Review
Pharmacology & Pharmacy
Zaiwei Song, Yang Hu, Shuang Liu, Dan Jiang, Zhanmiao Yi, Mason M. Benjamin, Rongsheng Zhao
Summary: This systematic review investigated the genetic association of gene variants within the HDMTX pathway and their impact on clinical outcomes. Certain SNPs were found to be significantly associated with increased risk of HDMTX toxicity, while others showed a tendency towards decreased toxicity. Additional studies with larger sample sizes are needed to further explore the genetic influences on treatment outcomes.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Oncology
David A. Bush, Michael Volk, Jason C. Smith, Mark E. Reeves, Samrat Sanghvi, Jerry D. Slater, Michael deVera
Summary: This study compares survival rates, recurrence patterns, toxicity, and treatment cost in patients with hepatocellular carcinoma (HCC) treated with either transarterial chemoembolization (TACE) or proton beam radiotherapy (PBT). The results show that PBT and TACE have similar overall survival rates for HCC treatment, but PBT has better progression-free survival and local control. Patients treated with PBT require fewer treatment courses, fewer hospitalization days, and lower treatment costs compared to TACE.
Review
Biochemistry & Molecular Biology
Emilio Berna-Rico, Javier Perez-Bootello, Carlota Abbad-Jaime de Arago, Alvaro Gonzalez-Cantero
Summary: Psoriasis is a chronic inflammatory disease with a genetic background. Genetic variations in HLA-Cw*06 allele and genes related to inflammation and keratinocyte proliferation have been associated with disease development. This review assessed the evidence on how these genetic variations may affect the response to psoriasis treatment. Variations in VDR gene may influence topical vitamin D and phototherapy response, while variations in ABC transporter genes are associated with methotrexate and cyclosporine outcomes. Multiple single-nucleotide polymorphisms related to anti-TNF-α response modulation show conflicting results. HLA-Cw*06 has been extensively studied and related to ustekinumab response. Further research is needed to establish the usefulness of these genetic biomarkers in clinical practice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Pharmacology & Pharmacy
Paula Soria-Chacartegui, Gonzalo Villapalos-Garcia, Pablo Zubiaur, Francisco Abad-Santos, Dora Koller
Summary: Olanzapine, aripiprazole, and risperidone are widely used for schizophrenia treatment and can induce various adverse drug reactions. The metabolism and individual genetic polymorphisms of these drugs affect pharmacokinetics and drug responses, necessitating consideration of patient genotypes and potential drug interactions during treatment.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Pharmacology & Pharmacy
Anita Stojanovic Markovic, Matea Zajc Petranovic, Tatjana Skaric-Juric, Zeljka Celinscak, Maja Setinc, Zeljka Tomas, Marijana Pericic Salihovic
Summary: Human genetic diversity is likely a significant factor in the variability of complex features. The CYP2D6 gene, which encodes an enzyme involved in drug metabolism, exhibits high levels of polymorphism. Analysis of 86 SNPs in the CYP2D6 gene across different populations revealed differences in haplotype and nucleotide diversity, with African populations exhibiting the highest diversity. A principal component analysis showed distinct clustering of African, Asian, and European populations based on CYP2D6 haplotypes.
Review
Pharmacology & Pharmacy
Evangelia Eirini Tsermpini, Sara Redensek, Vita Dolzan
Summary: This article reviews the impact of genetic variations on the occurrence of tardive dyskinesia (TD) in experimental animal models and clinical studies. Eight genes have been identified from preclinical findings that have also reached statistical significance in at least one clinical study. However, the results of clinical studies are often conflicting and not conclusive enough to support their implementation in clinical practice.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Pharmacology & Pharmacy
Rocio Nunez-Torres, Guillermo Pita, Maria Pena-Chilet, Daniel Lopez-Lopez, Jorge Zamora, Gema Roldan, Belen Herraez, Nuria Alvarez, Maria Rosario Alonso, Joaquin Dopazo, Anna Gonzalez-Neira
Summary: The implementation of pharmacogenetics (PGx) is a significant milestone for achieving safer and more effective therapies in precision medicine. However, the adoption of PGx diagnostics is slow and unequal worldwide, partly due to the lack of ethnic-specific PGx information. Genetic data from 3006 Spanish individuals were analyzed, revealing allele frequencies and putative deleterious variants for main PGx genes. A comparison of high-throughput diagnostic techniques indicated that genotyping with the PGx HT array is the most suitable solution. The integrated information is made available through the Collaborative Spanish Variant Server for the scientific community.
