Pharmacogenomics最新文献

Genetics and response to treatment with metformin for type 2 diabetes. 遗传学和二甲双胍治疗2型糖尿病的反应。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-10-01 DOI: 10.1080/14622416.2025.2565992

Laurence Tessier, Sophie St-Amour, Dorianne Simard, Joanie Bouchard, Patrice Perron, Karine Tremblay

引用次数: 0

Molecular markers of treatment irregularity of statins: influence of polymorphisms in SLCO1B1 and SLCO1B3. 他汀类药物治疗不规则性的分子标记：SLCO1B1和SLCO1B3多态性的影响。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-29 DOI: 10.1080/14622416.2025.2562797

Jéssica Louise Benelli, Lisiane Smiderle, Silvana de Almeida, Mara Helena Hutz, Cézar R Van der Sand, Luiz C Van der Sand, Maria E W Ferreira, Renan C Pires, Marilu Fiegenbaum

{"title":"Molecular markers of treatment irregularity of statins: influence of polymorphisms in SLCO1B1 and SLCO1B3.","authors":"Jéssica Louise Benelli, Lisiane Smiderle, Silvana de Almeida, Mara Helena Hutz, Cézar R Van der Sand, Luiz C Van der Sand, Maria E W Ferreira, Renan C Pires, Marilu Fiegenbaum","doi":"10.1080/14622416.2025.2562797","DOIUrl":"https://doi.org/10.1080/14622416.2025.2562797","url":null,"abstract":"Background and aims: The SLCO gene family encodes OATP-like transporters that interact with statins and may influence their efficacy. Consequently, these genes are key targets in pharmacogenetic studies, and associations between SLCO1B1 variants and statin therapeutic response have already been demonstrated. The aim of this study was to evaluate the association between the SLCO1B1 gene polymorphisms rs2306283, rs11045819, rs4149056, and the SLCO1B3 gene polymorphism rs4149117, and the regularity of statin treatment.Material and methods: This was a cohort study involving the review of 477 patient medical records and genotyping for the variants of interest. All patients were on simvastatin or atorvastatin therapy. Cox regression analysis was used to assess the association between genotypes and treatment regularity. Irregular treatment was defined by the occurrence of one or more of the following: 1) dose increase, 2) dose reduction, 3) treatment discontinuation, or 4) statin substitution.Results: For rs2306283 (c.388A > G), carriers of the G allele had a significantly higher risk of treatment irregularities (Hazard Ratio: 1.50; 95% CI: 1.05-2.13; p = 0.024). For rs4149056 (c.521T > C), CC homozygotes showed a significantly increased risk of statin substitution and treatment discontinuation (Hazard Ratio: 2.16; 95% CI: 1.04-4.44; p = 0.037).Conclusion: Our findings suggest an association between specific SLCO gene variants and irregularities in statin treatment.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-7"},"PeriodicalIF":1.9,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145186431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

CYP2D6 genotyping in a Korean cohort: comparative analysis with Asian, Caucasian, and African populations. 韩国队列CYP2D6基因分型：与亚洲、高加索和非洲人群的比较分析

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-26 DOI: 10.1080/14622416.2025.2565993

Tak Don Kim, Jung-Sook Kwak, Jae-Gook Shin, Ho-Sook Kim, Young-Ran Yoon, Mi-Ri Gwon, Min-Gul Kim, Seol Ju Moon, SeungHwan Lee, Chan Song Park, Ji Hye Song, Jang Hee Hong, Jung Sunwoo

