[en] The paradigm "one drug fits all" or "one dose fits all" will soon be challenged by pharmacogenetics research and application. Drug response-efficacy or safety-depends on interindividual variability. The current clinical practice does not include genetic screening as a routine procedure and does not account for genetic variation. Patients with the same illness receive the same treatment, yielding different responses. Integrating pharmacogenomics in therapy would provide critical information about how a patient will respond to a certain drug. Worldwide, great efforts are being made to achieve a personalized therapy-based approach. Nevertheless, a global harmonized guideline is still needed. Plasma membrane proteins, like receptor tyrosine kinase (RTK) and G protein-coupled receptors (GPCRs), are ubiquitously expressed, being involved in a diverse array of physiopathological processes. Over 30% of drugs approved by the FDA target GPCRs, reflecting the importance of assessing the genetic variability among individuals who are treated with these drugs. Pharmacogenomics of transmembrane protein receptors is a dynamic field with profound implications for precision medicine. Understanding genetic variations in these receptors provides a framework for optimizing drug therapies, minimizing adverse reactions, and advancing the paradigm of personalized healthcare.
Disciplines :
Biochemistry, biophysics & molecular biology
Author, co-author :
Anghel, Sorina-Andreea ; Université de Liège - ULiège > Département de pharmacie > Chimie pharmaceutique ; Department of Physical and Colloidal Chemistry, Faculty of Pharmacy, University of Medicine and Pharmacy "Carol Davila", 6 Traian Vuia Str., 020956 Bucharest, Romania ; Department of Molecular Cell Biology, Institute of Biochemistry, Splaiul Independentei 296, 060031 Bucharest, Romania
Dinu-Pirvu, Cristina-Elena; Department of Physical and Colloidal Chemistry, Faculty of Pharmacy, University of Medicine and Pharmacy "Carol Davila", 6 Traian Vuia Str., 020956 Bucharest, Romania ; Innovative Therapeutic Structures Research and Development Centre (InnoTher), "Carol Davila" University of Medicine and Pharmacy, 020956 Bucharest, Romania
Costache, Mihaela-Andreea; Department of Physical and Colloidal Chemistry, Faculty of Pharmacy, University of Medicine and Pharmacy "Carol Davila", 6 Traian Vuia Str., 020956 Bucharest, Romania
Voiculescu, Ana Maria; Department of Physical and Colloidal Chemistry, Faculty of Pharmacy, University of Medicine and Pharmacy "Carol Davila", 6 Traian Vuia Str., 020956 Bucharest, Romania
Ghica, Mihaela Violeta ; Department of Physical and Colloidal Chemistry, Faculty of Pharmacy, University of Medicine and Pharmacy "Carol Davila", 6 Traian Vuia Str., 020956 Bucharest, Romania ; Innovative Therapeutic Structures Research and Development Centre (InnoTher), "Carol Davila" University of Medicine and Pharmacy, 020956 Bucharest, Romania
Anuța, Valentina ; Department of Physical and Colloidal Chemistry, Faculty of Pharmacy, University of Medicine and Pharmacy "Carol Davila", 6 Traian Vuia Str., 020956 Bucharest, Romania ; Innovative Therapeutic Structures Research and Development Centre (InnoTher), "Carol Davila" University of Medicine and Pharmacy, 020956 Bucharest, Romania
Popa, Lăcrămioara ; Department of Physical and Colloidal Chemistry, Faculty of Pharmacy, University of Medicine and Pharmacy "Carol Davila", 6 Traian Vuia Str., 020956 Bucharest, Romania ; Innovative Therapeutic Structures Research and Development Centre (InnoTher), "Carol Davila" University of Medicine and Pharmacy, 020956 Bucharest, Romania
Language :
English
Title :
Receptor Pharmacogenomics: Deciphering Genetic Influence on Drug Response.
Publication date :
29 August 2024
Journal title :
International Journal of Molecular Sciences
ISSN :
1661-6596
eISSN :
1422-0067
Publisher :
Multidisciplinary Digital Publishing Institute (MDPI), Switzerland
This scientific paper was financially supported by the \u201CCarol Davila\u201D University of Medicine and Pharmacy Bucharest through Contract No. CNFIS-FDI-2024-F-0570; Institutional Program Publish not Perish – 2024 and Institutional Development Fund
International Human Genome Sequencing Consortium, Finishing the euchromatic sequence of the human genome Nature 2004 431 931 945 10.1038/nature03001
Lu C. Ahmed R. Lamri A. Anand S.S. Use of race, ethnicity, and ancestry data in health research PLoS Glob. Public Health 2022 2 e0001060 10.1371/journal.pgph.0001060 36962630
Wang R.C. Wang Z. Precision Medicine: Disease Subtyping and Tailored Treatment Cancers 2023 15 3837 10.3390/cancers15153837 37568653
Hulsen T. Jamuar S.S. Moody A.R. Karnes J.H. Varga O. Hedensted S. Spreafico R. Hafler D.A. McKinney E.F. From Big Data to Precision Medicine Front. Med. 2019 6 34 10.3389/fmed.2019.00034
White C. Scott R. Paul C.L. Ackland S.P. Pharmacogenomics in the era of personalised medicine Med. J. Aust. 2022 217 510 513 10.5694/mja2.51759 36259142