Article
Oncology
Andrea Urtasun, Gladys G. Olivera, Luis Sendra, Salvador F. Alino, Pablo Berlanga, Pablo Gargallo, David Hervas, Julia Balaguer, Antonio Juan-Ribelles, Maria del Mar Andres, Adela Canete, Maria Jose Herrero
Summary: Cancer is the leading cause of death in pediatric populations, and this study aims to identify genetic variants that impact treatment safety and efficacy. 64 infant patients were genotyped, and associations were found between genetic variants and survival and hematological toxicity. Personalized medicine based on these findings could improve response and tolerance to chemotherapy.
Review
Pharmacology & Pharmacy
Tingyu Wang, Yitian Zhou, Guosheng Cao
Summary: This study examined the relationship between genetic variants and tamoxifen-induced individual drug reactions in different Asian populations, revealing significant inter-ethnic differences in allele frequencies. The most common genotype correlated with adverse clinical outcomes was found to be CYP2D6 *10/*10. Despite the barriers and controversies surrounding implementing pharmacogenetics in Asian populations, more population-specific pharmacogenetic studies are needed in the future.
EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
(2021)
Article
Clinical Neurology
Vianney Poinsignon, Romain Colle, Khalil El Asmar, Indira Mendez-David, Denis J. David, Abd El Kader Ait Tayeb, Kenneth Chappell, Florence Gressier, Hugo Herrero, Bruno Feve, Laurent Becquemont, Emmanuelle Corruble, Celine Verstuyft
Summary: The study assessed the association between the HTR4 genetic polymorphism rs1345697 and improvement in depressive symptoms and remission after antidepressant treatment in MDE patients. Results indicated that GG homozygous patients had lower improvements in depressive symptoms and 2-fold lower remission rates compared to allele A carriers.
JOURNAL OF AFFECTIVE DISORDERS
(2022)
Article
Pharmacology & Pharmacy
Paula Soria-Chacartegui, Gonzalo Villapalos-Garcia, Luis A. Lopez-Fernandez, Marcos Navares-Gomez, Gina Mejia-Abril, Francisco Abad-Santos, Pablo Zubiaur
Summary: DPYD gene polymorphism can help predict toxicity in cancer patients treated with fluoropyrimidines, but its current predictive capacity is limited due to unknown mutations affecting enzyme function. Variant rs367619008, rs200643089, and rs76387818 were found to increase the percentage of explained toxicities, while further studies are needed to confirm the clinical relevance of variant rs944174134.
Article
Respiratory System
Maria Joana Catarata, Margarida Lourenco, Maria Fatima Martins, Joao Frade, Alice Pego, Carlos Robalo Cordeiro, Rui Medeiros, Ricardo Ribeiro
Summary: The genetic variant AGXT rs34116584 is associated with a shorter progression free survival (PFS) and overall survival (OS) in patients with non-small cell lung cancer (NSCLC), particularly in those treated with platinum-based chemotherapy. This polymorphism may serve as a pharmacogenetic predictor of response to chemotherapy in NSCLC patients.
Article
Oncology
Ankan Bandyopadhyay, Siddharth Sharma, Digambar Behera, Navneet Singh
Summary: The study aimed to assess the prevalence of UGT1A1 polymorphisms and their association with clinical outcomes in North Indian patients with SCLC on CPT11-CTx. Results showed that UGT1A1*6 and UGT1A1*28 polymorphisms were associated with increased gastrointestinal toxicity and improved overall survival, respectively.