{"title":"CYP2D6 genotyping in a Korean cohort: comparative analysis with Asian, Caucasian, and African populations.","authors":"Tak Don Kim, Jung-Sook Kwak, Jae-Gook Shin, Ho-Sook Kim, Young-Ran Yoon, Mi-Ri Gwon, Min-Gul Kim, Seol Ju Moon, SeungHwan Lee, Chan Song Park, Ji Hye Song, Jang Hee Hong, Jung Sunwoo","doi":"10.1080/14622416.2025.2565993","DOIUrl":"https://doi.org/10.1080/14622416.2025.2565993","url":null,"abstract":"Background: Cytochrome P450 2D6 (CYP2D6) is a highly polymorphic enzyme responsible for metabolizing approximately 20% of commonly prescribed drugs. Its genetic variability contributes to interindividual and interethnic differences in drug response. However, large-scale studies on CYP2D6 allele distributions in the Korean population remain limited.Methods: We conducted CYP2D6 genotyping, including copy number variation analysis, in 3,874 unrelated Korean individuals recruited from five university hospitals. Genotypes were assigned diplotypes and phenotypes using the CPIC activity score system.Results: The most frequent allele was the decreased-function *10 (44.9%), followed by normal-function *1 (32.8%) and 2 (11.0%). The gene deletion five accounted for 5.7%. Among phenotypes, 62.2% were extensive metabolizers, 36.1% intermediate metabolizers, 0.9% ultrarapid metabolizers, and 0.4% poor metabolizers. We also identified CYP2D6 × 65, previously unreported in Koreans, and a novel duplication variant, CYP2D6 × 49x2.Conclusion: This is the largest study of CYP2D6 polymorphisms in a Korean population to date. It provides a comprehensive reference for Korean pharmacogenomics and highlights important interethnic differences. The findings support the development of personalized medicine strategies based on population-specific pharmacogenetic data.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-10"},"PeriodicalIF":1.9,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Patient comprehension of preemptive pharmacogenomic results. 患者对预先药物基因组学结果的理解。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-25 DOI: 10.1080/14622416.2025.2565994

Joel E Pacyna, Suzette J Bielinski, Janet E Olson, Richard R Sharp

{"title":"Patient comprehension of preemptive pharmacogenomic results.","authors":"Joel E Pacyna, Suzette J Bielinski, Janet E Olson, Richard R Sharp","doi":"10.1080/14622416.2025.2565994","DOIUrl":"https://doi.org/10.1080/14622416.2025.2565994","url":null,"abstract":"Background: Preemptive pharmacogenomic (PGx) testing is a candidate for broad implementation because of its potential to improve medication safety and outcomes. However, little is known about how patients may process preemptively generated PGx information.Methods: We conducted a survey study in a cohort of 5,000 individuals receiving preemptive PGx testing in a primary care clinic in the USA. We assessed patients' perceived understanding of results and confidence in current prescription drugs and doses before and after they received PGx information.Results: 4,624 individuals completed the pre-results survey (92.8% survey completion rate), and 3,408 (74.4% of pre-results survey completers) completed the post-results survey. Participants currently taking prescription medications were more likely to report inability to understand their PGx results. Additionally, participants' confidence in their current prescription drugs and drug doses declined following receipt of PGx results, and this decline was associated with number of prescriptions and perceived understanding of PGx results. Health literacy and educational attainment were not associated with reduced confidence.Conclusion: As preemptive PGx testing is considered for implementation in primary care settings, care must be taken to support patients with preexisting prescriptions to ensure adequate understanding of the immediate relevancy and actionability of PGx results in their healthcare.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-7"},"PeriodicalIF":1.9,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Scoping review of associations between cytochrome P450 3A4/5 single nucleotide polymorphisms and risk factors for fentanyl overdose. 细胞色素P450 3A4/5单核苷酸多态性与芬太尼过量危险因素之间关系的范围综述。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-21 DOI: 10.1080/14622416.2025.2562796

Dan Petrovitch, Katie P Himes, Jason J Bischof, Robert S Braun, Jennifer L Brown, Isaiah C Eleda, Caroline E Freiermuth, Shaopeng Gu, O Trent Hall, Julie A Johnson, David F Kisor, Joshua W Lambert, Michael S Lyons, Morgan V Maloney, Brittany E Punches, Emma Quarles, Andrew K Littlefield, Jon E Sprague

