CorrectRx Literature
The studies below summarize the clinical evidence supporting the pharmacogenomic markers included in CorrectRx. Each reference links genetic variation to medication response, metabolism, or safety to support informed prescribing decisions.
ABCB1
Reference
PMID
DOI
Link to Original Article
Leschziner GD, Andrew T, Pirmohamed M, Johnson MR. ABCB1 genotype and PGP expression, function and therapeutic drug response: a critical review and recommendations for future research. Pharmacogenomics J. 2007 Jun;7(3):154-79.
16969364
10.1038/sj.tpj.6500413
Campa D, Gioia A, Tomei A, Poli P, Barale R. Association of ABCB1/MDR1 and OPRM1 gene polymorphisms with morphine pain relief. Clin Pharmacol Ther. 2008 Apr;83(4):559-66.
17898703
10.1038/sj.clpt.6100385
Hung CC, Chang WL, Ho JL, Tai JJ, Hsieh TJ, Huang HC, Hsieh YW, Liou HH. Association of polymorphisms in EPHX1, UGT2B7, ABCB1, ABCC2, SCN1A and SCN2A genes with carbamazepine therapy optimization. Pharmacogenomics. 2012 Jan;13(2):159-69.
22188362
10.2217/pgs.11.141
Aszalos A. Drug-drug interactions affected by the transporter protein, P-glycoprotein (ABCB1, MDR1) II. Clinical aspects. Drug Discov Today. 2007 Oct;12(19-20):838-43.
17933685
10.1016/j.drudis.2007.07.021
Borst P, Elferink RO. Mammalian ABC transporters in health and disease. Annu Rev Biochem. 2002;71:537-92.
12045106
10.1146/annurev.biochem.71.102301.093055
Vaalburg W, Hendrikse NH, Elsinga PH, Bart J, van Waarde A. P-glycoprotein activity and biological response. Toxicol Appl Pharmacol. 2005 Sep 1;207(2 Suppl):257-60.
16043202
10.1016/j.taap.2005.03.027
ABCG2
Reference
PMID
DOI
Link to Original Article
Lehtisalo M, Taskinen S, Tarkiainen EK, et al. A comprehensive pharmacogenomic study indicates roles for SLCO1B1, ABCG2 and SLCO2B1 in rosuvastatin pharmacokinetics. Br J Clin Pharmacol. 2023 Jan;89(1):242-252.
35942816
10.1111/bcp.15485
ADRA2A
Reference
PMID
DOI
Link to Original Article
Polanczyk G, Zeni C, Genro JP, et al. Association of the Adrenergic α2A Receptor Gene With Methylphenidate Improvement of Inattentive Symptoms in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder. Arch Gen Psychiatry. 2007;64(2):218–224.
17283289
10.1001/archpsyc.64.2.218
Lorem ipsum dolor sit amet, consectetur adipiscing elit. Ut elit tellus, luctus nec ullamcorper mattis, pulvinar dapibus leo.
Roden, D. M., Johnson, J. A., Kimmel, S. E., Krauss, R. M., Medina, M. W., Shuldiner, A., & Wilke, R. A. (2011). Cardiovascular pharmacogenomics. Circulation research, 109(7), 807–820.
21921273
10.1161/CIRCRESAHA.110.230995
Duarte, J. D., Thomas, C. D., Lee, C. R., Huddart, R., Agundez, J. A. G., Baye, J. F., Gaedigk, A., Klein, T. E., Lanfear, D. E., Monte, A. A., Nagy, M., Schwab, M., Stein, C. M., Uppugunduri, C. R. S., van Schaik, R. H. N., Donnelly, R. S., Caudle, K. E., & Luzum, J. A. (2024). Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, and GRK5 Genotypes and Beta-Blocker Therapy. Clinical pharmacology and therapeutics, 116(4), 939–947.
38951961
10.1002/cpt.3351
Littlejohn, M.D., Taylor, D.R., Miller, A.L. and Kennedy, M.A. (2002), Determination of β2-adrenergic receptor (ADRB2) haplotypes by a multiplexed polymerase chain reaction assay †‡. Hum. Mutat., 20: 479-479.
