Pharmacogenomics最新文献_第9页

Attitudes about pharmacogenomic testing vary by healthcare specialty. 对药物基因组检测的态度因医疗专业而异。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2023-07-01 Epub Date: 2023-07-17 DOI: 10.2217/pgs-2023-0039

Charlene L Preys, Carrie L Blout Zawatsky, Amanda Massmann, Joel Van Heukelom, Robert C Green, Catherine Hajek, Madison R Hickingbotham, Emilie S Zoltick, April Schultz, Kurt D Christensen

引用次数: 0

Carbamazepine cutaneous adverse reactions and HLA gene variation in the Chinese population: a systematic review and meta-analysis. 卡马西平皮肤不良反应与中国人群HLA基因变异:系统回顾和荟萃分析。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2023-06-01 DOI: 10.2217/pgs-2023-0054

Qingli Meng, Hongyan Gu, Qinghua Zhang, Zhanmiao Yi, Dechun Jiang

{"title":"Carbamazepine cutaneous adverse reactions and HLA gene variation in the Chinese population: a systematic review and meta-analysis.","authors":"Qingli Meng, Hongyan Gu, Qinghua Zhang, Zhanmiao Yi, Dechun Jiang","doi":"10.2217/pgs-2023-0054","DOIUrl":"https://doi.org/10.2217/pgs-2023-0054","url":null,"abstract":"Aim: Examining the association between HLA-A/B alleles and different carbamazepine (CBZ)-induced cutaneous adverse reactions in the Chinese population. Methods: A systematic review and meta-analysis of case-control studies was conducted. A systematic search was conducted of PubMed, Embase, the Cochrane Library, National Knowledge Infrastructure, the Chinese Biomedical Literature database and Wanfang Digital Periodicals. Results: 23 studies with a total of 1174 patients were included. In the Han population, HLA-B*15:02 is significantly associated with the increased risk of CBZ-related Stevens-Johnson syndrome/toxic epidermal necrolysis, and this correlation was not related to geographic distribution. HLA-A*31:01, B*38:02 are associated with CBZ-related maculopapular eruption in South Han population. HLA-A*31:01 is associated with CBZ-DRESS in Taiwan Han population. Conclusion: HLA-B*15:02, A*31:01 and B*38:02 genes were found to be involved in the occurrence of CBZ cutaneous adverse reactions in Han Chinese.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9964146","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

Implication of KDM6A in bladder cancer. KDM6A在膀胱癌中的意义。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2023-06-01 DOI: 10.2217/pgs-2023-0027

Marianne Matar, Gilles Prince, Ibrahim Hamati, Maria Baalbaky, Jonas Fares, Marc Aoude, Charbel Matar, Hampig Raphael Kourie

{"title":"Implication of KDM6A in bladder cancer.","authors":"Marianne Matar, Gilles Prince, Ibrahim Hamati, Maria Baalbaky, Jonas Fares, Marc Aoude, Charbel Matar, Hampig Raphael Kourie","doi":"10.2217/pgs-2023-0027","DOIUrl":"https://doi.org/10.2217/pgs-2023-0027","url":null,"abstract":"Background: Bladder cancer is a common urogenital malignancy characterized by frequent genetic alterations. Histone demethylase gene KDM6A is commonly mutated in bladder cancer. Aim: To review the characteristics of KDM6A and its mutation consequences, and to introduce a potential KDM6A-targeted treatment. Methods: We conducted a comprehensive literature search using two electronic databases, MEDLINE and Cochrane Library, to retrieve topic-related articles from July 2013 to July 2022 using keywords 'KDM6A', 'bladder cancer', 'UTX', 'treatment' and 'mutation'. Five reviewers independently screened literature search results and abstracted data from included studies. Descriptive analysis was conducted and 30 articles were retained. Main Results: A total of 30 articles were retrieved. Experimental and clinical data were collected and grouped by theme. Therapeutic strategies are depicted and organized by tables for a better understanding. Conclusion: This review demonstrates that KDM6A has crucial implications in bladder cancer pathogenesis and treatment.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10364849","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

