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Diversity of oncopharmacogenetic profile within Spanish population. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-03-18 Irene Ferrer Bolufer, Ximo Galiana Vallés, Silvia Izquierdo Álvarez, Ana Serrano Mira, Carola Guzmán Luján, María José Safont Aguilera, Ricardo González Tarancón, Matilde Bolaños Naranjo, Pilar Carrasco Salas, María Santamaría González, Raquel Rodríguez-López
Consensus guidelines for genotype-guided fluoropyrimidine dosing based on variation in the dihydropyrimidine dehydrogenase (DPYD) gene before treatment have been firmly established. The prior pharmacogenetic report avoids the serious toxicity that inevitably occurred in a non-negligible percentage of the treated patients. The precise description of the allelic distribution of the variants of interest
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Precision dosing for patients on tricyclic antidepressants. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-03-11 Zahi Nakad, Yolande Saab
We aim to develop a personalized dosing tool for tricyclic antidepressants (TCAs) that integrates CYP2D6 and CYP2C19 gene variants and their effects while also considering the polypharmacy effect.
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Associations of ADH1B and ALDH2 genotypes and alcohol flushing with drinking history, withdrawal symptoms, and ICD-10 criteria in Japanese alcohol-dependent men. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-03-11 Akira Yokoyama, Tetsuji Yokoyama, Yosuke Yumoto, Tsuyoshi Takimura, Tomomi Toyama, Junichi Yoneda, Kotaro Nishimura, Ruriko Minobe, Takanobu Matsuzaki, Mitsuru Kimura, Sachio Matsushita
Given the high prevalence of fast-metabolizing alcohol dehydrogenase-1B*2 (ADH1B*2) and inactive aldehyde dehydrogenase-2*2 (ALDH2*2) alleles in East Asians, we evaluated how the ADH1B/ALDH2 genotypes and alcohol flushing might affect the development of alcohol dependence (AD).
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Association between CYP2C9 and VKORC1 genetic polymorphisms and efficacy and safety of warfarin in Chinese patients. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-03-07 Suli Zhang, Mingzhe Zhao, Shilong Zhong, Jiamin Niu, Lijuan Zhou, Bin Zhu, Haili Su, Wei Cao, Qinghe Xing, Hongli Yan, Xia Han, Qihua Fu, Qiang Li, Luan Chen, Fan Yang, Na Zhang, Hao Wu, Lin He, Shengying Qin
Genetic variation has been a major contributor to interindividual variability of warfarin dosage requirement. The specific genetic factors contributing to warfarin bleeding complications are largely unknown, particularly in Chinese patients. In this study, 896 Chinese patients were enrolled to explore the effect of CYP2C9 and VKORC1 genetic variations on both the efficacy and safety of warfarin therapy
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Prevalence of CYP2D6 structural variation in large retrospective study. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-02-19 Samantha Frear, Ashley Sherman, Don Rule, Lauren Ann Marcath
CYP2D6 is a highly polymorphic gene with clinically important structural variations. Commonly, only exon 9 is assayed on clinical pharmacogenomics panels, as it allows for accurate functional characterization even in the presence of a CYP2D6::CYP2D7 conversion. However, this method does not capture CYP2D7::CYP2D6 (CYP2D6*13) conversions, possibly leading to inaccurate phenotype assignment. The study's
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Pharmacogenetic considerations in therapy with novel antiplatelet and anticoagulant agents. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-02-19 Anthony Yazbeck, Reem Akika, Zainab Awada, Nathalie K Zgheib
Antiplatelets and anticoagulants are extensively used in cardiovascular medicine for the prevention and treatment of thrombosis in the venous and arterial circulations. Wide inter-individual variability has been observed in response to antiplatelets and anticoagulants, which triggered researchers to investigate the genetic basis of this variability. Data from extensive pharmacogenetic studies pointed
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Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-02-08 Yuqing Liang, Christina L Gersch, Jennifer Lehman, N Lynn Henry, Karen Lisa Smith, James M Rae, Vered Stearns, Daniel L Hertz
Third-generation aromatase inhibitors (AI) are the standard treatment for patients with hormone receptor positive (HR+) breast cancer. While effective, AI can lead to severe adverse events, including AI-induced musculoskeletal syndrome (AIMSS). Genetic predictors of AIMSS have the potential to personalize AI treatment and improve outcomes. We attempted to replicate results from a previous genome-wide
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Pharmacogenomic allele coverage of genome-wide genotyping arrays: a comparative analysis. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-02-08 Courtney Lenz, Ankita Narang, Chad A Bousman
The use of genome-wide genotyping arrays in pharmacogenomics (PGx) research and clinical implementation applications is increasing but it is unclear which arrays are best suited for these applications. Here, we conduct a comparative coverage analysis of PGx alleles included on genome-wide genotyping arrays, with an emphasis on alleles in genes with PGx-based prescribing guidelines. Genomic manifest