12442282
10.1002/humu.9091
Pagerols, M., Richarte, V., Sánchez-Mora, C. et al. Pharmacogenetics of methylphenidate response and tolerability in attention-deficit/hyperactivity disorder. Pharmacogenomics J 17, 98–104 (2017).
26810137
10.1038/tpj.2015.89
ADRB1
Reference
PMID
DOI
Link to Original Article
Duarte, J. D., Thomas, C. D., Lee, C. R., Huddart, R., Agundez, J. A. G., Baye, J. F., Gaedigk, A., Klein, T. E., Lanfear, D. E., Monte, A. A., Nagy, M., Schwab, M., Stein, C. M., Uppugunduri, C. R. S., van Schaik, R. H. N., Donnelly, R. S., Caudle, K. E., & Luzum, J. A. (2024). Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, and GRK5 Genotypes and Beta-Blocker Therapy. Clinical pharmacology and therapeutics, 116(4), 939–947.
38951961
10.1002/cpt.3351
ADRB2
Reference
PMID
DOI
Link to Original Article
Petrone, A., Zavarella, S., Iacobellis, G. et al. Association of β2 adrenergic receptor polymorphisms and related haplotypes with triglyceride and LDL-cholesterol levels. Eur J Hum Genet 14, 94–100 (2006).
16251889
10.1038/sj.ejhg.5201521
Johnson, J.A., Terra, S.G. β-Adrenergic Receptor Polymorphisms: Cardiovascular Disease Associations and Pharmacogenetics. Pharm Res 19, 1779–1787 (2002).
12523655
10.1023/a:1021477021102
Taylor, M. Pharmacogenetics of the human beta-adrenergic receptors. Pharmacogenomics J 7, 29–37 (2007).
16636683
10.1038/sj.tpj.6500393
ANKK1
Reference
PMID
DOI
Link to Original Article
Spellicy, C. J., Kosten, T. R., Hamon, S. C., Harding, M. J., & Nielsen, D. A. (2013). ANKK1 and DRD2 pharmacogenetics of disulfiram treatment for cocaine abuse. Pharmacogenetics and genomics, 23(7), 333–340.
23635803
10.1097/FPC.0b013e328361c39d
Fedorenko, O. Y., Paderina, D. Z., Loonen, A. J. M., Pozhidaev, I. V., Boiko, A. S., Kornetova, E. G., Bokhan, N. A., Wilffert, B., & Ivanova, S. A. (2020). Association of ANKK1 polymorphism with antipsychotic-induced hyperprolactinemia. Human psychopharmacology, 35(4), e2737.
32383805
10.1002/hup.2737
Montalban, E., Walle, R., Castel, J., Ansoult, A., Hassouna, R., Foppen, E., Fang, X., Hutelin, Z., Mickus, S., Perszyk, E., Petitbon, A., Berthelet, J., Rodrigues-Lima, F., Cebrian-Serrano, A., Gangarossa, G., Martin, C., Trifilieff, P., Bosch-Bouju, C., Small, D. M., & Luquet, S. (2023). The addiction-susceptibility TaqIA/Ankk1 controls reward and metabolism through D2 receptor–expressing neurons. Biological Psychiatry, 94(5), 424–436.
36805080
10.1016/j.biopsych.2023.02.010
APOE
Reference
PMID
DOI
Link to Original Article
Ashare, R. L., Karlawish, J. H., Wileyto, E. P., Pinto, A., & Lerman, C. (2013). APOE ɛ4, an Alzheimer’s disease susceptibility allele, and smoking cessation. The pharmacogenomics journal, 13(6), 538–543.
23247396
10.1038/tpj.2012.49
Zintzaras, E., Kitsios, G., Triposkiadis, F. et al. APOE gene polymorphisms and response to statin therapy. Pharmacogenomics J 9, 248–257 (2009).
19529002
10.1038/tpj.2009.25
Novotni, G., Jakimovska, M., Plaseska-Karanfilska, D., Tanovska, N., Kuzmanovski, I., Aleksovski, V., Karanfilovik, K., Baneva-Dolnenec, N., Stankovic, M., Milutinovik, M., Iloski, S., Isjanovska, R., Blazevska-Stoilkovska, B., Duma, A., & Novotni, A. (2019). Evaluation of APOE Genotype and Vascular Risk Factors As Prognostic and Risk Factors for Alzheimer’s Disease and Their Influence On Age of Symptoms Onset. Open access Macedonian journal of medical sciences, 7(4), 516–520.
