Pharmacogenomics最新文献_第2页

CYP2C:TG haplotype in Ecuador and Nicaragua: insights into CYP2C19 genotype-phenotype correlation in context to Mestizo populations. 厄瓜多尔和尼加拉瓜CYP2C:TG单倍型：Mestizo人群CYP2C19基因型-表型相关性研究

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-01 Epub Date: 2026-04-08 DOI: 10.1080/14622416.2026.2646516

Carla González de la Cruz, Catalina Altamirano-Tinoco, Juan Antonio Villatoro-García, Carmen Mata-Martín, Eva M Peñas-Lledó, Ronald Ramírez-Roa, Enrique Terán, Adrián Llerena

{"title":"CYP2C:TG haplotype in Ecuador and Nicaragua: insights into CYP2C19 genotype-phenotype correlation in context to Mestizo populations.","authors":"Carla González de la Cruz, Catalina Altamirano-Tinoco, Juan Antonio Villatoro-García, Carmen Mata-Martín, Eva M Peñas-Lledó, Ronald Ramírez-Roa, Enrique Terán, Adrián Llerena","doi":"10.1080/14622416.2026.2646516","DOIUrl":"10.1080/14622416.2026.2646516","url":null,"abstract":"Aim: The impact of the CYP2C:TG haplotype on CYP2C19-mediated omeprazole metabolism was evaluated.Patients and methods: CYP2C19 enzymatic activity was assessed in 234 volunteers from Nicaragua and Ecuador using the omeprazole/5-hydroxyomeprazole metabolic ratio within a validated CEIBA cocktail protocol. Genotyping included CYP2C19 alleles (*2, *3, *4, *5, *17) and CYP2C:TG defining CYP2C18 variants (rs2860840, rs11188059). Associations among the CYP2C:TG haplotype, CYP2C19 genotype, and metabolic ratio were analyzed using univariate and multivariate models.Results: The CYP2C:TG haplotype was the second most frequent (33.76%) and occurred exclusively with the CYP2C19 *1 allele. No significant association was observed between CYP2C:TG haplotype and the metabolic ratio (p = 0.12). Across predicted metabolizer groups, a trend toward increased CYP2C19 metabolism was observed, although this difference did not reach statistical significance.Conclusion: In these admixed Latin American populations, the CYP2C:TG haplotype was not significantly associated with CYP2C19-mediated omeprazole metabolism. This finding does not support clinical implementation of CYP2C:TG haplotype testing for predicting CYP2C19 activity and underscores the need for further research on this haplotype and its potential role in CYP2C19 metabolism across diverse populations in the context of pharmacogenetics.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"35-41"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147634087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The 8th European Society of Pharmacogenomics and Personalized Therapy (ESPT) congress. 第八届欧洲药物基因组学和个性化治疗学会（ESPT）大会。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-01 Epub Date: 2026-04-02 DOI: 10.1080/14622416.2026.2648608

Ron H N van Schaik, Jesse J Swen, Adrián Llerena, Birgit C P Koch, Marieke J H Coenen, Espen Molden, Ron H J Mathijssen, Erika Cecchin, Mia Wadelius, Teun van Gelder, Nicolas Picard, Ann K Daly, Sanja Stanković, Daan van den Broek, Cristina Rodriguez-Antona, Maja Matic, Ingolf Cascorbi, Maaike van der Lee, Vita Dolzan, Tiffany Morris, Mikko Niemi

{"title":"The 8th European Society of Pharmacogenomics and Personalized Therapy (ESPT) congress.","authors":"Ron H N van Schaik, Jesse J Swen, Adrián Llerena, Birgit C P Koch, Marieke J H Coenen, Espen Molden, Ron H J Mathijssen, Erika Cecchin, Mia Wadelius, Teun van Gelder, Nicolas Picard, Ann K Daly, Sanja Stanković, Daan van den Broek, Cristina Rodriguez-Antona, Maja Matic, Ingolf Cascorbi, Maaike van der Lee, Vita Dolzan, Tiffany Morris, Mikko Niemi","doi":"10.1080/14622416.2026.2648608","DOIUrl":"10.1080/14622416.2026.2648608","url":null,"abstract":"On November 5-8, 2025, the European Society of Pharmacogenomics and Personalized Therapy (ESPT) organized its 8th biennial congress, this time in Rotterdam, The Netherlands (www.esptcongress.org). The congress aimed to address the current status and future perspectives of pharmacogenomics, share the latest knowledge in this field of precision medicine and showcase the implementation of clinical applications in pharmacogenomics/pharmacogenetics. The 4-day congress consisted of in total 60 lectures given by key-opinion leaders, divided in 11 sessions, and included four national mini-symposia, two poster sessions of in total 160 posters and a discussion forum. The successful event enabled the exchange of information between 514 participants from 42 different countries and 20 industry partners on the current use, future aspects, and challenges of pharmacogenetics and its clinical implementation.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"5-8"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring the potential of pharmacogenetic testing in Alabama Veterans diagnosed with major depressive disorder. 探索药物遗传学测试在诊断为重度抑郁症的阿拉巴马退伍军人中的潜力。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-01 Epub Date: 2026-03-09 DOI: 10.1080/14622416.2026.2640830