{"title":"Scoping review of associations between cytochrome P450 3A4/5 single nucleotide polymorphisms and risk factors for fentanyl overdose.","authors":"Dan Petrovitch, Katie P Himes, Jason J Bischof, Robert S Braun, Jennifer L Brown, Isaiah C Eleda, Caroline E Freiermuth, Shaopeng Gu, O Trent Hall, Julie A Johnson, David F Kisor, Joshua W Lambert, Michael S Lyons, Morgan V Maloney, Brittany E Punches, Emma Quarles, Andrew K Littlefield, Jon E Sprague","doi":"10.1080/14622416.2025.2562796","DOIUrl":"https://doi.org/10.1080/14622416.2025.2562796","url":null,"abstract":"Introduction: Fentanyl overdose is a public health crisis in the United States, as fentanyl was implicated in nearly 70% of drug overdose deaths in 2023. To provide insight into genetic factors that may influence risk of fentanyl overdose, we conducted a scoping review of associations between cytochrome P450 3A4 (CYP3A4) and 3A5 (CYP3A5) genetic variants and relevant phenotypes.Areas covered: We searched databases through August 2025 for peer-reviewed studies of human subjects or postmortem samples, and integrated evidence from 64 genetic association studies that analyzed single nucleotide polymorphisms in CYP3A4 or CYP3A5. We considered a diverse range of phenotypes relevant to fentanyl overdose, including opioid overdose, fentanyl pharmacokinetics and pharmacodynamics, opioid use (disorder), and pharmacotherapy response.Expert opinion and commentary: Evidence from 64 studies suggested that the no-function CYP3A5 * 3 (rs776746) allele contributes to increased fentanyl overdose risk, with strongest support coming from studies of fentanyl pharmacokinetics in clinical settings. There was less robust evidence for the role of CYP3A4 variants (e.g. rs2242480). Future research should prioritize prospective genotyping of at-risk populations, development of models that integrate pharmacogenetics with psychiatric genetics, and large-scale harmonization of relevant datasets.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-35"},"PeriodicalIF":1.9,"publicationDate":"2025-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

How to implement pre-emptive pharmacogenetic testing in the acute hospital setting. 如何在急性病医院实施先发制人的药物遗传学检测。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-19 DOI: 10.1080/14622416.2025.2560295

John Henry McDermott, Ali Shoaib, Jessica Keen, Charlotte Skitterall, Videha Sharma, William Gerard Newman

引用次数: 0

Assessing patient understanding of pharmacogenomic test results: a qualitative study. 评估患者对药物基因组学测试结果的理解：一项定性研究。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-18 DOI: 10.1080/14622416.2025.2560292

Tom A Doyle, Samantha L Vershaw, Karen K Schmidt, Todd C Skaar, Peter H Schwartz

{"title":"Assessing patient understanding of pharmacogenomic test results: a qualitative study.","authors":"Tom A Doyle, Samantha L Vershaw, Karen K Schmidt, Todd C Skaar, Peter H Schwartz","doi":"10.1080/14622416.2025.2560292","DOIUrl":"https://doi.org/10.1080/14622416.2025.2560292","url":null,"abstract":"Aim: To examine whether patients with depression or chronic/acute pain understand the results of pharmacogenomic testing they had done as part of clinical research.Methods: Semi-structured interviews were conducted with 45 patients who underwent pharmacogenomic testing and subsequently received their testing results by mail. These interviews assessed whether participants were aware that they had testing, how this testing impacted their current medications, and whether they grasped the future significance of this testing. A grounded theory approach was used to analyze this interview data.Results: All of our participants were aware that they had underwent medical testing and 23 (51%) were aware that this testing was genetic and was used to guide medication management. Almost all of our participants believed it was important to share their results with future providers and 24 (53%) recognized that their results could impact future medication management. Thirteen (29%) participants stated that their results found medicines they should avoid and eight named specific medicines they believed should be avoided based on their results.Conclusion: Although our participants exhibited a general understanding of their pharmacogenomic results, we found that they lacked a sufficient understanding of how these results specifically impacted their current and future healthcare.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-10"},"PeriodicalIF":1.9,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A genome-wide association study of stroke risk in Asian statin users: evidence from KoGES and UK Biobank. 亚洲他汀类药物使用者中风风险的全基因组关联研究：来自KoGES和UK Biobank的证据。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-15 DOI: 10.1080/14622416.2025.2558499

Da Hoon Lee, Yoon-A Park, Jung Sun Kim, Yubin Song, SeungJin Bae, Jeong Yee, Hye Sun Gwak