30894904
10.3889/oamjms.2019.166
Rasmussen, K. L. (2016). Plasma levels of apolipoprotein E, APOE genotype and risk of dementia and ischemic heart disease: A review. Atherosclerosis, 255, 145–155.
28340945
10.1016/j.atherosclerosis.2016.10.037
BCHE
Reference
PMID
DOI
Link to Original Article
Zhu, G. D., Dawson, E., Huskey, A., Gordon, R. J., & Del Tredici, A. L. (2020). Genetic Testing for BCHE Variants Identifies Patients at Risk of Prolonged Neuromuscular Blockade in Response to Succinylcholine. Pharmacogenomics and personalized medicine, 13, 405–414.
33061533
10.2147/PGPM.S263741
Millet, C., Plaud, B., & Delacour, H. (2021). Phenotype and genotype characteristics of 58 patients showing a prolonged effect of succinylcholine: A four-year experience. Anaesthesia Critical Care & Pain Medicine, 40(2), 100847
33774263
10.1016/j.accpm.2021.100847
C110rf65
Reference
PMID
DOI
Link to Original Article
van Leeuwen, N., Nijpels, G., Becker, M. L., Deshmukh, H., Zhou, K., Stricker, B. H., Uitterlinden, A. G., Hofman, A., van ‘t Riet, E., Palmer, C. N., Guigas, B., Slagboom, P. E., Durrington, P., Calle, R. A., Neil, A., Hitman, G., Livingstone, S. J., Colhoun, H., Holman, R. R., McCarthy, M. I., … Pearson, E. R. (2012). A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts. Diabetologia, 55(7), 1971–1977.
22453232
10.1007/s00125-012-2537-x
Zhou, Y., Guo, Y., Ye, W., Wang, Y., Li, X., Tian, Y., Liu, Z., Li, S. and Yan, J. (2014), RS11212617 is associated with metformin treatment response in type 2 diabetes in Shanghai local Chinese population. Int J Clin Pract, 68: 1462-1466.
25296556
10.1111/ijcp.12534
COMT
Reference
PMID
DOI
Link to Original Article
Kotyuk, E., Duchek, J., Head, D., Szekely, A., Goate, A. M., & Balota, D. A. (2015). A Genetic Variant (COMT) Coding Dopaminergic Activity Predicts Personality Traits in Healthy Elderly. Personality and individual differences, 82, 61–66.
25960587
10.1016/j.paid.2015.03.012
COMT VIP Summary
N/A
N/A
Crews, K. R., Monte, A. A., Huddart, R., Caudle, K. E., Kharasch, E. D., Gaedigk, A., Dunnenberger, H. M., Leeder, J. S., Callaghan, J. T., Samer, C. F., Klein, T. E., Haidar, C. E., Van Driest, S. L., Ruano, G., Sangkuhl, K., Cavallari, L. H., Müller, D. J., Prows, C. A., Nagy, M., Somogyi, A. A., … Skaar, T. C. (2021). Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy. Clinical pharmacology and therapeutics, 110(4), 888–896.
33387367
10.1002/cpt.2149
Srivastava, K., Ochuba, O., Sandhu, J. K., Alkayyali, T., Ruo, S. W., Waqar, A., Jain, A., Joseph, C., & Poudel, S. (2021). Effect of Catechol-O-Methyltransferase Genotype Polymorphism on Neurological and Psychiatric Disorders: Progressing Towards Personalized Medicine. Cureus, 13(9), e18311.
34725583
10.7759/cureus.18311
Heinz,, A. & Smolka,, M. (). The Effects of Catechol O-methyltransferase Genotype on Brain Activation Elicited by Affective Stimuli and Cognitive Tasks. Reviews in the Neurosciences, 17(3), 359-368.