US Food and Drug Administration Table of Pharmacogenetic Associations Available online: https://www.fda.gov/medical-devices/precision-medicine/table-pharmacogenetic-associations (accessed on 28 March 2024)
Klein T.E. Chang J.T. Cho M.K. Easton K.L. Fergerson R. Hewett M. Lin Z. Liu Y. Liu S. Oliver D.E. et al. Integrating genotype and phenotype information: An overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base Pharmacogenom. J. 2001 1 167 170 10.1038/sj.tpj.6500035
Whirl-Carrillo M. Huddart R. Gong L. Sangkuhl K. Thorn C.F. Whaley R. Klein T.E. An Evidence-Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine Clin. Pharmacol. Ther. 2021 110 563 572 10.1002/cpt.2350
Whirl-Carrillo M. McDonagh E.M. Hebert J.M. Gong L. Sangkuhl K. Thorn C.F. Altman R.B. Klein T.E. Pharmacogenomics knowledge for personalized medicine Clin. Pharmacol. Ther. 2012 92 414 417 10.1038/clpt.2012.96
Pritchard D. Patel J.N. Stephens L.E. McLeod H.L. Comparison of FDA Table of Pharmacogenetic Associations and Clinical Pharmacogenetics Implementation Consortium guidelines Am. J. Health Syst. Pharm. 2022 79 993 1005 10.1093/ajhp/zxac064
Rukov J.L. Vinther J. Shomron N. Pharmacogenomics genes show varying perceptibility to microRNA regulation Pharmacogenet. Genom. 2011 21 251 262 10.1097/FPC.0b013e3283438865
Rosenbaum D.M. Rasmussen S.G. Kobilka B.K. The structure and function of G-protein-coupled receptors Nature 2009 459 356 363 10.1038/nature08144 19458711
US Food and Drug Administration Table of Pharmacogenomic Biomarkers in Drug Labeling Available online: https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling (accessed on 28 March 2024)
Jimeno A. Hidalgo M. Pharmacogenomics of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors Biochim. Biophys. Acta 2006 1766 217 229 10.1016/j.bbcan.2006.08.008 17045403
Abou Diwan E. Zeitoun R.I. Abou Haidar L. Cascorbi I. Khoueiry Zgheib N. Implementation and obstacles of pharmacogenetics in clinical practice: An international survey Br. J. Clin. Pharmacol. 2019 85 2076 2088 10.1111/bcp.13999
He Y. Hoskins J.M. McLeod H.L. Copy number variants in pharmacogenetic genes Trends Mol. Med. 2011 17 244 251 10.1016/j.molmed.2011.01.007 21388883
Stein D. Kars M.E. Wu Y. Bayrak C.S. Stenson P.D. Cooper D.N. Schlessinger A. Itan Y. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set Genome Med. 2023 15 103 10.1186/s13073-023-01261-9 38037155
Roden D.M. McLeod H.L. Relling M.V. Williams M.S. Mensah G.A. Peterson J.F. Van Driest S.L. Pharmacogenomics Lancet 2019 394 521 532 10.1016/S0140-6736(19)31276-0 31395440
Zhou Y. Lauschke V.M. The genetic landscape of major drug metabolizing cytochrome P450 genes-an updated analysis of population-scale sequencing data Pharmacogenom. J. 2022 22 284 293 10.1038/s41397-022-00288-2
Pirmohamed M. Pharmacogenomics: Current status and future perspectives Nat. Rev. Genet. 2023 24 350 362 10.1038/s41576-022-00572-8
Ramirez-Bello J. Jimenez-Morales M. Functional implications of single nucleotide polymorphisms (SNPs) in protein-coding and non-coding RNA genes in multifactorial diseases Gac. Med. Mex. 2017 153 238 250
Tam V. Patel N. Turcotte M. Bosse Y. Pare G. Meyre D. Benefits and limitations of genome-wide association studies Nat. Rev. Genet. 2019 20 467 484 10.1038/s41576-019-0127-1
David S. A current guide to candidate gene association studies Trends Genet. 2021 37 1056 1059 10.1016/j.tig.2021.07.009 34400010
Hertz D.L. Arwood M.J. Stocco G. Singh S. Karnes J.H. Ramsey L.B. Planning and Conducting a Pharmacogenetics Association Study Clin. Pharmacol. Ther. 2021 110 688 701 10.1002/cpt.2270 33880756
Chan H.T. Chin Y.M. Low S.K. The Roles of Common Variation and Somatic Mutation in Cancer Pharmacogenomics Oncol. Ther. 2019 7 1 32 10.1007/s40487-018-0090-6
Duarte R.R.R. Brentani H. Powell T.R. Ditching candidate gene association studies: Lessons from psychiatric genetics Braz. J. Psychiatry 2021 43 342 344 10.1590/1516-4446-2020-1646 33624685
Group S.C. Link E. Parish S. Armitage J. Bowman L. Heath S. Matsuda F. Gut I. Lathrop M. Collins R. SLCO1B1 variants and statin-induced myopathy—A genomewide study N. Engl. J. Med. 2008 359 789 799 10.1056/NEJMoa0801936
Linskey D.W. Linskey D.C. McLeod H.L. Luzum J.A. The need to shift pharmacogenetic research from candidate gene to genome-wide association studies Pharmacogenomics 2021 22 1143 1150 10.2217/pgs-2021-0108 34608812
Qi T. Song L. Guo Y. Chen C. Yang J. From genetic associations to genes: Methods, applications, and challenges Trends Genet. 2024 40 642 667 10.1016/j.tig.2024.04.008
Giacomini K.M. Yee S.W. Mushiroda T. Weinshilboum R.M. Ratain M.J. Kubo M. Genome-wide association studies of drug response and toxicity: An opportunity for genome medicine Nat. Rev. Drug Discov. 2017 16 70 10.1038/nrd.2016.234
