Pharmacogenomics最新文献

Pharmacogenetic markers and macrolide safety in influenza patients: insights from a prospective study. 流感患者的药物遗传标记和大环内酯安全性：来自一项前瞻性研究的见解。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-01-19 DOI: 10.1080/14622416.2025.2454217

A A Skryabina, V V Nikiforov, M Z Shakhmardanov, M S Zastrozhin, D A Sychev

{"title":"Pharmacogenetic markers and macrolide safety in influenza patients: insights from a prospective study.","authors":"A A Skryabina, V V Nikiforov, M Z Shakhmardanov, M S Zastrozhin, D A Sychev","doi":"10.1080/14622416.2025.2454217","DOIUrl":"https://doi.org/10.1080/14622416.2025.2454217","url":null,"abstract":"Background: Macrolides are widely used antibiotics, but adverse drug reactions (ADRs), particularly in genetically predisposed individuals, can compromise their safety. This study examines the impact of pharmacogenetic markers on macrolide safety in participants with bacterial complications of influenza.Objective: To evaluate how polymorphisms in genes encoding transporter proteins (ABCB1) and enzymes (CYP3A4, CYP3A5) influence ADR risk during macrolide therapy.Methods: A prospective study included 100 participants with lower respiratory tract bacterial complications of influenza treated with azithromycin or erythromycin for five days. Genotyping targeted ABCB1 (3435C>T), CYP3A4 (C>T intron 6), and CYP3A5 (6986A>G) polymorphisms. ADRs were monitored daily and correlated with genetic markers.Results: The ABCB1 (3435C>T) polymorphism was associated with higher rates of abdominal pain and diarrhea in CT and TT genotypes (OR = 2.12, p = 0.043). The CYP3A4 (C>T intron 6) polymorphism increased ADR risk in erythromycin-treated participants (OR = 24.0, p = 0.0339). No significant effects were observed for CYP3A5 (6986A>G).Conclusion: Genetic polymorphisms in ABCB1 and CYP3A4 genes predict macrolide-related ADRs. Pharmacogenetic screening could improve macrolide safety, particularly for genetically susceptible individuals.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-5"},"PeriodicalIF":1.9,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009703","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 curriculum in Australian medical schools: a content analysis study. 澳大利亚医学院药物基因组学课程：内容分析研究。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-01-17 DOI: 10.1080/14622416.2025.2452834

Jade Thomas, Faith R Yong, Natalia Kryzyaniak, Christy Noble, Christopher R Freeman

{"title":"Pharmacogenomic curriculum in Australian medical schools: a content analysis study.","authors":"Jade Thomas, Faith R Yong, Natalia Kryzyaniak, Christy Noble, Christopher R Freeman","doi":"10.1080/14622416.2025.2452834","DOIUrl":"https://doi.org/10.1080/14622416.2025.2452834","url":null,"abstract":"Aims: To ascertain and describe pharmacogenomic concepts included in the intended curriculum of accredited Australian medical schools.Methods: Content analysis of curriculum learning objectives of Australian medical schools was conducted, focusing on keywords and phrases pertaining to pharmacogenomic education. Learning objectives related to pharmacogenomics were categorized using (1) undergraduate medical genomic competencies per the Association of Professors in Human and Medical Genetics (2) Bloom's Taxonomy for cognitive and knowledge dimensions and (3) knowledge translation (enabling science, translation science and clinical implementation).Results: The curricula of 19 accredited medical schools in Australia were analyzed. Two-thirds (68%) contained genomic/pharmacogenomic education. Eight schools had content relating to undergraduate medical genomic competencies. Of those which had pharmacogenomic-related learning objectives, the majority (65%) were categorized in Bloom's Taxonomy's lower levels (Remember and Understand) and 15% were deemed to be at the level of 'Clinical Implementation.'Conclusion: The majority of Australian medical schools have incorporated pharmacogenomics in their current curriculum; however, learning objectives addressing application and clinical implementation are required. Doctors have a unique role to play in implementing pharmacogenomics into clinical practice. Comprehensiveness of course curricula across all learning domains would support uptake of pharmacogenomics into routine practice.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-9"},"PeriodicalIF":1.9,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009707","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

CYP2C19 and CES1 gene variants affecting clopidogrel metabolism in a South Asian population from Sri Lanka. 斯里兰卡南亚人群中影响氯吡格雷代谢的 CYP2C19 和 CES1 基因变异。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2025-01-14 DOI: 10.1080/14622416.2025.2452835

Priyanga Ranasinghe, Pulasthi B Gunarathna, Hajanthy Jeyapragasam, Nirmala Sirisena, D P Bhagya Hendalage, Vajira H W Dissanayake

{"title":"CYP2C19 and CES1 gene variants affecting clopidogrel metabolism in a South Asian population from Sri Lanka.","authors":"Priyanga Ranasinghe, Pulasthi B Gunarathna, Hajanthy Jeyapragasam, Nirmala Sirisena, D P Bhagya Hendalage, Vajira H W Dissanayake","doi":"10.1080/14622416.2025.2452835","DOIUrl":"https://doi.org/10.1080/14622416.2025.2452835","url":null,"abstract":"Aims: Clopidogrel exhibits substantial variability in therapeutic response, largely contributed by genetic factors. The pharmacogenomic variants data on clopidogrel metabolism in South Asians have been sparsely studied. This study explores the impact of CYP2C19 and CES1 gene variants on clopidogrel metabolism in Sri Lankans, revealing significant pharmacogenomic insights with broader implications for South Asians.Materials & methods: Genotype data were filtered out from an anonymized database of 690 Sri Lankans, and minor allele frequencies (MAFs) were calculated. Five variants of CYP2C19 and one variant of CES1 gene were studied.Results: Among the five CYP2C19 variants studied, rs12769205 (A>G) and rs4244285 (G>A) had the highest MAF of 42.1% and 42.0%, respectively. The CES1 variant rs71647871 (C>T) showed a MAF of 0.2%. Sri Lankans exhibited significantly higher MAFs for key variants compared to populations such as Europeans, African Americans, and East Asians (p < 0.05).Conclusion: Given that South Asians share genetic similarities, these findings suggest that a substantial proportion of the region's population may also be poor responders to clopidogrel, increasing the risk of adverse outcomes. This highlights the importance of genotype-guided antiplatelet therapy, which could improve clinical outcomes across South Asia amidst rising cardiovascular disease rates.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"1-4"},"PeriodicalIF":1.9,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984386","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

Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization. 普拉德-威利综合征的药物基因组学：护理人员的兴趣和计划利用。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-20 DOI: 10.2217/pgs-2023-0189

Yael Bar-Peled, Jessica J Denton, Jaimie L Richards, Donna Brown, Elizabeth Worthey, Theresa V Strong

引用次数: 0

Ethnic differences in pharmacogenomic variants: a south Asian perspective. 药物基因组变异的种族差异：南亚视角。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-03-01 Epub Date: 2024-03-21 DOI: 10.2217/pgs-2024-0026

Bani Jolly, Vinod Scaria

引用次数: 0

Targeting RET mutation in medullary thyroid cancer. 针对甲状腺髓样癌的 RET 突变。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-02-01 Epub Date: 2024-03-07 DOI: 10.2217/pgs-2023-0234

Tarek Assi, Zamzam Tikriti, Annoir Shayya, Rebecca Ibrahim

引用次数: 0