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Common dihydropyrimidinase (DPYS) genetic variations do not predict fluoropyrimidine-related chemotherapy toxicity in a Canadian cohort. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2024-01-15 Samantha J Medwid, Jaymie L Mailloux, Theodore J Wigle, Richard B Kim
Known genetic variations in dihydropyrimidine dehydrogenase (gene name DPYD) do not fully predict patients at risk for severe fluoropyrimidine-associated chemotherapy toxicity. Dihydropyrimidinase (gene name DPYS), the second catabolic enzyme in fluoropyrimidine metabolism, has been noted as a potential determinant of variation in fluoropyrimidine metabolism and response. In this study, we genotyped
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Pharmacogenetics at scale in real-world bioresources: CYP2C19 and clopidogrel outcomes in UK Biobank. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-12-29 Khaled F Bedair, Blair Smith, Colin N A Palmer, Alex S F Doney, Ewan R Pearson
The impact of CYP2C19 genotype on clopidogrel outcomes is one of the most well established pharmacogenetic interactions, supported by robust evidence and recommended by the Food and Drug Administration and clinical pharmacogenetics implementation consortium. However, there is a scarcity of large-scale real-world data on the extent of this pharmacogenetic effect, and clinical testing for the CYP2C19
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Effect of CYP3A4*22, CYP3A5*3 and POR*28 genetic polymorphisms on calcineurin inhibitors dose requirements in early phase renal transplant patients. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-12-04 Abdel-Hameed Im Ebid, Dina A Ismail, Neama M Lotfy, Mohamed A Mahmoud, Magdy El-Sharkawy
This study aimed to investigate the combined effect of CYP3A5*3, CYP3A4*22, and POR*28 genetic polymorphisms on tacrolimus and cyclosporine dose requirements.
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Development of an ARMS multiplex real-time PCR assay for the detection of HLA-B*13:01 genotype by detecting highly specific SNPs. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-12-04 Hao Yao, Kaixuan Wang, Sihai Lu, Fang Cao, Penggao Dai
HLA-B*13:01 was strongly associated with Dapsone Hypersensitivity Syndrome (DHS). This study aimed to develop and validate a rapid and economical method for HLA-B*13:01 genotyping.
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Cytochrome P4503A4 gene polymorphisms guide safe sufentanil analgesic doses in pregnant Chinese mothers: a multicenter, randomized, prospective study. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-11-14 Xiangrong Shu, Yan Yan, Jingxian Yu, Liqun Chi
Sufentanil and ropivacaine when used as epidural anesthetics effectively reduce maternal pain during labor. From previous reports, rs2242480 single nucleotide polymorphisms (SNPs) can alter sufentanil metabolism, which affects analgesic efficacy.
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HDL-C and creatinine levels at 1 month are associated with patient 12-month survival rate after kidney transplantation. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-11-01 Haolin Teng, Xinyuan Hu, Niao Liu
Many factors affect the survival rate after kidney transplantation, including laboratory tests, medicine therapy and pharmacogenomics. Tacrolimus, mycophenolate mofetil and methylprednisolone were used as an immunosuppressive regimen after kidney transplantation. The primary goal of this study was to investigate the factors affecting the tacrolimus concentrations and mycophenolate mofetil area under
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Evaluation of ADRB2 and OATP2A1 genetic polymorphisms in Indian patients with primary open-angle glaucoma. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-11-01 Lakshminarayanan Gowtham, Nabanita Halder, Sundararajan Baskar Singh, Dewang Angmo, Rama Jayasundar, Tanuj Dada, Thirumurthy Velpandian
The emergence of adrenergic β2-receptor (ADRB2) blockers has revolutionized glaucoma treatment, while the discovery of prostaglandin analogs has further expanded therapeutic options. Organic anion transporting polypeptide 2A1 (OATP2A1/SLCO2A1) facilitates the corneal transport of topical prostaglandins into anterior segment of eye. Our study aims to elucidate the prevalence of genetic polymorphisms
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Pharmacogenetics of weight gain following switch from efavirenz- to integrase inhibitor-containing regimens. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-11-01 Kunling Wu, John Koethe, Todd Hulgan, Todd Brown, Sara H Bares, Katherine Tassiopoulos, Jordan E Lake, Michael Leonard, David C Samuels, Kristine Erlandson, David W Haas
Excessive weight gain affects some persons with HIV after switching to integrase strand transfer inhibitor (INSTI)-containing antiretroviral therapy (ART). We studied associations between CYP2B6 genotype and weight gain after ART switch among ACTG A5001 and A5322 participants.