Shuldiner A.R. Relling M.V. Peterson J.F. Hicks J.K. Freimuth R.R. Sadee W. Pereira N.L. Roden D.M. Johnson J.A. Klein T.E. et al. The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Overcoming challenges of real-world implementation Clin. Pharmacol. Ther. 2013 94 207 210 10.1038/clpt.2013.59 23588301
Cavallari L.H. Lee C.R. Duarte J.D. Nutescu E.A. Weitzel K.W. Stouffer G.A. Johnson J.A. Implementation of inpatient models of pharmacogenetics programs Am. J. Health Syst. Pharm. 2016 73 1944 1954 10.2146/ajhp150946
van der Wouden C.H. Cambon-Thomsen A. Cecchin E. Cheung K.C. Davila-Fajardo C.L. Deneer V.H. Dolzan V. Ingelman-Sundberg M. Jonsson S. Karlsson M.O. et al. Implementing Pharmacogenomics in Europe: Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium Clin. Pharmacol. Ther. 2017 101 341 358 10.1002/cpt.602 28027596
Borobia A.M. Dapia I. Tong H.Y. Arias P. Munoz M. Tenorio J. Hernandez R. Garcia Garcia I. Gordo G. Ramirez E. et al. Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience over 3 Years Clin. Transl. Sci. 2018 11 189 199 10.1111/cts.12526 29193749
Wick J.A. Schmidlen T. Grande K. Moretz C. Ashcraft K. Green J. Moyer N. Blaxall B.C. Implementing comprehensive pharmacogenomics in a community hospital-associated primary care setting J. Am. Pharm. Assoc. 2023 63 188 192 10.1016/j.japh.2022.09.002 36243653
Munar M.Y. Singh H. Drug dosing adjustments in patients with chronic kidney disease Am. Fam. Phys. 2007 75 1487 1496
Gloy V. Schmitt A.M. Dublin P. Hirt J. Axfors C. Kuk H. Pereira T.V. Locher C. Caquelin L. Walter-Claudi M. et al. The evidence base of US Food and Drug Administration approvals of novel cancer therapies from 2000 to 2020 Int. J. Cancer 2023 152 2474 2484 10.1002/ijc.34473 36779785
Huddart R. Sangkuhl K. Whirl-Carrillo M. Klein T.E. Are Randomized Controlled Trials Necessary to Establish the Value of Implementing Pharmacogenomics in the Clinic? Clin. Pharmacol. Ther. 2019 106 284 286 10.1002/cpt.1420
Marrero R.J. Cicali E.J. Arwood M.J. Eddy E. DeRemer D. Ramnaraign B.H. Daily K.C. Jones D. Jr. Cook K.J. Cavallari L.H. et al. How to Transition from Single-Gene Pharmacogenetic Testing to Preemptive Panel-Based Testing: A Tutorial Clin. Pharmacol. Ther. 2020 108 557 565 10.1002/cpt.1912
Morris S.A. Alsaidi A.T. Verbyla A. Cruz A. Macfarlane C. Bauer J. Patel J.N. Cost Effectiveness of Pharmacogenetic Testing for Drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines: A Systematic Review Clin. Pharmacol. Ther. 2022 112 1318 1328 10.1002/cpt.2754
van der Wouden C.H. Marck H. Guchelaar H.J. Swen J.J. van den Hout W.B. Cost-Effectiveness of Pharmacogenomics-Guided Prescribing to Prevent Gene-Drug-Related Deaths: A Decision-Analytic Model Front. Pharmacol. 2022 13 918493 10.3389/fphar.2022.918493
Chenoweth M.J. Giacomini K.M. Pirmohamed M. Hill S.L. van Schaik R.H.N. Schwab M. Shuldiner A.R. Relling M.V. Tyndale R.F. Global Pharmacogenomics Within Precision Medicine: Challenges and Opportunities Clin. Pharmacol. Ther. 2020 107 57 61 10.1002/cpt.1664
US Food and Drug Administration Guidance for Industry Pharmacogenomic Data Submissions Available online: https://www.fda.gov/media/72420/download (accessed on 9 June 2024)
US Food and Drug Administration Guidance for Industry Clinical Pharmacogenomics: Premarket Evaluation in Early-Phase Clinical Studies and Recommendations for Labeling Available online: https://www.fda.gov/media/84923/download (accessed on 9 June 2024)
EMA: Guideline on the Use of Pharmacogenetic Methodologies in the Pharmacokinetic Evaluation of Medicinal Products Available online: https://www.ema.europa.eu/en/documents/scientific-guideline/guideline-use-pharmacogenetic-methodologies-pharmacokinetic-evaluation-medicinal-products_en.pdf (accessed on 9 June 2024)
Abdullah-Koolmees H. van Keulen A.M. Nijenhuis M. Deneer V.H.M. Pharmacogenetics Guidelines: Overview and Comparison of the DPWG, CPIC, CPNDS, and RNPGx Guidelines Front. Pharmacol. 2020 11 595219 10.3389/fphar.2020.595219
Chenchula S. Atal S. Uppugunduri C.R.S. A review of real-world evidence on preemptive pharmacogenomic testing for preventing adverse drug reactions: A reality for future health care Pharmacogenom. J. 2024 24 9 10.1038/s41397-024-00326-1
O’Donnell P.H. Bush A. Spitz J. Danahey K. Saner D. Das S. Cox N.J. Ratain M.J. The 1200 patients project: Creating a new medical model system for clinical implementation of pharmacogenomics Clin. Pharmacol. Ther. 2012 92 446 449 10.1038/clpt.2012.117 22929923
Gottesman O. Kuivaniemi H. Tromp G. Faucett W.A. Li R. Manolio T.A. Sanderson S.C. Kannry J. Zinberg R. Basford M.A. et al. The Electronic Medical Records and Genomics (eMERGE) Network: Past, present, and future Genet. Med. 2013 15 761 771 10.1038/gim.2013.72
Gottesman O. Scott S.A. Ellis S.B. Overby C.L. Ludtke A. Hulot J.S. Hall J. Chatani K. Myers K. Kannry J.L. et al. The CLIPMERGE PGx Program: Clinical implementation of personalized medicine through electronic health records and genomics-pharmacogenomics Clin. Pharmacol. Ther. 2013 94 214 217 10.1038/clpt.2013.72 23588317
