatorial CYP450 activity score were created. Binomial logistic regression models were used to assess the impact individual and combined CYP450 activity scores had on patient-reported side effects and symptom improvement, both with and without correction for phenoconversion. After adjusting for phenoconversion, other CYP450 activity scores, and covariates, higher activity scores for CYP2D6 (OR = 0.288, 95% CI = 0.091-0.913) and CYP3A4 (OR = 0.002, 95% CI = 0.001-0.375) were nominally associated with reduced odds of symptom improvement. A higher combined CYP450 activity score was associated with reduced odds of symptom improvement (OR = 0.060, 95% CI = 0.004-0.797) and side effects (OR = 0.097, 95% CI = 0.010-0.925). These findings suggest that a combined CYP450 activity score may serve as a marker of symptom improvement and side effects in youth, but validation using sertraline/desmethylsertraline concentrations is required. If validated, these results may inform updates to pharmacogenetic prescribing guidelines for sertraline and support more personalized sertraline use in youth. - Source: PubMed
Gerlach SamuelMaruf Abdullah AlShaheen Sarker MMcCloud RydenHeintz MadisonMcAusland LainaArnold Paul DBousman Chad A - Despite being the mainstay of treatment for major depressive disorder (MDD), antidepressants have highly variable efficacy, with fewer than a third of patients achieving remission after a first-line trial. This has fuelled a decades-long search for genetic and epigenetic biomarkers to guide personalised treatment. This narrative review critically synthesises the evidence, tracing the evolution from hypothesis-driven candidate-gene studies to large-scale, unbiased genomic and epigenomic approaches. We find that the initial promise of single candidate genes, such as SLC6A4, has largely dissolved under the scrutiny of larger, more rigorous studies, with most early findings failing to replicate. Consequently, attention has shifted to genome-wide association studies, which indicate that antidepressant response is a highly polygenic trait influenced by thousands of genetic variants, each contributing a very small effect. The primary clinical success has been in pharmacokinetics, where variants in CYP2D6 and CYP2C19, and more recently CYP2B6, are used to guide dosing and mitigate adverse effects, while evidence for predicting efficacy remains limited and appears to be medication-specific. Emerging epigenetic and transcriptomic markers offer dynamic insights, with DNA methylation and especially histone post-translational modifications helping to elucidate antidepressant mechanisms, while baseline inflammatory transcriptomic signatures are among the more reproducible correlates of non-response. However, their clinical translation is currently stalled by fundamental challenges, including tissue specificity and a lack of validated, replicable signatures. While panel-based pharmacogenetic testing provides modest clinical benefits, accurate prediction of therapeutic success remains an unmet goal. Future progress will require substantially larger, ancestrally diverse, medication-aware cohorts integrated with multi-omic analyses and anchored to disease-relevant tissue context through cell-type-resolved human brain studies, post-mortem validation, and patient-derived induced pluripotent stem cell models. - Source: PubMed
Publication date: 2026/05/13
Lyndon Stanley