Article
Biochemistry & Molecular Biology
Jordi Olloquequi, Patricia Castro-Santos, Roberto Diaz-Pena
Summary: Latin-American populations have been underrepresented in genomic studies of drug response and disease susceptibility. This study compared the frequency of gene variants involved in drug response among a Chilean population and others using the 1000 Genomes Project data. Several gene variants were found to have low prevalence in Chileans compared to other populations, and two markers showed significant differences between different Mapuche ancestry groups. These findings emphasize the importance of considering ancestry in pharmacogenetic studies and provide a pharmacogenetic landscape of an understudied Latin American population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pharmacology & Pharmacy
Alyson L. Dickson, Laura L. Daniel, Jacy Zanussi, W. Dale Plummer, Wei-Qi Wei, Ge Liu, Tyler Reese, Prathima Anandi, Kelly A. Birdwell, Vivian Kawai, Nancy J. Cox, William D. Dupont, Adriana M. Hung, QiPing Feng, C. Michael Stein, Cecilia P. Chung
Summary: The study suggests that TPMT and NUDT15 metabolizer status can predict the risk of discontinuing azathioprine due to myelotoxicity in patients with inflammatory diseases.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2022)
Article
Oncology
Julia C. F. Quintanilha, Jin Wang, Alexander B. Sibley, Wei Xu, Osvaldo Espin-Garcia, Chen Jiang, Amy S. Etheridge, Mark J. Ratain, Heinz-Josef Lenz, Monica Bertagnolli, Hedy L. Kindler, Maura N. Dickler, Alan Venook, Geoffrey Liu, Kouros Owzar, Danyu Lin, Federico Innocenti
Summary: This study identified potential genes and SNPs associated with cancer patient survival, including PRUNE2, BARD1, and AGAP1. Bevacizumab was found to improve overall survival in advanced cancer patients, but there are currently no biomarkers available to identify patients who would benefit from bevacizumab.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Audiology & Speech-Language Pathology
Yu-fang Rao, Jing Wang, Dan-ni Cheng, Yang Xu, Xue Ren, Wen Yang, Geoffrey Liu, Wei Xu, Xiao-hong Yan, Yao Song, Yong-bo Zheng, Ping An, Da-lin Zhong, Zhao-ping He, Jian-jun Ren, Yu Zhao
Summary: The baseline expression levels of PGA/pepsin A gene and protein were detected in multiple tissues and body fluid, but the commercially available antibodies had poor sensitivity and specificity, making them unreliable for diagnosing extra-gastroesophageal reflux.
Article
Clinical Neurology
Annemarie C. Eggen, Nadine M. Richard, Ingeborg Bosma, Mathilde Jalving, Natasha B. Leighl, Geoffrey Liu, Kenneth Mah, Randa Higazy, David B. Shultz, Anna K. L. Reyners, Gary Rodin, Kim Edelstein
Summary: This study found that both cognitive impairment and cognitive concerns are common in patients with mNSCLC, but they are not necessarily related and have different risk factors. The association of illness intrusiveness and self-esteem with cognitive concerns can inform therapeutic interventions in this population.
NEURO-ONCOLOGY PRACTICE
(2022)
Article
Medicine, General & Internal
Mark Gormley, Tom Dudding, Linda Kachuri, Kimberley Burrows, Amanda H. W. Chong, Richard M. Martin, Steven J. Thomas, Jessica Tyrrell, Andrew R. Ness, Paul Brennan, Marcus R. Munafo, Miranda Pring, Stefania Boccia, Andrew F. Olshan, Brenda Diergaarde, Rayjean J. Hung, Geoffrey Liu, Eloiza H. Tajara, Patricia Severino, Tatiana N. Toporcov, Martin Lacko, Tim Waterboer, Nicole Brenner, George Davey Smith, Emma E. Vincent, Rebecca C. Richmond
Summary: Evidence from the study suggests that genetic variants related to sexual behavior traits may have correlated pleiotropy, highlighting the importance of multivariable approaches and evidence triangulation in Mendelian randomization studies of complex behavioral traits.
Article
Oncology
Jianjun Ren, Wendu Pang, Katrina Hueniken, Ghazal Haddad, Andrew Hope, Shao Hui Huang, Anna Spreafico, Aaron R. Hansen, Bayardo Perez-Ordonez, David P. Goldstein, Scott Bratman, Wei Zhang, Yu Zhao, Wei Xu, John R. de Almeida, Geoffrey Liu
Summary: This study revealed that long-term health utility and symptom-toxicity trajectories of head and neck cancer patients are influenced by tumor subsite, clinicodemographic factors, and treatment modalities, partly due to their relationships with symptoms/toxicities.