16878403
10.1515/revneuro.2006.17.3.359
CYP1A2
Reference
PMID
DOI
Link to Original Article
Scherf-Clavel, M., Weber, H., Weiß, C., Klüpfel, C., Stonawski, S., Hommers, L., Unterecker, S., Domschke, K., Menke, A., Kittel-Schneider, S., Walther, S., Deckert, J., & Erhardt-Lehmann, A. (2025). CYP1A2 genotype-dependent effects of smoking on mirtazapine serum concentrations. Journal of psychopharmacology (Oxford, England), 39(8), 847–854.
40353511
10.1177/02698811251337387
Dobrinas, M., Cornuz, J., Oneda, B., Kohler Serra, M., Puhl, M. and Eap, C. (2011), Impact of Smoking, Smoking Cessation, and Genetic Polymorphisms on CYP1A2 Activity and Inducibility. Clinical Pharmacology & Therapeutics, 90: 117-125.
21593735
10.1038/clpt.2011.70
Djordjevic, N., Ghotbi, R., Jankovic, S. et al. Induction of CYP1A2 by heavy coffee consumption is associated with the CYP1A2 −163C>A polymorphism. Eur J Clin Pharmacol 66, 697–703 (2010).
20390257
10.1007/s00228-010-0823-4
Laika, B., Leucht, S., Heres, S. et al. Pharmacogenetics and olanzapine treatment: CYP1A2*1F and serotonergic polymorphisms influence therapeutic outcome. Pharmacogenomics J 10, 20–29 (2010).
19636338
10.1038/tpj.2009.32
Koonrungsesomboon, N., Khatsri, R., Wongchompoo, P. et al. The impact of genetic polymorphisms on CYP1A2 activity in humans: a systematic review and meta-analysis. Pharmacogenomics J 18, 760–768 (2018).
29282363
10.1038/s41397-017-0011-3
CYP2B6
Reference
PMID
DOI
Link to Original Article
Eum S, Sayre F, Lee AM, Stingl JC, Bishop JR. Association of CYP2B6 genetic polymorphisms with bupropion and hydroxybupropion exposure: A systematic review and meta-analysis. Pharmacotherapy. 2022; 42: 34–44.
34752647
10.1002/phar.2644
Bousman, C. A., Stevenson, J. M., Ramsey, L. B., Sangkuhl, K., Hicks, J. K., Strawn, J. R., Singh, A. B., Ruaño, G., Mueller, D. J., Tsermpini, E. E., Brown, J. T., Bell, G. C., Leeder, J. S., Gaedigk, A., Scott, S. A., Klein, T. E., Caudle, K. E., & Bishop, J. R. (2023). Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants. Clinical pharmacology and therapeutics, 114(1), 51–68.
37032427
10.1002/cpt.2903
Thorn, C. F., Lamba, J. K., Lamba, V., Klein, T. E., & Altman, R. B. (2010). PharmGKB summary: very important pharmacogene information for CYP2B6. Pharmacogenetics and genomics, 20(8), 520–523.
20648701
10.1097/fpc.0b013e32833947c2
Desta, Z., El-Boraie, A., Gong, L., Somogyi, A. A., Lauschke, V. M., Dandara, C., Klein, K., Miller, N. A., Klein, T. E., Tyndale, R. F., Whirl-Carrillo, M., & Gaedigk, A. (2021). PharmVar GeneFocus: CYP2B6. Clinical pharmacology and therapeutics, 110(1), 82–97.