Courtney Watts Alexander, Tyler Long, Courtney Gamston, Garrett Aikens, Lucia Tocco, Kimberly Braxton Lloyd

{"title":"Exploring the potential of pharmacogenetic testing in Alabama Veterans diagnosed with major depressive disorder.","authors":"Courtney Watts Alexander, Tyler Long, Courtney Gamston, Garrett Aikens, Lucia Tocco, Kimberly Braxton Lloyd","doi":"10.1080/14622416.2026.2640830","DOIUrl":"10.1080/14622416.2026.2640830","url":null,"abstract":"Aims: Major depressive disorder (MDD) is highly prevalent among Veterans, who often experience inadequate response to first-line antidepressants. Pharmacogenetic testing may improve treatment selection by identifying genetic variants that affect drug metabolism. This study evaluated the prevalence of pharmacogenetically actionable variants and drug-gene interactions (DGIs) in Veterans with MDD.Participants and methods: This retrospective chart review included Veterans aged 19-89 years diagnosed with MDD who were prescribed, previously prescribed, or under clinical consideration for future treatment with at least one mental health medication for which actionable pharmacogenetic guidance exists. Medication histories were assessed for DGIs. The primary outcome was the number of medications with at least one actionable DGI.Results: Among 32 participants (75% male; 59% Black/African American), 88 current or historical pharmacogenetically actionable mental health medications were identified (median 2 per participant; range 0-9). Thirty-eight (43.2%) medications had ≥1 DGI. Eighteen participants (56.3%) carried ≥1 actionable DGI, with a median of 1 (range: 0-8).Conclusions: Clinically actionable pharmacogenetic variation was highly prevalent in this Veteran cohort. These findings support the integration of preemptive pharmacogenetic testing into psychiatric care; however, further research is needed to evaluate its impact on treatment response, remission rates, and clinical decision-making.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"19-25"},"PeriodicalIF":1.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13078194/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147378297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ABCG2 and allopurinol response: when pharmacogenetics collides with fixed-dose practice. ABCG2和别嘌呤醇反应：当药物遗传学与固定剂量实践相冲突时。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2026-01-01 Epub Date: 2026-03-18 DOI: 10.1080/14622416.2026.2646514

Youssef Roman

引用次数: 0

Correction. 修正。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-12-10 DOI: 10.1080/14622416.2025.2601450

引用次数: 0

Association between ABCG2 polymorphisms and allopurinol response in gout patients: a systematic review and meta-analysis. ABCG2多态性与痛风患者别嘌呤醇反应之间的关系：一项系统综述和荟萃分析

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2025-12-30 DOI: 10.1080/14622416.2025.2609364

Jia Wen Lee, Muhammad Danish Badrul Hisham, Xin Yee Low, L K Teh

{"title":"Association between ABCG2 polymorphisms and allopurinol response in gout patients: a systematic review and meta-analysis.","authors":"Jia Wen Lee, Muhammad Danish Badrul Hisham, Xin Yee Low, L K Teh","doi":"10.1080/14622416.2025.2609364","DOIUrl":"10.1080/14622416.2025.2609364","url":null,"abstract":"Aim: This systematic review and meta-analysis aimed to investigate the association between ABCG2 polymorphisms and allopurinol response in gout patients.Methods: A comprehensive search of Scopus, PubMed, Web of Science, EBSCOhost, and the Clinical Pharmacogenomic Resource was conducted for observational studies up to May 2025. Two authors independently screened studies, extracted data, and assessed study quality using the Newcastle-Ottawa Scale. Pooled odds ratios with 95% confidence intervals were calculated using a random-effects model across codominant, dominant, and recessive genetic models. Statistical heterogeneity was evaluated using the I2 statistic, and sensitivity analyses were performed.Results: Six studies met the inclusion criteria for the review, and five were included in the meta-analysis. A significant association was observed between rs2231142 with poor allopurinol response, but not rs10011796. Sensitivity analyses confirmed the robustness of the findings for rs2231142.Conclusion: The findings suggest that ABCG2 rs2231142 influences allopurinol response. These results underscore the potential of rs2231142 as a predictive genetic marker for allopurinol efficacy and may inform the development of pharmacogenomic guidelines for gout management.This systematic review and meta-analysis was not registered in any protocol registry.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"773-786"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145864515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Provider perceptions on the clinical utility of pharmacogenomics testing: views of psychiatry physicians from an academic center. 提供者对药物基因组学测试的临床应用的看法：来自学术中心的精神病学医生的观点。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-02-01 DOI: 10.1080/14622416.2026.2624534

