Pharmacogenomics最新文献_第3页

Genetic profiling of NUDT15 in the Slovenian population. 斯洛文尼亚人群中 NUDT15 的基因图谱分析。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-10-25 DOI: 10.1080/14622416.2024.2409060

Alenka Šmid, Dunja Urbančič, Jaka Vrevc Žlajpah, Natalia Stollarova, Tomaž Prelog, Marko Kavčič, Janez Jazbec, Irena Mlinarič-Raščan, Nataša Karas Kuželički

{"title":"Genetic profiling of NUDT15 in the Slovenian population.","authors":"Alenka Šmid, Dunja Urbančič, Jaka Vrevc Žlajpah, Natalia Stollarova, Tomaž Prelog, Marko Kavčič, Janez Jazbec, Irena Mlinarič-Raščan, Nataša Karas Kuželički","doi":"10.1080/14622416.2024.2409060","DOIUrl":"10.1080/14622416.2024.2409060","url":null,"abstract":"Determining variant TPMT alleles to predict patient response to thiopurine therapy represents one of the first successful implementations of pharmacogenomics in clinical practice. However, despite the TPMT-adjusted thiopurine dosing, some TPMT wild-type patients still exhibit toxicity at standard doses. Over the past decade, the pharmacogene NUDT15 has emerged as a significant co-modulator of thiopurine therapy. Initially, NUDT15 was considered important predominantly in Asian populations, but recent studies have highlighted its relevance in European populations as well.To evaluate the pharmacogenetic significance of NUDT15 in the Slovenian population, we sequenced extended regions of exon 1 and exon 3 in 109 healthy individuals and 37 patients with acute lymphoblastic leukemia.We identified eight variants, including one with established clinical significance (allele *3) and one extremely rare variant (Chr13 at 48045861; GRCh38, NC_000013.11). The frequencies of most previously described variants in both the general population and in the ALL cohort were consistent with those reported in other European populations, except for rs45465203, which was less frequent in the Slovenian population. None of the variants, except for NUDT15*3, were associated with cumulative thiopurine doses in ALL patients. However, these variants warrant further investigation in larger ALL cohorts.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"515-525"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505804","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

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 : 2024-01-01 Epub Date: 2024-11-15 DOI: 10.1080/14622416.2024.2428587

Susanne B Haga

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 : 2024-01-01 Epub 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":"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":"657-660"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11901400/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pharmacogenetic and pharmacogenomic treatment of rheumatoid arthritis: a review of Pharmacogenomics Knowledge Base scientific evidence. 类风湿性关节炎的药物遗传学和药物基因组学治疗：药物基因组学知识库科学证据综述。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-01-17 DOI: 10.2217/pgs-2023-0230

Pedro Dorado, Eva M Peñas-Lledó

引用次数: 0

Pharmacogenetics of Calcineurin inhibitors in kidney transplant recipients: the African gap. A narrative review. 肾移植受者钙神经蛋白抑制剂的药物遗传学：非洲差距。叙述性综述。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-08-07 DOI: 10.1080/14622416.2024.2370761

Sadiq Aliyu Hussaini, Bala Waziri, Caroline Dickens, Raquel Duarte

{"title":"Pharmacogenetics of Calcineurin inhibitors in kidney transplant recipients: the African gap. A narrative review.","authors":"Sadiq Aliyu Hussaini, Bala Waziri, Caroline Dickens, Raquel Duarte","doi":"10.1080/14622416.2024.2370761","DOIUrl":"10.1080/14622416.2024.2370761","url":null,"abstract":"Calcineurin inhibitors (CNIs) are the mainstay of immunosuppression in kidney transplantation. Interpatient variability in the disposition of calcineurin inhibitors is a well-researched phenomenon and has a well-established genetic contribution. There is great diversity in the makeup of African genomes, but very little is known about the pharmacogenetics of CNIs and transplant outcomes. This review focuses on genetic variants of calcineurin inhibitors' metabolizing enzymes (CYP3A4, CYP3A5), related molecules (POR, PPARA) and membrane transporters involved in the metabolism of calcineurin inhibitors. Given the genetic diversity across the African continent, it is imperative to generate pharmacogenetic data, especially in the era of personalized medicine and emphasizes the need for studies specific to African populations. The study of allelic variants in populations where they have greater frequencies will help answer questions regarding their impact. We aim to fill the knowledge gaps by reviewing existing research and highlighting areas where African research can contribute.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":" ","pages":"329-341"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11404701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141898013","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

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 : 2024-01-01 Epub 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":"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":"595-603"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","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

Association of DNA methylation, polymorphism and mRNA level of ALAS1 with antituberculosis drug-induced liver injury. ALAS1的DNA甲基化、多态性和mRNA水平与抗结核药物引起的肝损伤的关系

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-09-12 DOI: 10.1080/14622416.2024.2392480

Zhuolu Hao, Bing Han, Xinyue Zhou, Hongkai Jian, Xiaomin He, Lihuan Lu, Meiling Zhang, Hongqiu Pan, Honggang Yi, Shaowen Tang

引用次数: 0

Predicting laboratory aspirin resistance in Chinese stroke patients using machine learning models by GP1BA polymorphism. 利用GP1BA多态性的机器学习模型预测中国脑卒中患者的实验室阿司匹林耐药性

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2024-01-01 Epub Date: 2024-10-23 DOI: 10.1080/14622416.2024.2411939

Jun Liu, Linkun Pan, Sheng Wang, Yueran Li, Yilai Wu, Jiajie Luan, Kui Yang

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 : 2024-01-01 Epub 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":"605-610"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","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

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 : 2024-01-01 Epub 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":"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":"647-655"},"PeriodicalIF":1.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11901389/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0