33448339
10.1002/cpt.2166
CYP2C8
Reference
PMID
DOI
Link to Original Article
CYP2C8-Mediated Drug-Drug Interactions and the Factors Influencing the Interaction Magnitude 2025 Sep 16:19:8391-8413
40980418
10.2147/dddt.s541536
Human CYP2C8: structure, substrate specificity, inhibitor selectivity, inducers and polymorphisms 2009 Nov;10(9):1009-47
20214592
10.2174/138920009790711832
Human liver expression of CYP2C8: gender, age, and genotype effects 2010 Jun;38(6):889-93
20190184
10.1124/dmd.109.031542
The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals 2022 Jul;22(4):247-249
35780191
10.1038/s41397-022-00284-6
CYP2C9
Reference
PMID
DOI
Link to Original Article
Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing 2011 Oct;90(4):625-9
21900891
10.1038/clpt.2011.185
Effect of VKORC1, CYP2C9 and CYP4F2 genetic variants in early outcomes during acenocoumarol treatment 2014 May;15(7):987-96
24956252
10.2217/pgs.13.232
Influence of CYP2C9 and VKORC1 genotypes on the risk of hemorrhagic complications in warfarin-treated patients: a systematic review and meta-analysis 2013 Oct 9;168(4):4234-43
23932037
10.1016/j.ijcard.2013.07.151
Influence of CYP2C9 and VKORC1 on patient response to warfarin: a systematic review and meta-analysis 2012;7(8):e44064
22952875
10.1371/journal.pone.0044064
Influence of CYP2C9 genotype on warfarin dose requirements–a systematic review and meta-analysis 2009 Apr;65(4):365-75
19031075
10.1007/s00228-008-0584-5
Pharmacogenetics of drug-drug interaction and drug-drug-gene interaction: a systematic review on CYP2C9, CYP2C19 and CYP2D6 2017 May;18(7):701-739
28480783
10.2217/pgs-2017-0194
The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals 2022 Jul;22(4):247-249
35780191
10.1038/s41397-022-00284-6
Warfarin dose and the pharmacogenomics of CYP2C9 and VKORC1 – rationale and perspectives 2007;120(1):1-10.
17161452
10.1016/j.thromres.2006.10.021
CYP2C19
Reference
PMID
DOI
Link to Original Article
Milosavljevic, F., Bukvic, N., Pavlovic, Z., Miljevic, C., Pešic, V., Molden, E., Ingelman-Sundberg, M., Leucht, S., & Jukic, M. M. (2021). Association of CYP2C19 and CYP2D6 Poor and Intermediate Metabolizer Status With Antidepressant and Antipsychotic Exposure: A Systematic Review and Meta-analysis. JAMA psychiatry, 78(3), 270–280.
33237321
10.1001/jamapsychiatry.2020.3643
Bousman, C. A., Stevenson, J. M., Ramsey, L. B., Sangkuhl, K., Hicks, J. K., Strawn, J. R., Singh, A. B., Ruaño, G., Mueller, D. J., Tsermpini, E. E., Brown, J. T., Bell, G. C., Leeder, J. S., Gaedigk, A., Scott, S. A., Klein, T. E., Caudle, K. E., & Bishop, J. R. (2023). Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants. Clinical pharmacology and therapeutics, 114(1), 51–68.
37032427
10.1002/cpt.2903
Bonasser, L. S. S., Silva, C. M. S., Fratelli, C. F., Gontijo, B. R., Seixas, J. M. A., Barreto, L. C. L. S., & Silva, I. C. R. D. (2024). CYP2C19 Genetic Variants and Major Depressive Disorder: A Systematic Review. Pharmaceuticals (Basel, Switzerland), 17(11), 1461.
39598373
10.3390/ph17111461
Holmes MV, Perel P, Shah T, Hingorani AD, Casas JP. CYP2C19 Genotype, Clopidogrel Metabolism, Platelet Function, and Cardiovascular Events: A Systematic Review and Meta-analysis. JAMA. 2011;306(24):2704–2714.
22203539
10.1001/jama.2011.1880
Bauer, T., Bouman, H. J., van Werkum, J. W., Ford, N. F., ten Berg, J. M., & Taubert, D. (2011). Impact of CYP2C19 variant genotypes on clinical efficacy of antiplatelet treatment with clopidogrel: systematic review and meta-analysis. BMJ (Clinical research ed.), 343, d4588.
21816733
10.1136/bmj.d4588
de Brabander, E., Kleine Schaars, K., van Amelsvoort, T., Budde, M., Heilbronner, U., Young, A. H., Juruena, M., Vieta, E., Fares-Otero, N. E., Kas, M. J., Nöthen, M., Philipsen, A., Kilarski, L. L., Laatsch, J., Rossner, M. J., Wichert, S. P., Moldovan, R., Shomron, N., Schulze, T. G., King Ng, R. M., Olisa, N., Van der Eycken, E., Pelgrim, T. A. D., & van Westrhenen, R. (2024). Influence of CYP2C19 and CYP2D6 on side effects of aripiprazole and risperidone: A systematic review. Journal of Psychiatric Research, 174, 137–152.