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Pharmacogenetics to prevent hypersensitivity reactions to antiepileptic drugs: is testing performed when indicated? Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-10-13 Vy L Bui, Santiago Alvarez-Arango, James M Stevenson
Extensive scientific evidence consistently demonstrates the clinical validity and utility of HLA-B*15:02 pre-screening in averting severe cutaneous adverse reactions (SCARs), namely Stevens-Johnson syndrome and toxic epidermal necrolysis, associated with carbamazepine or oxcarbazepine usage. Current practice guidelines and drug labeling actively advocate for pharmacogenetic pre-screening before initiating
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Luteal phase stimulation in double ovarian stimulation cycles is not affected by the follicle-stimulating hormone (FSH) receptor genotype: double ovarian stimulation is beneficial independently of the genotype at position 680 of the follicle-stimulating hormone receptor. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-10-13 Mónica Hortal, Belén Lledo, Jose A Ortiz, Ana Fuentes, Cristina García-Ajofrín, Ruth Romero, Alba Cascales, Andrea Bernabeu, Rafael Bernabeu
To determine whether follicle-stimulating hormone receptor (FSHR) genotype influences the outcome of ovarian stimulation treatment in luteal phase.
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Genetic polymorphisms effect on cyclophosphamide's tolerability and clinical efficacy in Egyptian patients with lupus nephritis. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-08-24 Nermeen N Abuelsoud, Engy M El Khateeb
Many studies were conducted to determine the association between genetic polymorphisms in CYP2B6 c.516G>T and cyclophosphamide (CYC) efficacy or toxicity, no studies were focused on both clinical efficacy and toxicity of CYC. This study aimed to investigate the relationship between the CYP2B6 c.516G>T polymorphism (rs 3745274) and 17 different parameters related to CYC efficacy and tolerability in
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Implementation of upfront DPYD genotyping with a low-cost and high-throughput assay to guide fluoropyrimidine treatment in cancer patients. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-08-24 Manuela Pinheiro, Ana Peixoto, Patrícia Rocha, Catarina Santos, Carla Escudeiro, Isabel Veiga, Miguel Porto, Joana Guerra, Ana Barbosa, Carla Pinto, Patrícia Arinto, Adriana Resende, Manuel R Teixeira
Genetic variants in the dihydropyrimidine dehydrogenase (DPYD) gene are associated with reduced dihydropyrimidine dehydrogenase enzyme activity and can cause severe fluoropyrimidine-related toxicity. We assessed the frequency of the four most common and well-established DPYD variants associated with fluoropyrimidine toxicity and implemented a relatively low-cost and high-throughput genotyping assay
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Real-world pharmacogenetics of statin intolerance: effects of SLCO1B1, ABCG2, and CYP2C9 variants. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-07-24 K Ivar Lönnberg, Aleksi Tornio, Päivi Hirvensalo, Jenni Keskitalo, Anna-Liina Mustaniemi, Johanna I Kiiski, Anne M Filppula, Mikko Niemi
The association of SLCO1B1 c.521T>C with simvastatin-induced muscle toxicity is well characterized. However, different statins are subject to metabolism and transport also by other proteins exhibiting clinically meaningful genetic variation. Our aim was to investigate associations of SLCO1B1 c.521T>C with intolerance to atorvastatin, fluvastatin, pravastatin, rosuvastatin, or simvastatin, those of
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Pharmacogenetic interactions of efavirenz or rifampin and isoniazid with levonorgestrel emergency contraception during treatment of HIV or tuberculosis. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-06-12 Nana Agyemang, Kimberly K Scarsi, Paxton Baker, Laura M Smeaton, Anthony T Podany, Maxine Olefsky, Elizabeth Woolley, Elizabeth Barr, Michelle Pham, Sajeeda Mawlana, Khuanchai Supparatpinyo, Sivaporn Gatechompol, Emilia M Jalil, Luis Gadama, Sharlaa Badal-Faesen, Marije Van Schalkwyk, Cecelia Kayama, Pablo F Belaunzaran-Zamudio, Catherine Godfrey, Susan E Cohn, Rosie Mngqibisa, David W Haas
In AIDS Clinical Trials Group study A5375, a pharmacokinetic trial of levonorgestrel emergency contraception, double-dose levonorgestrel (3 mg, versus standard dose 1.5 mg) offset the induction effects of efavirenz or rifampin on plasma levonorgestrel exposure over 8 h post-dose (AUC0-8h). We characterized the pharmacogenetics of these interactions.
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Bone marrow mesenchymal stem cell-derived exosomes carrying E3 ubiquitin ligase ITCH attenuated cardiomyocyte apoptosis by mediating apoptosis signal-regulated kinase-1. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-06-08 Xuejun Li, Xuanyi Hu, Qiansu Chen, Tian Jiang
Bone marrow mesenchymal stem cell (BMSC)-derived exosomes have been verified to perform an effective role in treating acute myocardial infarction (MI). Herein, we aimed to investigate the role of BMSC-derived exosomes carrying itchy E3 ubiquitin ligase (ITCH) in MI and the underlying mechanism involved.