Hoffman J.M. Haidar C.E. Wilkinson M.R. Crews K.R. Baker D.K. Kornegay N.M. Yang W. Pui C.H. Reiss U.M. Gaur A.H. et al. PG4KDS: A model for the clinical implementation of pre-emptive pharmacogenetics Am. J. Med. Genet. Part C Semin. Med. Genet. 2014 166C 45 55 10.1002/ajmg.c.31391 24619595
Norris M. Dalton R. Alam B. Eddy E. Nguyen K.A. Cavallari L.H. Sumfest J. Wiisanen K. Cicali E.J. Lessons from clinical implementation of a preemptive pharmacogenetic panel as part of a testing pilot program with an employer-sponsored medical plan Front. Genet. 2023 14 1249003 10.3389/fgene.2023.1249003
Luczak T.S. Schillo P.J. Renier C.M. Waring S.C. Friday B.B. Feasibility of preemptive pharmacogenetic testing in colorectal cancer patients within a community oncology setting J. Oncol. Pharm. Pract. 2022 28 842 849 10.1177/10781552211005529
Lteif C. Eddy E. Terrell J. Cavallari L.H. Malaty J. Duarte J.D. Feasibility of preemptive pharmacogenetic testing and improvement of medication treatment satisfaction among medically underserved patients Clin. Transl. Sci. 2024 17 e13692 10.1111/cts.13692
Maruf A.A. Bousman C.A. Approaches and hurdles of implementing pharmacogenetic testing in the psychiatric clinic PCN Rep. 2022 1 e26 10.1002/pcn5.26
Kabbani D. Akika R. Wahid A. Daly A.K. Cascorbi I. Zgheib N.K. Pharmacogenomics in practice: A review and implementation guide Front. Pharmacol. 2023 14 1189976 10.3389/fphar.2023.1189976 37274118
Luzum J.A. Petry N. Taylor A.K. Van Driest S.L. Dunnenberger H.M. Cavallari L.H. Moving Pharmacogenetics Into Practice: It’s All About the Evidence! Clin. Pharmacol. Ther. 2021 110 649 661 10.1002/cpt.2327 34101169
Karas Kuzelicki N. Prodan Zitnik I. Gurwitz D. Llerena A. Cascorbi I. Siest S. Simmaco M. Ansari M. Pazzagli M. Di Resta C. et al. Pharmacogenomics education in medical and pharmacy schools: Conclusions of a global survey Pharmacogenomics 2019 20 643 657 10.2217/pgs-2019-0009
Zhang M. Chen T. Lu X. Lan X. Chen Z. Lu S. G protein-coupled receptors (GPCRs): Advances in structures, mechanisms, and drug discovery Signal Transduct. Target. Ther. 2024 9 88 10.1038/s41392-024-01803-6
Hauser A.S. Attwood M.M. Rask-Andersen M. Schioth H.B. Gloriam D.E. Trends in GPCR drug discovery: New agents, targets and indications Nat. Rev. Drug Discov. 2017 16 829 842 10.1038/nrd.2017.178 29075003
Hilger D. Masureel M. Kobilka B.K. Structure and dynamics of GPCR signaling complexes Nat. Struct. Mol. Biol. 2018 25 4 12 10.1038/s41594-017-0011-7
Jean-Charles P.Y. Kaur S. Shenoy S.K. G Protein-Coupled Receptor Signaling Through beta-Arrestin-Dependent Mechanisms J. Cardiovasc. Pharmacol. 2017 70 142 158 10.1097/FJC.0000000000000482 28328745
Grundmann M. Merten N. Malfacini D. Inoue A. Preis P. Simon K. Ruttiger N. Ziegler N. Benkel T. Schmitt N.K. et al. Lack of beta-arrestin signaling in the absence of active G proteins Nat. Commun. 2018 9 341 10.1038/s41467-017-02661-3
Dryja T.P. McGee T.L. Reichel E. Hahn L.B. Cowley G.S. Yandell D.W. Sandberg M.A. Berson E.L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa Nature 1990 343 364 366 10.1038/343364a0 2137202
Guarnieri V. Canaff L. Yun F.H. Scillitani A. Battista C. Muscarella L.A. Wong B.Y. Notarangelo A. D’Agruma L. Sacco M. et al. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: Studies from a single endocrine clinic over three years J. Clin. Endocrinol. Metab. 2010 95 1819 1829 10.1210/jc.2008-2430
Spanakis E. Milord E. Gragnoli C. AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance J. Cell. Physiol. 2008 217 605 617 10.1002/jcp.21552 18726898
Luo J. Sun P. Siwko S. Liu M. Xiao J. The role of GPCRs in bone diseases and dysfunctions Bone Res. 2019 7 19 10.1038/s41413-019-0059-6
Liu T. Ji R.L. Tao Y.X. Naturally occurring mutations in G protein-coupled receptors associated with obesity and type 2 diabetes mellitus Pharmacol. Ther. 2022 234 108044 10.1016/j.pharmthera.2021.108044
Fukami M. Suzuki E. Igarashi M. Miyado M. Ogata T. Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders Clin. Endocrinol. 2018 88 351 359 10.1111/cen.13496
Yang L.K. Hou Z.S. Tao Y.X. Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases Biochim. Biophys. Acta Mol. Basis Dis. 2021 1867 165973 10.1016/j.bbadis.2020.165973
Hauser A.S. Chavali S. Masuho I. Jahn L.J. Martemyanov K.A. Gloriam D.E. Babu M.M. Pharmacogenomics of GPCR Drug Targets Cell 2018 172 41 54.e19 10.1016/j.cell.2017.11.033
Basith S. Cui M. Macalino S.J.Y. Park J. Clavio N.A.B. Kang S. Choi S. Exploring G Protein-Coupled Receptors (GPCRs) Ligand Space via Cheminformatics Approaches: Impact on Rational Drug Design Front. Pharmacol. 2018 9 128 10.3389/fphar.2018.00128
Edward Zhou X. Melcher K. Eric Xu H. Structural biology of G protein-coupled receptor signaling complexes Protein Sci. 2019 28 487 501 10.1002/pro.3526
