Pharmacogenomics最新文献

Impact of genetic variants on fentanyl metabolism in major breast surgery patients: a candidate gene association study. 基因变异对乳腺大手术患者芬太尼代谢的影响：候选基因关联研究。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-11-20 DOI: 10.1080/14622416.2024.2429365

Shathish Kumar, Kesavan Ramasamy, Harivenkatesh Natarajan, Shravan Venkatraman, Vishnu Eriyat, Pankaj Kundra

{"title":"Impact of genetic variants on fentanyl metabolism in major breast surgery patients: a candidate gene association study.","authors":"Shathish Kumar, Kesavan Ramasamy, Harivenkatesh Natarajan, Shravan Venkatraman, Vishnu Eriyat, Pankaj Kundra","doi":"10.1080/14622416.2024.2429365","DOIUrl":"https://doi.org/10.1080/14622416.2024.2429365","url":null,"abstract":"Aim: The study aimed to examine the association of two selected candidate SNPs rs2242480 (CYP3A4) and rs1045642 (ABCB1) with metabolic ratio of plasma norfentanyl to fentanyl concentrations in patients undergoing major breast surgeries.Methods: The retrospective cross-sectional study was done in 257 female patients. DNA extraction, genotyping of selected SNPs, and drug levels measurement were employed.Results: A total of 257 female patients were recruited with no loss to follow up. There was no significant association between the two mentioned SNPs and the metabolic ratio (p value > 0.05). As an exploratory analysis, there was a moderately significant negative correlation between metabolic ratio and pupillary constriction to fentanyl (r = -0.27; p < 0.001). There was also a weak but significant positive correlation between metabolic ratio and time for first analgesia in the postoperative period (r = 0.17; p = 0.01).Conclusion: There was no significant association with the selected candidate SNPs in CYP3A4 and ABCB1 genes and metabolic ratio of norfentanyl to fentanyl in South Indian patients undergoing major breast surgery.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-9"},"PeriodicalIF":1.9,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676502","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

Advancing pharmacogenomics research: automated extraction of insights from PubMed using SpaCy NLP framework. 推进药物基因组学研究：使用 SpaCy NLP 框架从 PubMed 自动提取见解。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-11-20 DOI: 10.1080/14622416.2024.2429946

Esther Camilo Dos Reis, Santiago Caneppa, Pedro Vasconcelos, Paulo Caleb Júnior de Lima Santos

{"title":"Advancing pharmacogenomics research: automated extraction of insights from PubMed using SpaCy NLP framework.","authors":"Esther Camilo Dos Reis, Santiago Caneppa, Pedro Vasconcelos, Paulo Caleb Júnior de Lima Santos","doi":"10.1080/14622416.2024.2429946","DOIUrl":"https://doi.org/10.1080/14622416.2024.2429946","url":null,"abstract":"This paper presents a methodology for automatically extracting insights from PubMed articles using a Natural Language Processing (NLP) framework. Our approach, leveraging advanced NLP techniques and Named Entity Recognition (NER), is crucial for advancing pharmacogenomics and other scientific fields that benefit from streamlined access to literature through automated services like RESTful APIs.Building a new NLP model presents several challenges. First, it is essential to have a thorough understanding of the field in order to define relevant entities. Second, the construction of a diverse and consistent set of examples is crucial. Finally, the effective utilization of pre-established models is of paramount importance, as demonstrated in this work.Our model, validated via ten-fold cross-validation, achieved over 70% recall and precision for all entities in the training set. We provide a reproducible pipeline for the scientific community and propose a structured approach for qualitative analysis and clustering of results. This methodology refines literature reviews, optimizes knowledge extraction, and supports broader application across diverse research domains. An online platform could further extend these benefits to researchers, educators, and practitioners.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-6"},"PeriodicalIF":1.9,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676498","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

PPARA variant rs1800234 had a dose dependent pharmacogenetics impact on the therapeutic response to chiglitazar. PPARA变异体rs1800234对chiglitazar的治疗反应具有剂量依赖性的药物遗传学影响。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-11-18 DOI: 10.1080/14622416.2024.2430163