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N-acetyltransferase 2 haplotype modifies risks for both dyslipidemia and urinary bladder cancer. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-05-29 Kyung U Hong, David W Hein
A novel haplotype in N-acetyltransferase 2 (NAT2) composed of seven non-coding variants (rs1495741, rs4921913, rs4921914, rs4921915, rs146812806, rs35246381, and rs35570672) has been linked to dyslipidemia by multiple, independent genome-wide association studies. The haplotype is located approximately 14 kb downstream of NAT2-coding region (ch8:18,272,377-18,272,881; GRCh38/hg38) and represents a non-coding
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Mouse nerve growth factor suppresses neuronal apoptosis in valproic acid-induced autism spectrum disorder rats by regulating the phosphoinositide-3-kinase/serine/threonine kinase signaling pathway. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-05-02 Jie Jian, Li-Guo Li, Peng-Ju Zhao, Rui-Juan Zheng, Xian-Wen Dong, Yong-Hong Zhao, Bao-Qi Yin, Sheng Li, Hui Cheng, Hong-Lei Li, En-Yao Li
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by deficits in social communication and restrictive behaviors. Mouse nerve growth factor (mNGF), a neurotrophic factor, is critical for neuronal growth and survival, and the mNGF treatment is considered a promising therapy for neurodegeneration. In light of this, we aimed to evaluate the effect of mNGF on neurological
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Pharmacogenetics of tenofovir renal toxicity in HIV-positive Southern Africans Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-04-24 Somila Mateza, Yuki Bradford, Gary Maartens, Simiso Sokhela, Nomathemba C. Chandiwana, Willem D.F. Venter, Frank A. Post, Marylyn D. Ritchie, David W. Haas, Phumla Sinxadi
Objective Renal toxicity is more common with tenofovir disoproxil fumarate (TDF) than with tenofovir alafenamide fumarate (TAF). We investigated whether polymorphisms in genes relevant to tenofovir disposition affect renal toxicity among HIV-positive Southern Africans. Methods Genetic sub-study of adults was randomized to initiate TAF or TDF together with dolutegravir and emtricitabine. Outcomes
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Cisplatin-induced ototoxicity: a novel approach to an ancient problem. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-04-10 Nabil E Omar, Hazem Elewa
With the scarcity of pharmacological otoprotective agents against cisplatin-induced ototoxicity (CIO), researchers find themselves compelled to look at and navigate all possible strategies to identify ways to prevent CIO. One of these promising strategies is pharmacogenomic implementation. This strategy aims for identifying and detecting high-risk genetic variants to tailor cisplatin therapy to reach
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Pharmacogenetic impact of SLC22A1 gene variant rs628031 (G/A) in newly diagnosed Indian type 2 diabetes patients undergoing metformin monotherapy Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-04-01 Shalini Singh, Ashwin Kumar Shukla, Kauser Usman, Monisha Banerjee
Objectives Type 2 diabetes (T2D) imposes an enormous burden all over the world in both developed and developing countries. Inter-individual differences are attributed to polymorphisms in candidate genes resulting in altered absorption, transportation, distribution, and metabolism of oral antidiabetic drugs (OADs). Hence, the present study was undertaken to evaluate the pharmacogenetic impact of SLC22A1
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Impact of CYP3A5 genotype on de-novo LCP tacrolimus dosing and monitoring in kidney transplantation Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-04-01 Nikhil Rao, Taylor Carcella, Neha Patel, Felicia Bartlett, Maria Aurora Posadas, Michael Casey, Derek A. Dubay, David J. Taber
Objectives LCP tac has a recommended starting dose of 0.14 mg/kg/day in kidney transplant. The goal of this study was to assess the influence of CYP3A5 on perioperative LCP tac dosing and monitoring. Methods This was a prospective observational cohort study of adult kidney recipients receiving de-novo LCP tac. CYP3A5 genotype was measured and 90-day pharmacokinetic and clinical were assessed. Patients
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Associations between four polymorphisms of the SLCO1B1 and effectiveness of the statins: a meta-analysis Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-03-06 Hong Ha Nguyen, Cuc Thi Thu Nguyen, Tran Ngoc Phuong Mai, Phung Thanh Huong
Objective Statins are the first-choice therapy for dyslipidemia, but their effectiveness can be influenced by genetic polymorphisms. This study was conducted to assess the association of variants of the solute carrier anion transporter family 1B1 (SLCO1B1) gene, which encodes a transporter involving the hepatic clearance of the statins and their therapeutic efficacy. Method A systematic review was
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Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-03-06 Zinhle Cindi, Aida N. Kawuma, Gary Maartens, Yuki Bradford, Simiso Sokhela, Nomathemba Chandiwana, Willem D. Francois Venter, Roeland E. Wasmann, Paolo Denti, Lubbe Wiesner, Marylyn D. Ritchie, David W. Haas, Phumla Sinxadi
Background Tenofovir is a component of preferred combination antiretroviral therapy (ART) regimens in Africa. Few pharmacogenetic studies have been conducted on tenofovir exposure in Africa, where genetic diversity is greatest. Objective We characterized the pharmacogenetics of plasma tenofovir clearance in Southern Africans receiving tenofovir disoproxil fumarate (TDF) or tenofovir alafenamide (TAF)