{"title":"A genome-wide association study of stroke risk in Asian statin users: evidence from KoGES and UK Biobank.","authors":"Da Hoon Lee, Yoon-A Park, Jung Sun Kim, Yubin Song, SeungJin Bae, Jeong Yee, Hye Sun Gwak","doi":"10.1080/14622416.2025.2558499","DOIUrl":"https://doi.org/10.1080/14622416.2025.2558499","url":null,"abstract":"Background: Despite proven efficacy of statins in stroke prevention, genetic factors may influence individual stroke risk among statin users. With increasing precision medicine approaches and growing evidence of population-specific genetic variations, identifying genetic markers that predict stroke risk in statin-treated Asian populations has become critically important for personalized cardiovascular prevention strategies.Methods: We conducted a genome-wide association study of 1,678 participants using lipid-lowering agents in the Korean Genome and Epidemiology Study (KoGES) cohort. Significant findings were replicated in 2,170 Asian participants on statins from the UK Biobank using an additive genetic model adjusted for relevant covariates.Results: In the discovery analysis, 83 single nucleotide polymorphisms were suggestively associated with stroke (p <1.0 × 10-5). Among these, 21 SNPs in the CDH13 gene were associated with increased stroke risk. The lead SNP, rs7201829, was significantly replicated in the UK Biobank (odds ratio: 2.29, p = 2.39 × 10-5).Conclusions: This study identified CDH13 as a significant genetic marker associated with stroke risk among Asian statin users. These findings provide the first genome-wide evidence for genetic determinants of stroke susceptibility during statin therapy, supporting the development of personalized prevention strategies in Asian populations.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-7"},"PeriodicalIF":1.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring precision medicine by utilizing individual genetic information for the management of Alzheimer's disease. 探索利用个体遗传信息管理阿尔茨海默病的精准医学。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-15 DOI: 10.1080/14622416.2025.2560296

Anmol Kanda, Anjna Rani, Avijit Mazumder

{"title":"Exploring precision medicine by utilizing individual genetic information for the management of Alzheimer's disease.","authors":"Anmol Kanda, Anjna Rani, Avijit Mazumder","doi":"10.1080/14622416.2025.2560296","DOIUrl":"https://doi.org/10.1080/14622416.2025.2560296","url":null,"abstract":"Alzheimer's Disease (AD) represents a formidable challenge in neurology, characterized by progressive neurodegeneration and cognitive decline. Traditional therapeutic approaches have failed to deliver significant outcomes, underscoring the need for innovative paradigms such as precision medicine. The review explores integrating genomic, biomarker-driven, and individualized therapeutic strategies to tackle AD. It examines the role of key genetic factors, including APOE and MTHFR polymorphisms, in influencing disease susceptibility and treatment responses. Advances in biomarker technologies, such as blood-based and imaging biomarkers, are highlighted for their potential in early diagnosis and patient stratification. Additionally, the review underscores the importance of tailoring interventions across different stages of AD, incorporating lifestyle modifications and emerging tools like artificial intelligence & recent patented technologies. Precision medicine offers a transformative pathway, aiming to deliver personalized, effective care that addresses the complex and multifactorial nature of AD. The paradigm shift promises improved clinical outcomes and enhanced patient quality of life.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-20"},"PeriodicalIF":1.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Liquid biopsy: an essential tool for metastatic breast cancer's follow-up. 液体活检：转移性乳腺癌随访的重要工具。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-09-15 DOI: 10.1080/14622416.2025.2558500

Joe Chalhoub, Mélissa El Hajj, Tia Kreidy, Moustapha Rteil, Roland Eid, Hampig Raphael Kourie

{"title":"Liquid biopsy: an essential tool for metastatic breast cancer's follow-up.","authors":"Joe Chalhoub, Mélissa El Hajj, Tia Kreidy, Moustapha Rteil, Roland Eid, Hampig Raphael Kourie","doi":"10.1080/14622416.2025.2558500","DOIUrl":"https://doi.org/10.1080/14622416.2025.2558500","url":null,"abstract":"Breast cancer is the most common malignancy in women worldwide. While personalized treatment options are obstructed by the limitations of conventional biopsy follow-up, the liquid biopsy could detect the tumor's characteristics in order to reach a more targeted therapy for metastatic breast cancer patients. The aim of this article is to review the characteristics of the liquid biopsy in the follow-up of metastatic breast cancer patients. A comprehensive literature search was conducted using the PubMed literature to retrieve topic-related articles using keywords 'metastatic breast cancer,' 'liquid biopsy' and 'follow up.' A descriptive analysis was undertaken, and 29 original articles were retained. The study of blood biomarkers is being used in the monitoring and follow-up of metastatic breast cancer. It is used to determine the survival rate based on different biomarkers and monitor the response to treatment through the status of the tumor. This review describes the latest findings on breast cancer's circulating tumor cells, circulating cell-free DNA, circulating tumor DNA, proteomes, and extracellular vesicles (exosomes) in the plasma. Our literature review revealed that the liquid biopsy is capable of detecting breast cancer biomarkers in order to monitor breast cancer patients, improve their treatment choices and predict their prognosis more accurately.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-11"},"PeriodicalIF":1.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0