Pharmacogenomics Journal最新文献

STRIPE partners in precision medicine: regulatory perspective. 精准医疗领域的STRIPE合作伙伴：监管视角。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-10-04 DOI: 10.1038/s41397-025-00386-x

Wrenda Teeple, Jeffrey A Shaman, Tootie Tatum, Ben L Kong, J Shawn Jones, Sara L Rogers

引用次数: 0

Serine-arginine protein kinase 1 (SRPK1) is under-expressed in mucinous colorectal cancer, and may mediate resistance to oxaliplatin. 丝氨酸-精氨酸蛋白激酶1 （SRPK1）在黏液性结直肠癌中表达不足，可能介导对奥沙利铂的耐药。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-10-03 DOI: 10.1038/s41397-025-00384-z

William P Duggan, Mohammedreza Azimi, Lyndsey Flanagan, Graeme P Sullivan, Ian S Reynolds, Joanna Fay, Heiko Dussmann, Tríona Ní Chonghaile, Katherine M Sheehan, Karin Jirström, Jochen H M Prehn, John P Burke

{"title":"Serine-arginine protein kinase 1 (SRPK1) is under-expressed in mucinous colorectal cancer, and may mediate resistance to oxaliplatin.","authors":"William P Duggan, Mohammedreza Azimi, Lyndsey Flanagan, Graeme P Sullivan, Ian S Reynolds, Joanna Fay, Heiko Dussmann, Tríona Ní Chonghaile, Katherine M Sheehan, Karin Jirström, Jochen H M Prehn, John P Burke","doi":"10.1038/s41397-025-00384-z","DOIUrl":"https://doi.org/10.1038/s41397-025-00384-z","url":null,"abstract":"<p><p>5-15% of all colorectal cancers (CRCs) are mucinous. Mucinous CRCs are associated with an inhibited response to standard adjuvant and neoadjuvant therapies. Serine-Arginine Protein Kinase 1 (SRPK1) is an enzyme, which modulates the activity of multiple splicing factors. SRPK1 under-expression is associated with resistance to platinum-based chemotherapeutic agents in multiple tumor types. The objectives of this study were to evaluate SRPK1 expression in mucinous CRC and to explore the potential relationship between differential SRPK1 expression and oxaliplatin resistance in mucinous CRC. Rectal cancer and CRC Tissue Microarrays (TMA) were stained with SRPK1 to compare expression between mucinous and non-mucinous tumors. SRPK1 expression was analyzed in mucinous and non-mucinous CRC cell lines. Cells were treated with oxaliplatin to explore differences in treatment response. Mucinous cells were transfected with an SRPK1 CRISPR/Cas9 lentiviral activation plasmid to investigate the relationship between SRPK1 expression and oxaliplatin resistance. The TMA cohorts included 117 patients with mucinous and 441 patients with non-mucinous CRC. SRPK1 was found to be under-expressed in both the mucinous rectal cancer (P < 0.001) and CRC cohorts (P = 0.003). On univariate analysis, SRPK1 under-expression was found to be associated with worse 5-year OS (P = 0.001). Treatment of mucinous CRC cells with oxaliplatin did not result in a significant increase in cell death (P = 0.149). However overexpression of SRPK1 following transfection with a CRISPR/CAS9 activation plasmid resulted in a significant increase in sensitivity of these cells to oxaliplatin treatment (P = 0.029). SRPK1 is under-expressed in mucinous CRC, and under-expression is associated with worse OS. This may be due to the positive effects of SRPK1 on oxaliplatin sensitivity.</p>","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"25 5","pages":"26"},"PeriodicalIF":2.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

An innovative model for pharmacogenomics critical results identification and intervention. 药物基因组学的创新模型，关键结果鉴定和干预。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-10-02 DOI: 10.1038/s41397-025-00385-y

Ryley Uber, Vanessa A Hayduk, Alison Flango, Theron Ward, Leeann Webster, Eric A Wright

引用次数: 0

Antidepressant drug switching in the Swiss population with a focus on Escitalopram and drugs with pharmacogenetic dosing guidelines: a drug utilization study using claims data. 以艾司西酞普兰和药物遗传剂量指南为重点的瑞士人群的抗抑郁药物转换：一项使用索赔数据的药物利用研究。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-08-08 DOI: 10.1038/s41397-025-00382-1

M M Roth, C R Meier, C A Huber, H E Meyer Zu Schwabedissen, S Allemann, C Schneider

引用次数: 0

Benchmarking large language models for replication of guideline-based PGx recommendations 对大型语言模型进行基准测试，以复制基于指南的PGx建议。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-07-26 DOI: 10.1038/s41397-025-00383-0

Mike Zack, Ioan Slobodchikov, Danil Stupichev, Alex Moore, David Sokolov, Igor Trifonov, Allan Gobbs

引用次数: 0

Impact of low BMI and ABCC2 genotype on the clinical response of sequential anthracycline-taxane chemotherapy receiving breast cancer patients: a hospital-based study 低BMI和ABCC2基因型对序贯蒽环类-紫杉烷化疗乳腺癌患者临床疗效的影响：一项基于医院的研究

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-07-16 DOI: 10.1038/s41397-025-00380-3

Tanuma Mistry, Sanghamitra Sengupta, R. Suresh Kumar, Nisha Thakur, Partha Nath, Neyaz Alam, Vilas D. Nasare