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Association of the ACE and AGT gene polymorphisms with global disparities in COVID-19-related deaths Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-02-09 Yolande B. Saab, Zahi S. Nakad, Stephanie J. Mehanna
Objective The aim of the study was to investigate the gene polymorphisms of angiotensin-converting enzyme (ACE), angiotensinogen (AGT), and angiotensin type 1 receptor (AT1R) in association with coronavirus disease 2019 (COVID-19) mortality rates worldwide. Methods The prevalence of ACE I/D, AGT M235T, and AT1R A1166C alleles’ frequencies in different populations was assessed. Data on COVID-19-related
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Implementation of pharmacogenomics into inpatient general medicine Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-02-01 Thomas Chen, Peter H. O’Donnell, Merisa Middlestadt, Gregory W. Ruhnke, Keith Danahey, Xander M.R. van Wijk, Anish Choksi, Randall Knoebel, Seth Hartman, Kiang-Teck Jerry Yeo, Paula N. Friedman, Mark J. Ratain, Edith A. Nutescu, Kevin J. O’Leary, Minoli A. Perera, David O. Meltzer
Pharmacogenomics is a crucial piece of personalized medicine. Preemptive pharmacogenomic testing is only used sparsely in the inpatient setting and there are few models to date for fostering the adoption of pharmacogenomic treatment in the inpatient setting. We created a multi-institutional project in Chicago to enable the translation of pharmacogenomics into inpatient practice. We are reporting our
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A lifetime economic research of universal HLA-B*58:01 genotyping or febuxostat initiation therapy in Chinese gout patients with mild to moderate chronic kidney disease Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-02-01 Yuan Hong, Xichuang Chen, Zhiping Li, Xiaoyan Zhang, Cong Zhou, Yan Wang, Guangfei Wang, Wei Wu, Danli Zhou, Hai feng Li
Objective To evaluate Chinese long-term economic impact of universal human leukocyte antigen B (HLA-B)*58:01 genotyping-guided urate-lowering therapy or febuxostat initiation therapy for gout patients with mild to moderate chronic kidney disease (CKD) from perspective of healthcare system. Methods A Markov model embedded in a decision tree was structured including four mutually exclusive health states
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Pregnane X receptor gene variant rs7643645 and total mortality in subjects with nonalcoholic fatty liver disease Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-02-01 Aki J. Käräjämäki, Janne Hukkanen, Olavi Ukkola
Pregnane X receptor (PXR) gene variants rs7643645 and rs2461823 are reported to associate with clinically and histologically more severe liver injury in nonalcoholic fatty liver disease (NAFLD). It is known that the more progressive the NAFLD, the higher the hepatic and extra-hepatic mortality and morbidity. Thus, we investigated the total mortality in Finnish middle-aged ultrasonographically verified
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Impact of organic anion transporting polypeptide, P-glycoprotein, and breast cancer resistance protein transporters on observed tamoxifen and endoxifen concentration and adverse effects Pharmacogenet. Genom. (IF 2.6) Pub Date : 2023-01-01 Denise N. Keller, Samantha J. Medwid, Cameron D. Ross, Theodore J. Wigle, Richard B. Kim
Objective Drug transporters are important determinants of drug disposition and response. Tamoxifen is an antiestrogen for breast cancer therapy known for adverse drug reactions (ADRs). In this study, the involvement of OATP transporters in tamoxifen and endoxifen transport was studied in vitro while the impact of single nucleotide variation (SNV) in OATP and efflux transporters P-glycoprotein (ABCB1)
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MiRNA-139-3p inhibits malignant progression in urothelial carcinoma of the bladder via targeting KIF18B and inactivating Wnt/beta-catenin pathway. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-11-07 Wenbin Zhang, Zhihua Liu
Bladder cancer is a highly prevalent disease worldwide. We aimed to investigate the effect of miRNA/mRNA signaling on bladder urothelial carcinoma (BUC).
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Body weight changes and bipolar disorder: a molecular pathway analysis. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-10-26 Marco Calabró, Silvana Briuglia, Concetta Crisafulli, Antonio Drago
There is evidence suggesting a link between weight-related disorders and bipolar disorder (BD). The pathophysiology of the association includes psychological, social and psychotropic treatment-related variables, together with psychiatric comorbidity. Weight changes during BD may influence compliance to the treatment, quality of life and prognosis, and can modulate risk of death associated with, for
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Proximal tubular dysfunction related to tenofovir in people living with HIV/AIDS: a pharmacogenetic study. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-10-13 Rita De Cassia Albuquerque Soares, Paulo Sérgio Ramos De Araújo, Lucas André Cavalcanti Brandão, Antônio Victor Campos Coelho, Kledoaldo Lima, Heloisa Ramos Lacerda De Melo
The purpose of this case-control study was to verify the association between single nucleotide polymorphisms (SNPs) in genes encoding drug transporters related to tenofovir disoproxil fumarate (TDF) and proximal renal tubular dysfunction (PRTD), and the association between PRTD and clinical characteristics.