Andrew Sulaiman, Cyrus Gilbert, James M Stevenson, Karen Swartz, Mark A Marzinke

{"title":"Provider perceptions on the clinical utility of pharmacogenomics testing: views of psychiatry physicians from an academic center.","authors":"Andrew Sulaiman, Cyrus Gilbert, James M Stevenson, Karen Swartz, Mark A Marzinke","doi":"10.1080/14622416.2026.2624534","DOIUrl":"10.1080/14622416.2026.2624534","url":null,"abstract":"Provider attitudes on the clinical applicability of pharmacogenomics (PGx) are variable. We investigated psychiatry provider perspectives on PGx testing to gauge familiarity, implementation barriers/facilitators, and educational gaps within the Johns Hopkins Health System (JHHS). A 63-question survey was disseminated to psychiatry attending physicians and trainees practicing at JHHS. The survey queried familiarity with PGx testing, its clinical utility, barriers, benefits, the future landscape of PGx, and improvements in PGx implementation. Responses were categorized using a Likert scale and analyzed with Mann-Whitney non-parametric statistical testing. Within our health system, a minority of respondents were aware of PGx resources and there was mixed comfortability in the utilization and interpretation of PGx results. There were mixed opinions regarding the current clinical benefits of PGx testing but there was a desire for further education/training and strong agreement regarding the increased role of PGx in the future of psychiatric practice. Areas where PGx could be improved for greater clinical integration were also identified. While current PGx perspectives are mixed, there is agreement that PGx will play a greater role in psychiatry, highlighting the importance of PGx education and testing integration within a framework which promotes multi-disciplinary consultation to overcome implementation and interpretation challenges.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"673-681"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dihydropyrimidine dehydrogenase testing: capturing what standard genotyping misses with next-generation sequencing. 二氢嘧啶脱氢酶测试：捕捉什么标准基因分型错过了下一代测序。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-01-16 DOI: 10.1080/14622416.2026.2613869

Maxime Sourdioux, Mohamed Ksentini, Dorian Chastagner, Camille Tron, Nicolas Picard

{"title":"Dihydropyrimidine dehydrogenase testing: capturing what standard genotyping misses with next-generation sequencing.","authors":"Maxime Sourdioux, Mohamed Ksentini, Dorian Chastagner, Camille Tron, Nicolas Picard","doi":"10.1080/14622416.2026.2613869","DOIUrl":"10.1080/14622416.2026.2613869","url":null,"abstract":"Background: Screening for dihydropyrimidine dehydrogenase (DPD) deficiency has been recommended by both the European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA) to prevent fluoropyrimidine toxicity. Depending on national guidelines, it relies on phenotyping or variants genotyping. We assessed the benefit of DPYD sequencing to identify unreported variants that may alter enzyme function.Methods: We retrospectively analyzed DPYD next-generation sequencing results obtained from 1145 individuals at Limoges University Hospital between November 2020 and July 2025.Results: Fifty-one DPYD variants were identified including several rare variants and copy-number variation (CNV) that are not addressed in current guidelines. Four were common (MAF ≥ 5%), 6 rare (MAF ≥ 0.5% and < 5%) and 41 very rare (MAF < 0.5%). Eight showed a Clinical Pharmacogenetics Implementation Consortium (CPIC) score indicative of decreased or null activity; 12 were classified normal-function allele, and 31 had no CPIC annotation. In this cohort, 73 (6.3%) individuals carried at least one decreased-function allele, while 28 (2.4%) had potentially damaging rare or structural variants (including 5 CNVs).Conclusion: NGS analysis enables the identification of DPYD rare or structural variants with potential functional impact, thereby improving the genetic assessment of DPD deficiency.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"741-746"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145990414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pharmacogenomic testing for Prader-Willi syndrome: a mixed methods analysis of caregiver experiences and utilization. 普瑞德-威利综合征的药物基因组学测试：护理者经验和利用的混合方法分析。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-01-16 DOI: 10.1080/14622416.2026.2614280