Article
Oncology
Sabine Schmid, Mei Jiang, M. Catherine Brown, Aline Fares, Miguel Garcia, Joelle Soriano, Mei Dong, Sera Thomas, Takashi Kohno, Leticia Ferro Leal, Nancy Diao, Juntao Xie, Zhichao Wang, David Zaridze, Ivana Holcatova, Jolanta Lissowska, Beata Swiatkowska, Dana Mates, Milan Savic, Angela S. Wenzlaff, Curtis C. Harris, Neil E. Caporaso, Hongxia Ma, Guillermo Fernandez-Tardon, Matthew J. Barnett, Gary Goodman, Michael P. A. Davies, Monica Perez-Rios, Fiona Taylor, Eric J. Duell, Ben Schoettker, Hermann Brenner, Angeline Andrew, Angela Cox, Alberto Ruano-Ravina, John K. Field, Loic Le Marchand, Ying Wang, Chu Chen, Adonina Tardon, Sanjay Shete, Matthew B. Schabath, Hongbing Shen, Maria Teresa Landi, Brid M. Ryan, Ann G. Schwartz, Lihong Qi, Lori C. Sakoda, Paul Brennan, Ping Yang, Jie Zhang, David C. Christiani, Rui Manuel Reis, Kouya Shiraishi, Rayjean J. Hung, Wei Xu, Geoffrey Liu
Summary: This study developed and tested pragmatic approaches to account for the missing EGFR-mutation-status in epidemiologic datasets of non-small cell lung cancers (NSCLC). By developing a regression model and using restriction and imputation methods, the study successfully evaluated the clinical impact of EGFR-status on NSCLC.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2022)
Article
Allergy
Jianjun Ren, Wendu Pang, Yaxin Luo, Danni Cheng, Ke Qiu, Yufang Rao, Yongbo Zheng, Yijun Dong, Jiajia Peng, Yao Hu, Zhiye Ying, Haopeng Yu, Xiaoxi Zeng, Zhiyong Zong, Geoffrey Liu, Deyun Wang, Gang Wang, Wei Zhang, Wei Xu, Yu Zhao
Summary: Allergic rhinitis (AR) and asthma may act as protective factors against COVID-19 infection, while asthma increases the risk of hospitalization. However, long-term medication for AR and/or asthma does not have a significant association with COVID-19 outcomes.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2022)
Letter
Clinical Neurology
Sara Alnajjar, Juan Fco. Idiaquez Rios, Davood Fathi, Geoffrey Liu, Vera Bril
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Gastroenterology & Hepatology
Julia Schroeder, Laura Chegwidden, Carlo Maj, Jan Gehlen, Jan Speller, Anne C. Boehmer, Oleg Borisov, Timo Hess, Nicole Kreuser, Marino Venerito, Hakan Alakus, Andrea May, Christian Gerges, Thomas Schmidt, Rene Thieme, Dominik Heider, Axel M. Hillmer, Julian Reingruber, Orestis Lyros, Arne Dietrich, Albrecht Hoffmeister, Matthias Mehdorn, Florian Lordick, Gertraud Stocker, Michael Hohaus, Daniel Reim, Jennis Kandler, Michaela Mueller, Alanna Ebigbo, Claudia Fuchs, Christiane J. Bruns, Arnulf H. Holscher, Hauke Lang, Peter P. Grimminger, Dani Dakkak, Yogesh Vashist, Sandra May, Siegfried Gorg, Andre Franke, David Ellinghaus, Sara Galavotti, Lothar Veits, Josef Weismuller, Jens Dommermuth, Udo Benner, Thomas Roesch, Helmut Messmann, Brigitte Schumacher, Horst Neuhaus, Carsten Schmidt, Thaddaus T. Wissinowski, Markus M. Noethen, Jing Dong, Jue-Sheng Ong, Matthew F. Buas, Aaron P. Thrift, Thomas L. Vaughan, Ian Tomlinson, David C. Whiteman, Rebecca Claire Fitzgerald, Janusz Jankowski, Michael Vieth, Andreas Mayr, Puya Gharahkhani, Stuart MacGregor, Ines Gockel, Claire Palles, Johannes Schumacher
Summary: This study utilized GWAS, genetic correlation analysis, and polygenic risk modeling to investigate the genetic causes of BE/EA. The findings identified new risk loci and candidate genes associated with BE/EA development. The study also revealed differences in the etiology of BE and EA and demonstrated improved risk prediction models when combining PRS with risk factors. These findings provide valuable insights into the mechanisms underlying BE/EA and improve our understanding of the disease.