Zhaoxu Geng, Yuanting Zheng, Qian Li, Desi Pan, Xianping Lu, Fei Chen, Ying Zhang, Keying Li, Kaixin Zhou, Leming Shi, You Wang

{"title":"PPARA variant rs1800234 had a dose dependent pharmacogenetics impact on the therapeutic response to chiglitazar.","authors":"Zhaoxu Geng, Yuanting Zheng, Qian Li, Desi Pan, Xianping Lu, Fei Chen, Ying Zhang, Keying Li, Kaixin Zhou, Leming Shi, You Wang","doi":"10.1080/14622416.2024.2430163","DOIUrl":"10.1080/14622416.2024.2430163","url":null,"abstract":"Background: Our objective was to explore the pharmacogenetic impact of three known functional variants in drug target genes and determine whether they can explain the inter-individual variation in therapeutic response.Methods: In a post hoc analysis of data from randomized controlled clinical trials of chiglitazar, we genotyped 481 Chinese patients with T2DM and investigated the association of variants in PPAR genes with the therapeutic outcome separated by dose using linear regression.Results: rs1800234, a gain-of-function variant of PPARA, had a dose-dependent pharmacogenetic impact on the therapeutic response to chiglitazar. The C allele was significantly associated with reduced therapeutic response in the 48 mg group, while no significant association was observed in the 32 mg group. In addition, in patients without the C allele, patients treated with 48 mg chiglitazar had a better therapeutic response than those treated with 32 mg chiglitazar. To the contrary, in patients with the C allele, patients treated with 48 mg chiglitazar had a worse therapeutic response than those treated with 32 mg of chiglitazar.Conclusion: The PPARA variant rs1800234 had a dose-dependent pharmacogenetic impact on the therapeutic response to chiglitazar. It could help explain the absence of a dose effect of chiglitazar and serve as a potential biomarker for the chosen dose of chiglitazar in the future. In addition, our study provided important reference for the design and clinical application of multi-target drugs.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-6"},"PeriodicalIF":1.9,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648965","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

Hydroxychloroquine-induced acute generalized exanthematous pustulosis with HLA-typing. 羟氯喹诱发的急性全身泛发性脓疱病伴有 HLA-分型。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-11-18 DOI: 10.1080/14622416.2024.2430167

Qiaoli Zheng, Na Jin, Hao Cheng

引用次数: 0

Artificial intelligence, medications, pharmacogenomics, and ethics. 人工智能、药物、药物基因组学和伦理。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-11-15 DOI: 10.1080/14622416.2024.2428587

Susanne B Haga

引用次数: 0

Estimated clinical utility of multi-gene pharmacogenetic testing in a retrospective cohort of gynecology patients. 妇科病人回顾性队列中多基因药物基因检测的临床效用估计。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-11-15 DOI: 10.1080/14622416.2024.2428585

Glenda Hoffecker, Karl Keat, Lakeisha Mulugeta-Gordon, Marjorie Risman, Shefali S Verma, Mary Deagostino-Kelly, Sony Tuteja

{"title":"Estimated clinical utility of multi-gene pharmacogenetic testing in a retrospective cohort of gynecology patients.","authors":"Glenda Hoffecker, Karl Keat, Lakeisha Mulugeta-Gordon, Marjorie Risman, Shefali S Verma, Mary Deagostino-Kelly, Sony Tuteja","doi":"10.1080/14622416.2024.2428585","DOIUrl":"https://doi.org/10.1080/14622416.2024.2428585","url":null,"abstract":"Objective: This study aimed to estimate the clinical utility of performing multi-gene pharmacogenetic testing on patients undergoing gynecologic surgery/procedure by evaluating the prescribing rate of Clinical Pharmacogenetics Implementation Consortium (CPIC) level A medications and frequency of drug-gene interactions (DGIs).Methods: The electronic health record was queried for 76 current procedural terminology codes to identify gynecologic surgeries/procedures that occurred between 1 January 2015 to 31 December 2020 in patients with at least one of 152 international classification of disease codes. Prescription data for CPIC level A medications was extracted. Those enrolled in the Penn Medicine Biobank were assessed for DGIs.Results: The cohort consisted of 7798 female patients and 682 were in the biobank. Up to 6 years following their surgery or procedure, 80% were ordered ≥1 CPIC level A medication. Over half (54%) of these medications were ordered within 3 days after their surgery or procedure. The most common CPIC level A medications ordered were ibuprofen (57%) and ondansetron (42%). Overall, 7% of the cohort had ≥1 known or predicted DGI with medications they were prescribed.Conclusion: Multi-gene pharmacogenetic testing may be beneficial to gynecologic surgery/procedure patients by assisting clinicians with prescribing postoperative analgesics and future medications.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-8"},"PeriodicalIF":1.9,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639447","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