Anna Carpenter Harris, Jessica J Denton, Yael Bar-Peled, Caroline J Vrana-Diaz, Theresa V Strong

{"title":"Pharmacogenomic testing for Prader-Willi syndrome: a mixed methods analysis of caregiver experiences and utilization.","authors":"Anna Carpenter Harris, Jessica J Denton, Yael Bar-Peled, Caroline J Vrana-Diaz, Theresa V Strong","doi":"10.1080/14622416.2026.2614280","DOIUrl":"10.1080/14622416.2026.2614280","url":null,"abstract":"Aim: This study aims to better understand the utility of pharmacogenomic (PGx) testing for the rare disease, Prader-Willi syndrome (PWS).Methods: Individuals with PWS received PGx testing, and their caregivers were surveyed 1 month after receiving results (n = 42) and 6-months after receiving results (n = 38). A subset of respondents (n = 9) also participated in qualitative interviews.Results: After receiving the PGx results, only one caregiver participant (2.27%) reported making medication changes. Eighty percent of caregiver participants stated the most valuable aspect of the PGx results was the information it provided about future medications their child may need. Interview participants discussed how the report gave them reassurance or verification of their current medication regimen. Only 36.59% of caregiver participants shared PGx results with their child's healthcare providers during the six-month follow-up period. Interview participants described reasons for not sharing the PGx report, including that nothing in the report prompted them to do so, or that they believed providers would not use it.Conclusion: PGx results are perceived as valuable to the PWS population, but sharing PGx results with healthcare providers was limited at the six-month time point.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"683-693"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145990398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

UGT1A6 variants and deferiprone-induced ADRs: a complication-specific analysis in Iranian thalassemia patients. UGT1A6变异和去铁酚酮诱导的不良反应：伊朗地中海贫血患者的并发症特异性分析

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-12-01 Epub Date: 2026-02-01 DOI: 10.1080/14622416.2025.2608573

Malihe Najaflu, Ellis J Neufeld, Marjan Mansourian, Majid Ghanavat, Mansoor Salehi

{"title":"UGT1A6 variants and deferiprone-induced ADRs: a complication-specific analysis in Iranian thalassemia patients.","authors":"Malihe Najaflu, Ellis J Neufeld, Marjan Mansourian, Majid Ghanavat, Mansoor Salehi","doi":"10.1080/14622416.2025.2608573","DOIUrl":"10.1080/14622416.2025.2608573","url":null,"abstract":"Aims: Deferiprone, an iron chelator, causes variable adverse drug reactions (ADRs) in β-thalassemia patients, suggesting a role for pharmacogenetic factors. To address the lack of comprehensive pharmacogenetic data, this study investigated the association between four common UGT1A6 variants - the primary enzyme metabolizing deferiprone - and the occurrence of specific ADRs, considering relevant clinical and personal characteristics.Patients & methods: A retrospective cohort of 178 Iranian β-thalassemia major patients on deferiprone was studied. ADRs - arthralgia, gastrointestinal (GI) complications, neutropenia, and liver enzyme elevations - were defined using clinical guidelines, confirmed by medical records, and supplemented by questionnaires. Four UGT1A6 polymorphisms were genotyped, and associations were evaluated using a complication-specific framework and diplotype - haplotype analyses, adjusting for ten demographic, clinical, and treatment variables.Results: Overall ADR incidence was not significantly associated with individual SNPs. Stratified analysis revealed that the AA - GC diplotype (rs2070959-rs1105879) was associated with reduced arthralgia risk (OR = 0.28, p = 0.022), whereas the GC - AC diplotype was linked to increased GI complication risk (OR = 5.48, p = 0.007) and showed a near-significant association with neutropenia. Female sex was associated only with increased GI complications (p = 0.002).Conclusions: Specific UGT1A6 diplotypes and sex are differentially associated with distinct deferiprone-related ADRs. A complication-specific pharmacogenetic approach can improve understanding of deferiprone-related ADRs.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"719-727"},"PeriodicalIF":1.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12915808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0