Prescription medications with actionable pharmacogenomic recommendations in Veterans Health Administration patients. 处方药与可行的药物基因组学建议在退伍军人健康管理局的病人。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2023-06-01 DOI: 10.2217/pgs-2023-0018

Saba Maghari, Tyler Gallo, Salvador Rivas, Alexander German, Minh Q Nguyen Le, Hamed Abbaszadegan, Mark A Zubriski, Craig W Heise, Noel D Landas

{"title":"Prescription medications with actionable pharmacogenomic recommendations in Veterans Health Administration patients.","authors":"Saba Maghari, Tyler Gallo, Salvador Rivas, Alexander German, Minh Q Nguyen Le, Hamed Abbaszadegan, Mark A Zubriski, Craig W Heise, Noel D Landas","doi":"10.2217/pgs-2023-0018","DOIUrl":"https://doi.org/10.2217/pgs-2023-0018","url":null,"abstract":"Aim: To evaluate the prevalence of medications with actionable pharmacogenomic (PGx) safety and efficacy recommendations in patients receiving care from the Veterans Health Administration. Materials & methods: Outpatient prescription data from 2011 to 2021 and any documented adverse drug reactions (ADRs) were reviewed for those who received PGx testing at one Veterans Administration location between November 2019 and October 2021. Results: Among the reviewed prescriptions, 381 (32.8%) were associated with an actionable recommendation based on the Clinical Pharmacogenetics Implementation Consortium (CPIC) prescribing guidelines, with 205 (17.7%) for efficacy concerns and 176 (15.2%) for safety concerns. Among those with a documented ADR for a PGx-impacted medication, 39.1% had PGx results that aligned with CPIC recommendations. Conclusion: Medications with actionable PGx recommendations for safety and efficacy concerns are received with similar frequency, and most patients who have undergone PGx testing at the Phoenix Veterans Administration have received medications that may be impacted by PGx testing.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10008158","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

UGT1A1 genotype-guided dosing of irinotecan: time to prioritize patient safety. UGT1A1基因型引导的伊立替康给药:优先考虑患者安全的时间

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2023-06-01 DOI: 10.2217/pgs-2023-0096

Sofía Lj Peeters, Maarten J Deenen, Anna Mj Thijs, Emma C Hulshof, Ron Hj Mathijssen, Hans Gelderblom, Henk-Jan Guchelaar, Jesse J Swen

引用次数: 0

Congruence rates for pharmacogenomic noninterruptive alerts. 药物基因组非干扰性警报的吻合率。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2023-06-01 Epub Date: 2023-07-12 DOI: 10.2217/pgs-2023-0016

Sarah C Mills, Amanda Massmann

引用次数: 0

Associations between SLCO1B1, APOE and CYP2C9 and lipid-lowering efficacy and pharmacokinetics of fluvastatin: a meta-analysis. SLCO1B1、APOE和CYP2C9与氟伐他汀降脂疗效和药代动力学的关系:一项荟萃分析

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2023-06-01 DOI: 10.2217/pgs-2023-0004

Zi Hao Zhang, Li Chao Yue Sun, Hong Yan Gu, De Chun Jiang, Zhan Miao Yi

引用次数: 0

Pharmacogenetics of 6-mercaptopurine in a black Zimbabwean cohort treated for acute lymphoblastic leukaemia. 津巴布韦黑人急性淋巴细胞白血病患者 6-巯基嘌呤的药物遗传学。

IF 1.9 4区医学

Pharmacogenomics Pub Date : 2023-06-01 Epub Date: 2023-05-30 DOI: 10.2217/pgs-2023-0026

Pageneck Chikondowa, Derick Munkombwe, Zedias Chikwambi, Patience Kuona, Collen Masimirembwa