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Influence of ABCB1, CYP3A5 and CYP3A4 gene polymorphisms on prothrombin time and the residual equilibrium concentration of rivaroxaban in patients with non-valvular atrial fibrillation in real clinical practice. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-10-13 Dmitry Alekseevitch Sychev, Aleksey Vladimirovich Sokolov, Olga Vilorovna Reshetko, Vladimir Petrovich Fisenko, Igor Nikolaevich Sychev, Elena Anatolievna Grishina, Pavel Olegovich Bochkov, Roman Vladimirovich Shevchenko, Sherzod Pardaboevich Abdullaev, Natalia Pavlovna Denisenko, Dmitry Vladimirovich Ivashchenko, Zhannet Alimovna Sozaeva, Anastasia Alekseevna Kachanova
The study of ABCB1 and CYP3A4/3A5 gene polymorphism genes is promising in terms of their influence on prothrombin time variability, the residual equilibrium concentration of direct oral anticoagulants (DOACs) in patients with atrial fibrillation and the development of new personalized approaches to anticoagulation therapy in these patients. The aim of the study is to evaluate the effect of ABCB1 (rs1045642)
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Attitudes on pharmacogenomic results as secondary findings among medical geneticists Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-10-01 Meghan N. Bartos, Stuart A. Scott, Ethylin Wang Jabs, Hetanshi Naik
Objectives As evidence mounts supporting the utility of pharmacogenomic-guided medication management, incorporating pharmacogenomic genes into secondary finding results from sequencing panels is increasingly under consideration. We studied medical geneticists’ attitudes on receiving pharmacogenomic results as secondary finding. Methods Four focus groups with 16 medical geneticists total were conducted
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Association of ATP8B3 gene polymorphisms with aspirin-exacerbated respiratory disease in asthmatics Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-10-01 Jong-Uk Lee, Min Kyung Kim, Seung-lee Park, Da Jeong Bae, Hun Soo Chang, Choon-Sik Park, Jong Sook Park
Background: Aspirin-exacerbated respiratory disease (AERD), an asthma phenotype, often presents with severe manifestations and it remains widely underdiagnosed because of insufficient awareness of the relationship between the ingestion of nonsteroidal anti-inflammatory drugs, including acetylsalicylic acid (ASA), and asthma exacerbation. Our previous genome-wide association study demonstrated an association
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Influence of MDR1 gene polymorphism (2677G>T) on expression and function of P-glycoprotein at the blood-brain barrier: utilizing novel P-glycoprotein humanized mice with mutation Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-10-01 Yuki Yamasaki, Takashi Moriwaki, Seiryo Ogata, Shingo Ito, Sumio Ohtsuki, Genki Minegishi, Satoshi Abe, Yumi Ohta, Kanako Kazuki, Kaoru Kobayashi, Yasuhiro Kazuki
P-glycoprotein, the encoded product of the MDR1/ABCB1 gene in humans, is expressed in numerous tissues including brain capillary endothelial cells and restricts the distribution of xenobiotics into the brain as an efflux pump. Although a large number of single nucleotide polymorphisms in the MDR1 gene have been identified, the influence of the nonsynonymous 2677G>T/A single nucleotide polymorphism
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Association of anti-TNF-α treatment with gut microbiota of patients with ankylosing spondylitis Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-09-01 Qinghong Dai, Xuyang Xia, Chenjia He, Yupeng Huang, Yidan Chen, Yang Wu, Yuehong Chen, Qianqian Hou, Yang Shu, Wei Zhang, Heng Xu, Geng Yin, Qibing Xie
Objective Gut dysbiosis contributes to multiple autoimmune diseases, including ankylosing spondylitis, which is commonly treated with tumor necrosis factor (TNF)-α inhibitors (TNFis). Because host TNF-α levels are considered to interact with gut microbiota, we aimed to systematically investigate the microbiota profile of ankylosing spondylitis patients with anti-TNF-α-based treatment and identify
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Impact of cytochrome P450 2C19 polymorphisms on the clinical efficacy and safety of voriconazole: an update systematic review and meta-analysis Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-09-01 Ying Zhang, Xu Hao, Kelu Hou, Lei Hu, Jingyuan Shang, Shiyu He, Changqing Yang, Lin Huang, Yufei Feng
Objective To assess the impact of cytochrome P450 (CYP) 2C19 polymorphisms on the clinical efficacy and safety of voriconazole. Methods We systematically searched PubMed, EMBASE, CENTRAL, ClinicalTrials.gov, and three Chinese databases from their inception to 18 March 2021 using a predefined search algorithm to identify relevant studies. Studies that reported voriconazole-treated patients and information
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Investigation of pharmacologic interactions between omeprazole and tacrolimus in a membranous nephropathy patient with CYP3A5 nonexpresser: a case report Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-09-01 Yanli Li, Yi Liu, Zengxian Sun
Tacrolimus has been widely used in membranous nephropathy in recent years. The drug interactions of the coadministration of tacrolimus with omeprazole in CYP3A5 nonexpresser membranous nephropathy patients have not been demonstrated. Here, we report an idiopathic membranous nephropathy patient who was with CYP2C19*2/*2, CYP3A5*3/*3 (nonexpresser) and ABCB1 (3435 TT, 1236 computed tomography, 2677 TT)