Schoneberg T. Liebscher I. Mutations in G Protein-Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approaches Pharmacol. Rev. 2021 73 89 119 10.1124/pharmrev.120.000011
Fuentes A.V. Pineda M.D. Venkata K.C.N. Comprehension of Top 200 Prescribed Drugs in the US as a Resource for Pharmacy Teaching, Training and Practice Pharmacy 2018 6 43 10.3390/pharmacy6020043
Johnson J.A. Zineh I. Puckett B.J. McGorray S.P. Yarandi H.N. Pauly D.F. Beta 1-adrenergic receptor polymorphisms and antihypertensive response to metoprolol Clin. Pharmacol. Ther. 2003 74 44 52 10.1016/S0009-9236(03)00068-7
Si D. Wang J. Xu Y. Chen X. Zhang M. Zhou H. Association of common polymorphisms in beta1-adrenergic receptor with antihypertensive response to carvedilol J. Cardiovasc. Pharmacol. 2014 64 306 309 10.1097/FJC.0000000000000119
Fayed M.S. Saleh M.A. Sabri N.A. Elkholy A.A. beta1-adrenergic receptor polymorphisms: A possible genetic predictor of bisoprolol response in acute coronary syndrome Future Sci. OA 2023 9 FSO895 10.2144/fsoa-2023-0113
Magvanjav O. McDonough C.W. Gong Y. McClure L.A. Talbert R.L. Horenstein R.B. Shuldiner A.R. Benavente O.R. Mitchell B.D. Johnson J.A. et al. Pharmacogenetic Associations of beta1-Adrenergic Receptor Polymorphisms With Cardiovascular Outcomes in the SPS3 Trial (Secondary Prevention of Small Subcortical Strokes) Stroke 2017 48 1337 1343 10.1161/STROKEAHA.116.015936
Turner S. Francis B. Vijverberg S. Pino-Yanes M. Maitland-van der Zee A.H. Basu K. Bignell L. Mukhopadhyay S. Tavendale R. Palmer C. et al. Childhood asthma exacerbations and the Arg16 beta2-receptor polymorphism: A meta-analysis stratified by treatment J. Allergy Clin. Immunol. 2016 138 107 113.e105 10.1016/j.jaci.2015.10.045 26774659
Bandaru S. Alvala M. Nayarisseri A. Sharda S. Goud H. Mundluru H.P. Singh S.K. Molecular dynamic simulations reveal suboptimal binding of salbutamol in T164I variant of beta2 adrenergic receptor PLoS ONE 2017 12 e0186666 10.1371/journal.pone.0186666
Yang Y.Y. Lin H.C. Lee W.P. Chu C.J. Lin M.W. Lee F.Y. Hou M.C. Jap J.S. Lee S.D. Association of the G-protein and alpha2-adrenergic receptor gene and plasma norepinephrine level with clonidine improvement of the effects of diuretics in patients with cirrhosis with refractory ascites: A randomised clinical trial Gut 2010 59 1545 1553 10.1136/gut.2010.210732
Bond C. LaForge K.S. Tian M. Melia D. Zhang S. Borg L. Gong J. Schluger J. Strong J.A. Leal S.M. et al. Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: Possible implications for opiate addiction Proc. Natl. Acad. Sci. USA 1998 95 9608 9613 10.1073/pnas.95.16.9608
Mura E. Govoni S. Racchi M. Carossa V. Ranzani G.N. Allegri M. van Schaik R.H. Consequences of the 118A>G polymorphism in the OPRM1 gene: Translation from bench to bedside? J. Pain Res. 2013 6 331 353 10.2147/JPR.S42040
Knapman A. Santiago M. Connor M. Buprenorphine signalling is compromised at the N40D polymorphism of the human mu opioid receptor in vitro Br. J. Pharmacol. 2014 171 4273 4288 10.1111/bph.12785
Zhang J.P. Lencz T. Malhotra A.K. D2 receptor genetic variation and clinical response to antipsychotic drug treatment: A meta-analysis Am. J. Psychiatry 2010 167 763 772 10.1176/appi.ajp.2009.09040598 20194480
Ma L. Zhang X. Xiang Q. Zhou S. Zhao N. Xie Q. Zhao X. Zhou Y. Cui Y. Association between dopamine receptor gene polymorphisms and effects of risperidone treatment: A systematic review and meta-analysis Basic Clin. Pharmacol. Toxicol. 2019 124 94 104 10.1111/bcpt.13111 30103286
Lencz T. Robinson D.G. Napolitano B. Sevy S. Kane J.M. Goldman D. Malhotra A.K. DRD2 promoter region variation predicts antipsychotic-induced weight gain in first episode schizophrenia Pharmacogenet. Genom. 2010 20 569 572 10.1097/FPC.0b013e32833ca24b
Bosia M. Lorenzi C. Pirovano A. Guglielmino C. Cocchi F. Spangaro M. Bramanti P. Smeraldi E. Cavallaro R. COMT Val158Met and 5-HT1A-R -1019 C/G polymorphisms: Effects on the negative symptom response to clozapine Pharmacogenomics 2015 16 35 44 10.2217/pgs.14.150
Hong C.J. Chen T.J. Yu Y.W. Tsai S.J. Response to fluoxetine and serotonin 1A receptor (C-1019G) polymorphism in Taiwan Chinese major depressive disorder Pharmacogenom. J. 2006 6 27 33 10.1038/sj.tpj.6500340 16302021
Kato M. Fukuda T. Wakeno M. Okugawa G. Takekita Y. Watanabe S. Yamashita M. Hosoi Y. Azuma J. Kinoshita T. et al. Effect of 5-HT1A gene polymorphisms on antidepressant response in major depressive disorder Am. J. Med. Genet. Part B Neuropsychiatr. Genet. 2009 150B 115 123 10.1002/ajmg.b.30783
Lopez-Rodriguez R. Cabaleiro T. Ochoa D. Roman M. Borobia A.M. Carcas A.J. Ayuso C. Novalbos J. Abad-Santos F. Pharmacodynamic genetic variants related to antipsychotic adverse reactions in healthy volunteers Pharmacogenomics 2013 14 1203 1214 10.2217/pgs.13.106
Sanguesa E. Fernandez-Egea E. Concha J. Garcia C.B. Ribate M.P. Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia Biomedicines 2024 12 597 10.3390/biomedicines12030597