Impact of CYP2D6 and ADRB1 polymorphisms on heart rate of post-PCI patients treated with metoprolol. CYP2D6和ADRB1多态性对接受美托洛尔治疗的PCI术后患者心率的影响

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-05-31 DOI: 10.2217/pgs-2017-0203

Xiaofeng Gao, Huan Wang, Hui Chen

{"title":"Impact of CYP2D6 and ADRB1 polymorphisms on heart rate of post-PCI patients treated with metoprolol.","authors":"Xiaofeng Gao, Huan Wang, Hui Chen","doi":"10.2217/pgs-2017-0203","DOIUrl":"10.2217/pgs-2017-0203","url":null,"abstract":"Aim: To explore the effect of CYP2D6*10 (100C > T) and ADRB1 1165 G > C polymorphisms on heart rate of post-PCI (percutaneous coronary intervention) patients treated with metoprolol succinate sustained-release tablets. Methods: A total of 756 inpatients with metoprolol succinate sustained-release tablets were selected and the genotypes of CYP2D6*10 and ADRB1 1165G > C were detected in 319 patients using gene chip detection. The target heart rate was defined as a resting heart rate < 70 beats/min. Clinical data were collected. Results: A total of 319 inpatients were enrolled in the study. The mutant allele frequencies of CYP2D6 and ADRB1 were 57.21 and 69.44%, respectively. Whatever the dose of metoprolol, the heart rates were lower in patients with homozygous mutation of CYP2D6 than those with heterozygous mutation and wild-type (p < 0.05). Nevertheless, this effect was not seen between different genotypes of ADRB1. Logistic regression analysis showed that the dose of metoprolol and the genotypes of CYP2D6 were predictors of heart rate <70 beats/min in these patients. Further multivariate analysis indicated that patients with homozygous mutation had better control of heart rates compared with those with wild-type and heterozygous mutation of CYP2D6*10 genotypes (all: p < 0.001). Conclusion:CYP2D6*10 polymorphisms were associated with the heart rate of post-PCI patients treated with metoprolol succinate sustained-release tablets.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-9"},"PeriodicalIF":2.1,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35515184","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

Pharmacogenomic implications of the differential distribution of CYP3A5 metabolic phenotypes among Latin American populations. 拉丁美洲人群中 CYP3A5 代谢表型不同分布的药物基因组学意义。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-20 DOI: 10.2217/pgs-2024-0009

Guilherme Suarez-Kurtz, Claudio José Struchiner

引用次数: 0

Knowledge and perceptions of pharmacogenomics among pharmacists in Manitoba, Canada. 加拿大马尼托巴省药剂师对药物基因组学的了解和看法。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-20 DOI: 10.2217/pgs-2024-0013

Abdullah Al Maruf, Meagan Shields, Amber Fryza, Amanda Wondrasek, Christine Leong, Kaarina Kowalec, Chad Bousman

引用次数: 0

Implementation of whole-exome sequencing for pharmacogenomics profiling and exploring its potential clinical utilities. 采用全外显子组测序进行药物基因组学分析，探索其潜在的临床用途。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-21 DOI: 10.2217/pgs-2023-0243

Danyi Wang, Jayaprakasam Bolleddula, Anna Coenen-Stass, Thomas Grombacher, Jennifer Q Dong, Juergen Scheuenpflug, Giuseppe Locatelli, Zheng Feng

引用次数: 0