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Genome-wide DNA methylation profile of peripheral blood lymphocytes from subjects with nonsteroidal anti-inflammatory drug-induced respiratory diseases Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-08-01 Jong-Uk Lee, Hun Soo Chang, Min Kyung Kim, Seung-lee Park, Jung Hyun Kim, Jong-Sook Park, Choon-Sik Park
Background Significant changes in CpG methylation have been identified in nasal polyps, which are the main targets of nonsteroidal anti-inflammatory drug-exacerbated respiratory disease (NERD); however, these polyps are composed of various cellular components. In the present study, whole-genome CpG methylation in peripheral blood lymphocytes (PBLs) was analyzed to define the epigenetic changes in
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Cancer genomic medicine in Japan and the roles of pharmacists Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-08-01 Tohru Aomori, Hiroomi Sakurai, Hiroshi Nishihara
Cancer genomic medicine (CGM) is a medical service that provides optimized treatment for each patient based on genes, biomarkers, environment, and lifestyle. In Japan, the approval of designed core hospitals for CGM started in 2017. In June 2019, two types of cancer gene panel tests became available in the national health insurance system, and CGM was socially implemented. While CGM is still in its
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Population genetic polymorphisms of pharmacogenes in Zimbabwe, a potential guide for the safe and efficacious use of medicines in people of African ancestry Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-07-01 Bianza T. Mbavha, Comfort R. Kanji, Nadina Stadler, Julia Stingl, Andrea Stanglmair, Catharina Scholl, William Wekwete, Collen Masimirembwa
Objective Pharmacogenomics (PGx) is a clinically significant factor in the safe and efficacious use of medicines. While PGx knowledge is abundant for other populations, there are scarce PGx data on African populations and is little knowledge on drug–gene interactions for medicines used to treat diseases common in Africa. The aim of this study was to use a custom-designed open array to genotype clinically
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Effect of CYP2C19 genetic variants on bleeding and major adverse cardiovascular events in a cohort of Arab patients undergoing percutaneous coronary intervention and stent implantation Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-07-01 Zainab Omer Ali, Loulia Bader, Shaaban Mohammed, Salaheddin Arafa, Abdulrahman Arabi, Larisa Cavallari, Taimour Langaee, Fatima Mraiche, Nasser Rizk, Ahmed Awaisu, Mohamed H. Shahin, Hazem Elewa
Introduction One-third of patients have clopidogrel resistance that may lead to major adverse cardiac events (MACEs). By contrast, it was found that some clopidogrel-treated patients have hyperresponsive platelets that are associated with higher bleeding risk. Several studies have shown that polymorphisms in the gene encoding the CYP2C19 contribute to the variability in response to clopidogrel. Data
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Proposals for a standardized procedure of validation of DNA extraction and allelic discrimination assays in pharmacogenomics according to ISO15189 requirements Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-07-01 Laurent Imbert, Jennifer Lagoutte-Renosi, Julien Wils, Fabien Lamoureux
Objectives In the era of quality management in clinical laboratories, method validation can be a challenge without appropriate guidelines, such as in the field of pharmacogenetics. The present work describes a method validation for DNA extraction and CYP3A5*3 genotyping, which would meet ISO15189:2012 requirements. Methods DNA extraction was performed using a QIAamp DSP DNA Blood kit, DNA purity
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Composite CYP3A phenotypes influence tacrolimus dose-adjusted concentration in lung transplant recipients Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-07-01 Michelle Liu, Ciara M. Shaver, Kelly A. Birdwell, Stephanie A. Heeney, Christian M. Shaffer, Sara L. Van Driest
Objectives Interpatient variability in tacrolimus pharmacokinetics is attributed to metabolism by cytochrome P-450 3A4/5 isoenzymes (encoded by CYP3A4 and CYP3A5). Guidelines for adjusting tacrolimus based on CYP3A5 test results are published; however, CYP3A4 variants also contribute to the variability in tacrolimus pharmacokinetics. The effects of composite phenotypes incorporating CYP3A5 and CYP3A4
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Influence of CYP2B6 and CYP3A4 polymorphisms on the virologic and immunologic responses of patients treated with efavirenz-containing regimen. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-06-22 Yaya Kassogue, Brehima Diakite, Mamoudou Maiga, Oumar Kassogue, Issa Konate, Kadidiatou Tamboura, Fousseyni Diarra, Zoumana Diarra, Mahamadou Karamoko Sawadogo, Yaya Goita, Sidi Boula Sissoko, Adama Seydou Sissoko, Nouhoum Guirou, Hind Dehbi, Sellama Nadifi, Sekou Bah, Cheick Bougadari Traore, Bakarou Kamate, Sounkalo Dao, Guimogo Dolo
The main objective of this study was to evaluate the effect of CYP2B6 and CYP3A4 polymorphisms on the virological and immunologic responses of HIV patients. A total of 153 HIV-positive patients were enlisted for the study.