38631139
10.1016/j.jpsychires.2024.04.001
Bahar, M. A., Setiawan, D., Hak, E., & Wilffert, B. (2017). Pharmacogenetics of Drug–Drug Interaction and Drug–Drug–Gene Interaction: A Systematic Review on CYP2C9, CYP2C19 and CYP2D6. Pharmacogenomics, 18(7), 701–739.
28480783
10.2217/pgs-2017-0194
CYP2D6
Reference
PMID
Article Link
Association of CYP2C19 and CYP2D6 Poor and Intermediate Metabolizer Status With Antidepressant and Antipsychotic Exposure: A Systematic Review and Meta-analysis 2021 Mar 1;78(3):270-280.
33237321
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants 2023 Jul;114(1):51-68.
37032427
Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update. Clin Pharmacol Ther. 2017 Jul;102(1):37-44.
27997040
Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, and GRK5 Genotypes and Beta-Blocker Therapy. Clin Pharmacol Ther. 2024 Oct;116(4):939-947
38951961
Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants. Clin Pharmacol Ther. 2013 May;93(5):402-8.
23486447
Codeine intoxication associated with ultrarapid CYP2D6 metabolism. N Engl J Med. 2004 Dec 30;351(27):2827-31.
15625333
Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy. Clin Pharmacol Ther. 2021 Oct;110(4):888-896.
33387367
Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for codeine therapy in the context of cytochrome P450 2D6 (CYP2D6) genotype. Clin Pharmacol Ther. 2012 Feb;91(2):321-6.
22205192
CYP2D6 copy number distribution in the US population. Pharmacogenet Genomics. 2016 Feb;26(2):96-9.
26551314
PharmVar GeneFocus: CYP2D6. Clin Pharmacol Ther. 2020 Jan;107(1):154-170.
31544239
CYP2D6 Genetic Polymorphisms and Risperidone Pharmacokinetics: A Systematic Review and Meta-analysis. Pharmacotherapy. 2020 Jul;40(7):632-647
32519344
CYP2D6: novel genomic structures and alleles. Pharmacogenet Genomics. 2009 Oct;19(10):813-22.
19741566
Pharmacogenetics of drug-drug interaction and drug-drug-gene interaction: a systematic review on CYP2C9, CYP2C19 and CYP2D6. Pharmacogenomics. 2017 May;18(7):701-739
28480783
Substrate specificity of CYP2D6 genetic variants. Pharmacogenomics. 2021 Nov;22(16):1081-1089
34569808
CYP3A4
Reference
PMID
Article Link
Clinically important drug interactions potentially involving mechanism-based inhibition of cytochrome P450 3A4 and the role of therapeutic drug monitoring. Ther Drug Monit. 2007 Dec;29(6):687-710.
18043468
CYP3A4 and CYP3A5: the crucial roles in clinical drug metabolism and the significant implications of genetic polymorphisms. PeerJ. 2024 Dec 5;12:e18636
39650550
CYP3A4 VIP Summary
N/A
Functional gene variants of CYP3A4
N/A
CYP3A5
Reference
PMID
Article Link
CYP3A4 and CYP3A5: the crucial roles in clinical drug metabolism and the significant implications of genetic polymorphisms. PeerJ. 2024 Dec 5;12:e18636
39650550
Genetic variability in CYP3A5 and its possible consequences. Pharmacogenomics. 2004 Apr;5(3):243-72
15102541
PharmVar GeneFocus: CYP3A5. Clin Pharmacol Ther. 2022 Dec;112(6):1159-1171
35202484
CYP4F2
Reference
PMID
Article Link
CYP4F2 genetic variant alters required warfarin dose. Blood. 2008 Apr 15;111(8):4106-12.
18250228
Effect of VKORC1, CYP2C9 and CYP4F2 genetic variants in early outcomes during acenocoumarol treatment. Pharmacogenomics. 2014 May;15(7):987-96. doi: 10.2217/pgs.13.232
24956252
Influence of CYP4F2 genotype on warfarin dose requirement-a systematic review and meta-analysis. Thromb Res. 2012 Jul;130(1):38-44
22192158
PharmGKB summary: very important pharmacogene information for CYP4F2. Pharmacogenet Genomics. 2015 Jan;25(1):41-7.