Blasi G. Selvaggi P. Fazio L. Antonucci L.A. Taurisano P. Masellis R. Romano R. Mancini M. Zhang F. Caforio G. et al. Variation in Dopamine D2 and Serotonin 5-HT2A Receptor Genes is Associated with Working Memory Processing and Response to Treatment with Antipsychotics Neuropsychopharmacology 2015 40 1600 1608 10.1038/npp.2015.5
Basu A. Chadda R.K. Sood M. Kaur H. Kukreti R. Association of serotonin transporter (SLC6A4) and receptor (5HTR1A, 5HTR2A) polymorphisms with response to treatment with escitalopram in patients with major depressive disorder: A preliminary study Indian J. Med. Res. 2015 142 40 45 10.4103/0971-5916.162094
Horstmann S. Lucae S. Menke A. Hennings J.M. Ising M. Roeske D. Muller-Myhsok B. Holsboer F. Binder E.B. Polymorphisms in GRIK4, HTR2A, and FKBP5 show interactive effects in predicting remission to antidepressant treatment Neuropsychopharmacology 2010 35 727 740 10.1038/npp.2009.180
Wu Y. Zeng L. Zhao S. Ligands of Adrenergic Receptors: A Structural Point of View Biomolecules 2021 11 936 10.3390/biom11070936
Zhang F. Steinberg S.F. S49G and R389G polymorphisms of the beta(1)-adrenergic receptor influence signaling via the cAMP-PKA and ERK pathways Physiol. Genom. 2013 45 1186 1192 10.1152/physiolgenomics.00087.2013
Parvez B. Chopra N. Rowan S. Vaglio J.C. Muhammad R. Roden D.M. Darbar D. A common beta1-adrenergic receptor polymorphism predicts favorable response to rate-control therapy in atrial fibrillation J. Am. Coll. Cardiol. 2012 59 49 56 10.1016/j.jacc.2011.08.061
Pacanowski M.A. Gong Y. Cooper-Dehoff R.M. Schork N.J. Shriver M.D. Langaee T.Y. Pepine C.J. Johnson J.A. Investigators I. beta-adrenergic receptor gene polymorphisms and beta-blocker treatment outcomes in hypertension Clin. Pharmacol. Ther. 2008 84 715 721 10.1038/clpt.2008.139
Sobczak M. Salaga M. Storr M.A. Fichna J. Physiology, signaling, and pharmacology of opioid receptors and their ligands in the gastrointestinal tract: Current concepts and future perspectives J. Gastroenterol. 2014 49 24 45 10.1007/s00535-013-0753-x
Halikere A. Popova D. Scarnati M.S. Hamod A. Swerdel M.R. Moore J.C. Tischfield J.A. Hart R.P. Pang Z.P. Addiction associated N40D mu-opioid receptor variant modulates synaptic function in human neurons Mol. Psychiatry 2020 25 1406 1419 10.1038/s41380-019-0507-0
Taqi M.M. Faisal M. Zaman H. OPRM1 A118G Polymorphisms and Its Role in Opioid Addiction: Implication on Severity and Treatment Approaches Pharmacogenom. Pers. Med. 2019 12 361 368 10.2147/PGPM.S198654 31819591
Kusumi I. Boku S. Takahashi Y. Psychopharmacology of atypical antipsychotic drugs: From the receptor binding profile to neuroprotection and neurogenesis Psychiatry Clin. Neurosci. 2015 69 243 258 10.1111/pcn.12242
Pan Y. Yao J. Wang B. Association of dopamine D1 receptor gene polymorphism with schizophrenia: A meta-analysis Neuropsychiatr. Dis. Treat. 2014 10 1133 1139 10.2147/NDT.S63776 25018632
Potkin S.G. Basile V.S. Jin Y. Masellis M. Badri F. Keator D. Wu J.C. Alva G. Carreon D.T. Bunney W.E. Jr. et al. D1 receptor alleles predict PET metabolic correlates of clinical response to clozapine Mol. Psychiatry 2003 8 109 113 10.1038/sj.mp.4001191 12556915
Ota V.K. Spindola L.N. Gadelha A. dos Santos Filho A.F. Santoro M.L. Christofolini D.M. Bellucco F.T. Ribeiro-dos-Santos A.K. Santos S. Mari Jde J. et al. DRD1 rs4532 polymorphism: A potential pharmacogenomic marker for treatment response to antipsychotic drugs Schizophr. Res. 2012 142 206 208 10.1016/j.schres.2012.08.003
de Matos L.P. Santana C.V. Souza R.P. Meta-analysis of dopamine receptor D1 rs4532 polymorphism and susceptibility to antipsychotic treatment response Psychiatry Res. 2015 229 586 588 10.1016/j.psychres.2015.07.054 26213377
Shen Y.C. Chen S.F. Chen C.H. Lin C.C. Chen S.J. Chen Y.J. Luu S.U. Effects of DRD2/ANKK1 gene variations and clinical factors on aripiprazole efficacy in schizophrenic patients J. Psychiatr. Res. 2009 43 600 606 10.1016/j.jpsychires.2008.09.005 18926547
Zhang J.P. Robinson D.G. Gallego J.A. John M. Yu J. Addington J. Tohen M. Kane J.M. Malhotra A.K. Lencz T. Association of a Schizophrenia Risk Variant at the DRD2 Locus With Antipsychotic Treatment Response in First-Episode Psychosis Schizophr. Bull. 2015 41 1248 1255 10.1093/schbul/sbv116 26320194
Magistrelli L. Ferrari M. Furgiuele A. Milner A.V. Contaldi E. Comi C. Cosentino M. Marino F. Polymorphisms of Dopamine Receptor Genes and Parkinson’s Disease: Clinical Relevance and Future Perspectives Int. J. Mol. Sci. 2021 22 3781 10.3390/ijms22073781
Zhou W. Xu Y. Lv Q. Sheng Y.H. Chen L. Li M. Shen L. Huai C. Yi Z. Cui D. et al. Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients Front. Pharmacol. 2019 10 177 10.3389/fphar.2019.00177