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Pharmacogenetic analysis of canonical versus noncanonical pathway of NF-kB in Crohn's disease patients under anti-tumor necrosis factor-α treatment. Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-06-22 Eleana F Stavrou, Fani Chatzopoulou, Charalabos Antonatos, Panagiota Pappa, Eutychia Makridou, Konstantinos Oikonomou, Andreas Kapsoritakis, Petros S Potamianos, Konstantinos Karmiris, Charalambos Tzathas, Dimitris Chatzidimitriou, Ioannis S Vizirianakis, Yiannis Vasilopoulos
This study explores the potential of gene polymorphisms in the canonical and noncanonical NF-kB signaling pathway as a prediction biomarker of anti-tumor necrosis factor (TNF)α response in Crohn's patients.
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Identification of potential druggable targets of cell cycle with small-molecule inhibitors in oral squamous cell carcinoma Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-06-01 Xiaoyi Zhou, Wenke Jin, Yanmei Chen, Lingjuan Zhu, Anchun Mo, Qiang Xie
Oral squamous cell carcinoma (OSCC) is one of the most common malignant tumors worldwide and there are few crucial regulators and druggable targets for early diagnosis. Therefore, the identification of biomarkers for the early diagnosis and druggable targets of OSCC is imminent. In this study, we integrated gene set enrichment analysis, differential gene expression analysis based on the negative binomial
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Associations of CYP2C19 and F2R genetic polymorphisms with platelet reactivity in Chinese ischemic stroke patients receiving clopidogrel therapy Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-06-01 Suli Zhang, Jinhang Zhu, Hua Li, Fengzhen Li, Bin Zhu, Tao Li, Shuxin Fang, Shengying Qin
Objectives Genetic variation has been considered a major contributor to the high variability in the response to dual antiplatelet therapy in patients with acute ischemic stroke or transient ischemic attack. Recently, incidences of ischemic stroke are increasing rapidly in China. We aimed to evaluate the influence of potential determinants on the response of antiplatelet therapy and adverse events
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Two polymorphic gene loci associated with treprostinil dose in pulmonary arterial hypertension Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-06-01 Vasiliki Thomeas-McEwing, Mitchell A. Psotka, Eric R. Gamazon, Paula Friedman, Anuar Konkashbaev, Michiaki Kubo, Yusuke Nakamura, Mark J. Ratain, Raymond L. Benza, Nancy J. Cox, Mardi I. Gomberg-Maitland, Michael L. Maitland
Objective Prostacyclin infusion for pulmonary arterial hypertension (PAH) is an effective therapy with varied dosing requirements and clinical response. The major aim of this study was to determine new biologically-based predictors of prostacyclin treatment response heterogeneity. Methods Ninety-eight patients with hemodynamically defined PAH at two academic medical centers volunteered for registry
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Effects of CYP2C19, CYP2C9 and CYP3A4 gene polymorphisms on plasma voriconazole levels in Chinese pediatric patients Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-06-01 Xinghua Fan, Hong Zhang, Zhipeng Wen, Xiaoli Zheng, Yi Yang, Jihong Yang
Objectives Voriconazole is the most commonly used antifungal agent in clinical application. Previous studies suggested that voriconazole was extensively metabolized by CYP450 enzyme system, including CYP2C19, CYP2C9 and CYP3A4, which contributed to the individual variability of the pharmacokinetic process of voriconazole. This study aimed to investigate the effects of CYP2C19, CYP2C9 and CYP3A4 gene
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Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-06-01 Alec W.R. Langlois, Ahmed El-Boraie, Koya Fukunaga, Taisei Mushiroda, Michiaki Kubo, Caryn Lerman, Jo Knight, Steven E. Scherer, Meghan J. Chenoweth, Rachel F. Tyndale
Objectives We evaluated multiple genotyping/sequencing approaches in a homologous region of chromosome 19, and investigated associations of two common 3’-UTR CYP2A6 variants with activity in vivo. Methods Individuals (n = 1704) of European and African ancestry were phenotyped for the nicotine metabolite ratio (NMR), an index of CYP2A6 activity, and genotyped/sequenced using deep amplicon exon sequencing
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Incorporating G6PD genotyping to identify patients with G6PD deficiency Pharmacogenet. Genom. (IF 2.6) Pub Date : 2022-04-01 Sarah A. Morris, Kristine R. Crews, Randall T. Hayden, Clifford M. Takemoto, Wenjian Yang, Donald K. Baker, Ulrich Broeckel, Mary V. Relling, Cyrine E. Haidar
Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is a common X-linked enzyme disorder associated with hemolytic anemia after exposure to fava beans or certain medications. Activity testing is the gold standard for detecting G6PD deficiency; however, this test is affected by various hematologic parameters. Clinical G6PD genotyping is now included in pharmacogenetic arrays and clinical sequencing