{"title":"Impact of low BMI and ABCC2 genotype on the clinical response of sequential anthracycline-taxane chemotherapy receiving breast cancer patients: a hospital-based study","authors":"Tanuma Mistry, Sanghamitra Sengupta, R. Suresh Kumar, Nisha Thakur, Partha Nath, Neyaz Alam, Vilas D. Nasare","doi":"10.1038/s41397-025-00380-3","DOIUrl":"10.1038/s41397-025-00380-3","url":null,"abstract":"This study investigates combine effect of low BMI and possible pharmacogenetic influence of ABC gene polymorphisms in treatment responses of BC patients. BMI was analysed prior to commencement of chemotherapy. Clinical response was evaluated by radiological imaging and categorised as per RECISTv.1 criteria. SNPs (C1236T, C3435T, C58626A) in ABCB1 and ABCC2 gene were selected. 148 patients were analysed using PCR-RFLP. ABCC2 (58626AA) was significantly associated with treatment non-responsiveness in all genetic models namely dominant (OR 2.954; [1.442–6.051]; p = 0.003), recessive (OR 5.723; [2.48–13.20]; p < 0.0001), codominant (χ2 21.219; p < 0.0001). The proportion of ORR and NRs were significantly different between low (<18.5) and high (≥18.5) BMI classes (OR 16.097; [7.12–36.35]; p < 0.0001). Furthermore, when treatment response was combined with BMI groups, significant associations were observed for C58626A SNP across all genetic models among low BMI group: dominant (OR 3.324; [1.012–10.406]; p = 0.041), recessive (OR 7.250; [1.533–34.278]; p = 0.012) and codominant (χ2 8.657; p = 0.013). Both PFS (35.31 months; p = 0.005) and OS (39.75 months; p = 0.032) were lowered among AA genotype (ABCC2) while the hazard risk of this genotype was further increased in low BMI patients (HR 1.963). 3435CT genotypes in ABCB1 gene showed 87% reduction in risk of death (HR 0.13; p = 0.025). Low BMI independently and jointly with 58626AA genotype of ABCC2 gene was responsible for poor chemotherapy response and survival outcome among AC-T regimen receiving BC patients. Together, this study underscores the importance of genetic counselling and nutritional assessment for favourable treatment outcomes.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"25 4","pages":"1-9"},"PeriodicalIF":2.9,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144651220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Correction: Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity 更正：将罕见的遗传变异纳入DPYD药理学检测可能有助于预防氟嘧啶引起的毒性。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-07-15 DOI: 10.1038/s41397-025-00381-2

Romain Larrue, Sandy Fellah, Benjamin Hennart, Naoual Sabaouni, Nihad Boukrout, Cynthia Van der Hauwaert, Clément Delage, Meyling Cheok, Michaël Perrais, Christelle Cauffiez, Delphine Allorge, Nicolas Pottier

引用次数: 0

Pharmacogenomic-guided opioid therapy for pain: a systematic review and meta-analysis of randomised controlled trials 药物基因组学指导的阿片类药物治疗疼痛：随机对照试验的系统回顾和荟萃分析。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-07-12 DOI: 10.1038/s41397-025-00379-w

S. Jethwa, M. Ball, K. Langlands

引用次数: 0

Utilisation of drugs with pharmacogenetic recommendations in children in Switzerland 瑞士儿童药物遗传学建议用药情况。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-07-11 DOI: 10.1038/s41397-025-00378-x

Nina L. Wittwer, Christoph R. Meier, Carola A. Huber, Romy Tilen, Canan Yilmaz, Henriette E. Meyer zu Schwabedissen, Samuel Allemann, Cornelia Schneider

引用次数: 0

Analyzing pharmacogenetics cost effectiveness and savings across common health conditions in the United States 分析美国常见健康状况的药物遗传学成本效益和节省。

IF 2.9 3区医学

Pharmacogenomics Journal Pub Date : 2025-07-08 DOI: 10.1038/s41397-025-00376-z

Mayuri S. Patel, Emily J. Cicali, Frank A. Orlando

{"title":"Analyzing pharmacogenetics cost effectiveness and savings across common health conditions in the United States","authors":"Mayuri S. Patel, Emily J. Cicali, Frank A. Orlando","doi":"10.1038/s41397-025-00376-z","DOIUrl":"10.1038/s41397-025-00376-z","url":null,"abstract":"This review describes healthcare cost effectiveness/savings for pharmacogenetics (PGx) and relevant clinical outcomes in selected common health conditions. PGx allows targeted drug treatment based on genotype and phenotype. Studies highlight how PGx testing reduces the morbidity and mortality of adverse drug reactions (ADRs) by predicting unexpected drug metabolism due to genetic variation in cytochrome P450 enzymes (CYPs) and drug-drug interactions caused by altered CYP enzyme phenotype. Despite many available PGx testing platforms and PGx-guided treatments, clinical implementation remains challenging and slow due to limited (1) insurance coverage and reimbursement of testing and pharmacist interpretation, (2) outcome data such as evidence showing the benefits of preemptive PGx testing for efficacy or ADR prevention, and (3) promotion of PGx testing among healthcare professionals. Of these, cost is the most significant barrier to patients and the healthcare system. This review describes how PGx testing can be cost effective or cost saving for payors and the healthcare system, especially for depression, cardiovascular disease, and ADRs.","PeriodicalId":54624,"journal":{"name":"Pharmacogenomics Journal","volume":"25 4","pages":"1-8"},"PeriodicalIF":2.9,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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