Naveen M. Patil A.N. Pattanaik S. Kaur A. Banerjee D. Grover S. ABCB1 and DRD3 polymorphism as a response predicting biomarker and tool for pharmacogenetically guided clozapine dosing in Asian Indian treatment resistant schizophrenia patients Asian J. Psychiatr. 2020 48 101918 10.1016/j.ajp.2019.101918
Zhou W. Chang W. Yan Y. Shen L. Li W. Yi Z. Qin S. Pharmacogenetics analysis of serotonin receptor gene variants and clinical response to risperidone in Han Chinese schizophrenic patients Neurosci. Lett. 2018 683 202 206 10.1016/j.neulet.2018.08.002
Gupta M. Jain S. Moily N.S. Kaur H. Jajodia A. Purushottam M. Kukreti R. Genetic studies indicate a potential target 5-HTR(3B) for drug therapy in schizophrenia patients Am. J. Med. Genet. B Neuropsychiatr. Genet. 2012 159b 1006 1008 10.1002/ajmg.b.32105
Melkersson K.I. Gunes A. Dahl M.L. Impact of serotonin receptor 2A gene haplotypes on C-peptide levels in clozapine- and olanzapine-treated patients Hum. Psychopharmacol. 2010 25 347 352 10.1002/hup.1114
Edinoff A.N. Akuly H.A. Hanna T.A. Ochoa C.O. Patti S.J. Ghaffar Y.A. Kaye A.D. Viswanath O. Urits I. Boyer A.G. et al. Selective Serotonin Reuptake Inhibitors and Adverse Effects: A Narrative Review Neurol. Int. 2021 13 387 401 10.3390/neurolint13030038
Commons K.G. Linnros S.E. Delayed Antidepressant Efficacy and the Desensitization Hypothesis ACS Chem. Neurosci. 2019 10 3048 3052 10.1021/acschemneuro.8b00698
Chauhan M. Parry R. Bobo W.V. Vilazodone for Major Depression in Adults: Pharmacological Profile and an Updated Review for Clinical Practice Neuropsychiatr. Dis. Treat. 2022 18 1175 1193 10.2147/NDT.S279342 35726313
Zhao X. Huang Y. Li J. Ma H. Jin Q. Wang Y. Wu L. Zhu G. Association between the 5-HT1A receptor gene polymorphism (rs6295) and antidepressants: A meta-analysis Int. Clin. Psychopharmacol. 2012 27 314 320 10.1097/YIC.0b013e32835818bf 22890315
Dong Z.Q. Li X.R. He L. He G. Yu T. Sun X.L. 5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients Neuropsychiatr. Dis. Treat. 2016 12 1623 1629 10.2147/NDT.S93562
Scutt G. Overall A. Scott R. Patel B. Hachoumi L. Yeoman M. Wright J. Does the 5-HT(1A) rs6295 polymorphism influence the safety and efficacy of citalopram therapy in the oldest old? Ther. Adv. Drug Saf. 2018 9 355 366 10.1177/2042098618770620 30034777
Bousman C.A. Stevenson J.M. Ramsey L.B. Sangkuhl K. Hicks J.K. Strawn J.R. Singh A.B. Ruano G. Mueller D.J. Tsermpini E.E. et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants Clin. Pharmacol. Ther. 2023 114 51 68 10.1002/cpt.2903
Wan Y.-S. Zhai X.-J. Tan H.-A. Ai Y.-S. Zhao L.-B. Associations between the 1438A/G, 102T/C, and rs7997012G/A polymorphisms of HTR2A and the safety and efficacy of antidepressants in depression: A meta-analysis Pharmacogenom. J. 2021 21 200 215 10.1038/s41397-020-00197-2
Lin J.Y. Jiang M.Y. Kan Z.M. Chu Y. Influence of 5-HTR2A genetic polymorphisms on the efficacy of antidepressants in the treatment of major depressive disorder: A meta-analysis J. Affect. Disord. 2014 168 430 438 10.1016/j.jad.2014.06.012
Zhao X. Sun L. Sun Y.H. Ren C. Chen J. Wu Z.Q. Jiang Y.H. Lv X.L. Association of HTR2A T102C and A-1438G polymorphisms with susceptibility to major depressive disorder: A meta-analysis Neurol. Sci. 2014 35 1857 1866 10.1007/s10072-014-1970-7 25270656
Yuan R. Yuan F. Ren D. Zhu Y. Bi Y. Hu J. Guo Z. Xu F. Niu W. Wu X. et al. HTR1A and HTR2A variants may not predict venlafaxine treatment response in China Han population with major depressive disorder Psychiatry Res. 2018 270 1179 1180 10.1016/j.psychres.2018.10.038 30366640
Mitsudomi T. Yatabe Y. Epidermal growth factor receptor in relation to tumor development: EGFR gene and cancer FEBS J. 2010 277 301 308 10.1111/j.1742-4658.2009.07448.x 19922469
Borgeaud M. Parikh K. Banna G.L. Kim F. Olivier T. Le X. Addeo A. Unveiling the Landscape of Uncommon EGFR Mutations in NSCLC-A Systematic Review J. Thorac. Oncol. 2024 19 973 983 10.1016/j.jtho.2024.03.016 38499147
Bai Y. Liu X. Zheng L. Wang S. Zhang J. Xiong S. Zhang P. Jiao Z. Zhao G. Zhou C. et al. Comprehensive profiling of EGFR mutation subtypes reveals genomic-clinical associations in non-small-cell lung cancer patients on first-generation EGFR inhibitors Neoplasia 2023 38 100888 10.1016/j.neo.2023.100888
Zehir A. Benayed R. Shah R.H. Syed A. Middha S. Kim H.R. Srinivasan P. Gao J. Chakravarty D. Devlin S.M. et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients Nat. Med. 2017 23 703 713 10.1038/nm.4333
Wee P. Wang Z. Epidermal Growth Factor Receptor Cell Proliferation Signaling Pathways Cancers 2017 9 52 10.3390/cancers9050052
Arkhipov A. Shan Y. Das R. Endres N.F. Eastwood M.P. Wemmer D.E. Kuriyan J. Shaw D.E. Architecture and membrane interactions of the EGF receptor Cell 2013 152 557 569 10.1016/j.cell.2012.12.030
Lynch T.J. Bell D.W. Sordella R. Gurubhagavatula S. Okimoto R.A. Brannigan B.W. Harris P.L. Haserlat S.M. Supko J.G. Haluska F.G. et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib N. Engl. J. Med. 2004 350 2129 2139 10.1056/NEJMoa040938