{"title":"Pharmacogenetics of 6-mercaptopurine in a black Zimbabwean cohort treated for acute lymphoblastic leukaemia.","authors":"Pageneck Chikondowa, Derick Munkombwe, Zedias Chikwambi, Patience Kuona, Collen Masimirembwa","doi":"10.2217/pgs-2023-0026","DOIUrl":"10.2217/pgs-2023-0026","url":null,"abstract":"Background: 6-mercaptopurine usage is associated with myelotoxicity and increased risk in patients carrying metabolism-related genetic variations. This study aimed to determine the frequency of candidate gene polymorphisms and their association with 6-mercaptopurine intolerance. Methods: A total of 41 patients on acute lymphoblastic leukaemia treatment were genotyped for TPMT and NUDT15 (rs116855232) alleles, and their association with dose intensity was analyzed. Results: The defective TPMT*3C allele frequency was 9.8%. The median maintenance dose intensity for TPMT*1/*3C participants was considerably lower (47%) when compared with the TPMT*1/*1 wild-type (77%), although not statistically significant. Conclusion: This is the first pharmacogenetics study carried out in a black Zimbabwean leukemia patient cohort. The high defective TPMT*3C (9.8%) allele frequency points to the potential utility of pharmacogenetics testing for safe usage of 6-mercaptopurine in this population.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10463210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10489935","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

Pharmacogenomic markers of metoprolol and α-OH-metoprolol concentrations: a genome-wide association study. 美托洛尔和α- oh -美托洛尔浓度的药物基因组学标记:全基因组关联研究。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2023-06-01 DOI: 10.2217/pgs-2023-0067

Jean Laverdière, Maxime Meloche, Sylvie Provost, Grégoire Leclair, Essaïd Oussaïd, Martin Jutras, Louis-Philippe Lemieux Perreault, Diane Valois, Ian Mongrain, David Busseuil, Jean Lucien Rouleau, Jean-Claude Tardif, Marie-Pierre Dubé, Simon de Denus

{"title":"Pharmacogenomic markers of metoprolol and α-OH-metoprolol concentrations: a genome-wide association study.","authors":"Jean Laverdière, Maxime Meloche, Sylvie Provost, Grégoire Leclair, Essaïd Oussaïd, Martin Jutras, Louis-Philippe Lemieux Perreault, Diane Valois, Ian Mongrain, David Busseuil, Jean Lucien Rouleau, Jean-Claude Tardif, Marie-Pierre Dubé, Simon de Denus","doi":"10.2217/pgs-2023-0067","DOIUrl":"https://doi.org/10.2217/pgs-2023-0067","url":null,"abstract":"Aim: Few genome-wide association studies (GWASs) have been conducted to identify predictors of drug concentrations. The authors therefore sought to discover the pharmacogenomic markers involved in metoprolol pharmacokinetics. Patients & methods: The authors performed a GWAS of a cross-sectional study of 993 patients from the Montreal Heart Institute Biobank taking metoprolol. Results: A total of 391 and 444 SNPs reached the significance threshold of 5 × 10-8 for metoprolol and α-OH-metoprolol concentrations, respectively. All were located on chromosome 22 at or near the CYP2D6 gene, encoding CYP450 2D6, metoprolol's main metabolizing enzyme. Conclusion: The results reinforce previous findings of the importance of the CYP2D6 locus for metoprolol concentrations and confirm that large biobanks can be used to identify genetic determinants of drug pharmacokinetics at a GWAS significance level.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9963819","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

Healthcare professionals' knowledge, confidence and perceptions of pharmacogenomics in primary care and pain management. 保健专业人员的知识，信心和药物基因组学在初级保健和疼痛管理的看法。

IF 2.1 4区医学

Pharmacogenomics Pub Date : 2023-06-01 DOI: 10.2217/pgs-2023-0028

Matthew P Behr, Roseann S Gammal, Michele L Matthews, Victor C Wang

引用次数: 3