Article
Oncology
Jiahui Zhang, Weili Kong, Pingzhao Hu, Derek Jonker, Malcolm Moore, Jolie Ringash, Jeremy Shapiro, John Zalcberg, John Simes, Dongsheng Tu, Chris J. O'Callaghan, Geoffrey Liu, Wei Xu
Summary: This study applied GMM to analyze longitudinal QoL data from the CO.20 clinical trial, identifying different patient subpopulations and finding significant differences in clinical outcomes among these subpopulations.
Article
Otorhinolaryngology
Christopher W. Noel, Katrina Hueniken, David Forner, Geoffrey Liu, Lawson Eng, Ali Hosni, Ezra Hahn, Jonathan C. Irish, Ralph Gilbert, Christopher M. K. L. Yao, Eric Monteiro, Brian O'Sullivan, John Waldron, Shao Hui Huang, David P. Goldstein, John R. de Almeida
Summary: This study examines the association between socioeconomic status and survival in head and neck cancer patients using patient-level data. The results suggest that lower household income is associated with worse financial toxicity, health status, and disease-free survival among these patients.
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY
(2023)
Letter
Oncology
Miguel Garcia-Pardo, Geoffrey Liu
JOURNAL OF THORACIC ONCOLOGY
(2023)
Article
Medicine, General & Internal
Siow Ming Lee, Christian Schulz, Kumar Prabhash, Dariusz Kowalski, Aleksandra Szczesna, Baohui Han, Achim Rittmeyer, Toby Talbot, David Vicente, Raffaele Califano, Diego Cortinovis, Anh Tuan Le, Dingzhi Huang, Geoffrey Liu, Federico Cappuzzo, Jessica Reyes Contreras, Martin Reck, Ramon Palmero, Milena Perez Mak, Youyou Hu, Stefanie Morris, Elen Hoeglander, Mary Connors, Alice M. Biggane, Hans Kristian Vollan, Solange Peters
Summary: First-line atezolizumab monotherapy is more effective and safer than single-agent chemotherapy for patients with NSCLC who are ineligible for platinum-based chemotherapy.
Review
Oncology
Joshua C. Rosen, Adrian Sacher, Ming-Sound Tsao
Summary: KRAS(G12C) inhibitors have shown promising results in clinical trials with overall response rates ranging between 32% and 46%, and have been granted FDA approvals as second-line or later monotherapies. However, rapid tumor resistance complicates their use as a monotherapy.
THERAPEUTIC ADVANCES IN MEDICAL ONCOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Aline F. Fares, Yao Li, Mei Jiang, M. Catherine Brown, Andrew C. L. Lam, Reenika Aggarwal, Sabine Schmid, Natasha B. Leighl, Frances A. Shepherd, Zhichao Wang, Nancy Diao, Angela S. Wenzlaff, Juntao Xie, Takashi Kohno, Neil E. Caporaso, Curtis Harris, Hongxia Ma, Matthew J. Barnett, Leticia Ferro Leal, G. Fernandez-Tardon, Manica Perez-Rios, Michael P. A. Davies, Fiona Taylor, Ben Schoettker, Paul Brennan, David Zaridze, Ivana Holcatova, Jolanta Lissowska, Beata Swiatkowska, Dana Mates, Milan Savic, Hermann Brenner, Angeline Andrew, Angela Cox, John K. Field, Alberto Ruano-Ravina, Sanjay S. Shete, Adonina Tardon, Ying Wang, Loic Le Marchand, Rui Manuel Reis, Matthew B. Schabath, Chu Chen, Hongbing Shen, Brid M. Ryan, Maria Teresa Landi, Kouya Shiraishi, Jie Zhang, Ann G. Schwartz, Ming S. Tsao, David C. Christiani, Ping Yang, Rayjean J. Hung, Wei Xu, Geoffrey Liu
Summary: This large-scale study conducted in multiple countries and regions worldwide found that the duration of smoking abstinence is associated with overall survival in patients with NSCLC, even when diagnosed at a later lung-cancer screening visit.
LANCET PUBLIC HEALTH
(2023)