Amelia T. Kartasasmita R.E. Ohwada T. Tjahjono D.H. Structural Insight and Development of EGFR Tyrosine Kinase Inhibitors Molecules 2022 27 819 10.3390/molecules27030819
Thomas R. Weihua Z. Rethink of EGFR in Cancer With Its Kinase Independent Function on Board Front. Oncol. 2019 9 800 10.3389/fonc.2019.00800 31508364
Uribe M.L. Marrocco I. Yarden Y. EGFR in Cancer: Signaling Mechanisms, Drugs, and Acquired Resistance Cancers 2021 13 2748 10.3390/cancers13112748 34206026
Generali D. Leek R. Fox S.B. Moore J.W. Taylor C. Chambers P. Harris A.L. EGFR mutations in exons 18–21 in sporadic breast cancer Ann. Oncol. 2007 18 203 205 10.1093/annonc/mdl322
Metzger B. Chambeau L. Begon D.Y. Faber C. Kayser J. Berchem G. Pauly M. Boniver J. Delvenne P. Dicato M. et al. The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain BMC Med. Genet. 2011 12 144 10.1186/1471-2350-12-144 22026926
Castaneda-Gonzalez J.P. Chaves J.J. Parra-Medina R. Multiple mutations in the EGFR gene in lung cancer: A systematic review Transl. Lung Cancer Res. 2022 11 2148 2163 10.21037/tlcr-22-235
Abourehab M.A.S. Alqahtani A.M. Youssif B.G.M. Gouda A.M. Globally Approved EGFR Inhibitors: Insights into Their Syntheses, Target Kinases, Biological Activities, Receptor Interactions, and Metabolism Molecules 2021 26 6677 10.3390/molecules26216677
Nagasaka M. Zhu V.W. Lim S.M. Greco M. Wu F. Ou S.I. Beyond Osimertinib: The Development of Third-Generation EGFR Tyrosine Kinase Inhibitors For Advanced EGFR+ NSCLC J. Thorac. Oncol. 2021 16 740 763 10.1016/j.jtho.2020.11.028
Hanley M.J. Camidge D.R. Fram R.J. Gupta N. Mobocertinib: Mechanism of action, clinical, and translational science Clin. Transl. Sci. 2024 17 e13766 10.1111/cts.13766
Cai W.Q. Zeng L.S. Wang L.F. Wang Y.Y. Cheng J.T. Zhang Y. Han Z.W. Zhou Y. Huang S.L. Wang X.W. et al. The Latest Battles Between EGFR Monoclonal Antibodies and Resistant Tumor Cells Front. Oncol. 2020 10 1249 10.3389/fonc.2020.01249
PharmGKB Database EGFR. Clinical Annotations Available online: https://www.pharmgkb.org (accessed on 20 June 2024)
Costa D.B. Kinase inhibitor-responsive genotypes in EGFR mutated lung adenocarcinomas: Moving past common point mutations or indels into uncommon kinase domain duplications and rearrangements Transl. Lung Cancer Res. 2016 5 331 337 10.21037/tlcr.2016.06.04
Yasuda H. Park E. Yun C.H. Sng N.J. Lucena-Araujo A.R. Yeo W.L. Huberman M.S. Cohen D.W. Nakayama S. Ishioka K. et al. Structural, biochemical, and clinical characterization of epidermal growth factor receptor (EGFR) exon 20 insertion mutations in lung cancer Sci. Transl. Med. 2013 5 216ra177 10.1126/scitranslmed.3007205
Castellanos E. Feld E. Horn L. Driven by Mutations: The Predictive Value of Mutation Subtype in EGFR-Mutated Non-Small Cell Lung Cancer J. Thorac. Oncol. 2017 12 612 623 10.1016/j.jtho.2016.12.014 28017789
Oliveira-Cunha M. Newman W.G. Siriwardena A.K. Epidermal growth factor receptor in pancreatic cancer Cancers 2011 3 1513 1526 10.3390/cancers3021513 24212772
Ma X. Liu X. Ou K. Zhang M. Gao L. Yang L. Advanced pancreatic cancer with KRAS wild-type and EGFR-sensitive mutation respond favorably to furmonertinib: A case report Front. Oncol. 2023 13 1151178 10.3389/fonc.2023.1151178
Mody J. Kamgar M. Pancreatic Adenocarcinoma with Co-Occurrence of KRAS and EGFR Mutations: Case Report and Literature Review Case Rep. Oncol. 2024 17 399 406 10.1159/000536552 38435447
Doleschal B. Petzer A. Rumpold H. Current concepts of anti-EGFR targeting in metastatic colorectal cancer Front. Oncol. 2022 12 1048166 10.3389/fonc.2022.1048166
Garcia-Foncillas J. Sunakawa Y. Aderka D. Wainberg Z. Ronga P. Witzler P. Stintzing S. Distinguishing Features of Cetuximab and Panitumumab in Colorectal Cancer and Other Solid Tumors Front. Oncol. 2019 9 849 10.3389/fonc.2019.00849 31616627
Taberna M. Oliva M. Mesia R. Cetuximab-Containing Combinations in Locally Advanced and Recurrent or Metastatic Head and Neck Squamous Cell Carcinoma Front. Oncol. 2019 9 383 10.3389/fonc.2019.00383
Rehmani H.S. Issaeva N. EGFR in head and neck squamous cell carcinoma: Exploring possibilities of novel drug combinations Ann. Transl. Med. 2020 8 813 10.21037/atm.2020.04.07
Gadgeel S.M. Chen W. Cote M.L. Bollig-Fischer A. Land S. Schwartz A.G. Bepler G. Fibroblast growth factor receptor 1 amplification in non-small cell lung cancer by quantitative real-time PCR PLoS ONE 2013 8 e79820 10.1371/journal.pone.0079820 24255716
Vouri M. Croucher D.R. Kennedy S.P. An Q. Pilkington G.J. Hafizi S. Axl-EGFR receptor tyrosine kinase hetero-interaction provides EGFR with access to pro-invasive signalling in cancer cells Oncogenesis 2016 5 e266 10.1038/oncsis.2016.66 27775700
Ma Y. Tang N. Thompson R.C. Mobley B.C. Clark S.W. Sarkaria J.N. Wang J. InsR/IGF1R Pathway Mediates Resistance to EGFR Inhibitors in Glioblastoma Clin. Cancer Res. 2016 22 1767 1776 10.1158/1078-0432.CCR-15-1677 26561558