25370453
PharmVar GeneFocus: CYP4F2. Clin Pharmacol Ther. 2024 Oct;116(4):963-975
39135485
DPYD
Reference
PMID
Article Link
PharmVar GeneFocus: CYP4F2. Clin Pharmacol Ther. 2024 Oct;116(4):963-975
39135485
Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data. Lancet Oncol. 2015 Dec;16(16):1639-50
26603945
DPYD*2A mutation: the most common mutation associated with DPD deficiency. Cancer Chemother Pharmacol. 2007 Sep;60(4):503-7
17165084
DPYD VIP Summary
N/A
DRD2
Reference
PMID
Article Link
ANKK1 and DRD2 pharmacogenetics of disulfiram treatment for cocaine abuse. Pharmacogenet Genomics. 2013 Jul;23(7):333-40.
23635803
DRD2 Ser311/Cys311 polymorphism in schizophrenia. Lancet. 1994 Apr 23;343(8904):1044
7909078
DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs. Biomedicines. 2023 Jul 24;11(7):2088
37509727
DPYD VIP Summary
N/A
EPHX1
Reference
PMID
Article Link
Association of polymorphisms in EPHX1, UGT2B7, ABCB1, ABCC2, SCN1A and SCN2A genes with carbamazepine therapy optimization. Pharmacogenomics. 2012 Jan;13(2):159-69
22188362
EPHX1 and ERCC2 polymorphisms are associated with cisplatin-induced nephrotoxicity and prognosis in Thai cancer patients. PLoS One. 2025 Jun 17;20(6):e0324699
40526606
Factor II
Reference
PMID
Article Link
Bosler, D., Mattson, J., & Crisan, D. (2006). Phenotypic Heterogeneity in Patients with Homozygous Prothrombin 20210AA Genotype. A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. The Journal of molecular diagnostics : JMD, 8(4), 420–425.
16931580
Varga, E. A., & Moll, S. (2004). Cardiology patient pages. Prothrombin 20210 mutation (factor II mutation). Circulation, 110(3), e15–e18.
15262854
Spector, E. B., Grody, W. W., Matteson, C. J., Palomaki, G. E., Bellissimo, D. B., Wolff, D. J., Bradley, L. A., Prior, T. W., Feldman, G., Popovich, B. W., Watson, M. S., & Richards, C. S. (2005). Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. Genetics in medicine : official journal of the American College of Medical Genetics, 7(6), 444–453.
16024978
Factor V Leiden
Reference
PMID
Article Link
Castoldi E, Rosing J. Factor V Leiden: a disorder of factor V anticoagulant function. Curr Opin Hematol. 2004 May;11(3):176-81.
15257017
Price DT, Ridker PM. Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med. 1997 Nov 15;127(10):895-903.
9382368
Longstreth WT Jr, Rosendaal FR, Siscovick DS, Vos HL, Schwartz SM, Psaty BM, Raghunathan TE, Koepsell TD, Reitsma PH. Risk of stroke in young women and two prothrombotic mutations: factor V Leiden and prothrombin gene variant (G20210A). Stroke. 1998 Mar;29(3):577-80.
9506595
Ornstein DL, Cushman M. Cardiology patient page. Factor V Leiden. Circulation. 2003 Apr 22;107(15):e94-7.
12707252
Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ, Bradley LA, Prior TW, Feldman G, Popovich BW, Watson MS, Richards CS. Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. Genet Med. 2005 Jul-Aug;7(6):444-53.
16024978
GRIK4
Reference
PMID
Article Link
Paddock, S., Laje, G., Charney, D., Rush, A. J., Wilson, A. F., Sorant, A. J., Lipsky, R., Wisniewski, S. R., Manji, H., & McMahon, F. J. (2007). Association of GRIK4 with outcome of antidepressant treatment in the STAR*D cohort. The American journal of psychiatry, 164(8), 1181–1188.
17671280
Chappell, K., Colle, R., El Asmar, K., Gressier, F., Bouligand, J., Trabado, S., Fève, B., Becquemont, L., Corruble, E., & Verstuyft, C. (2025). Association of the GRIK4 rs1954787 polymorphism with clinical response in antidepressant-treated depressed patients: results from a prospective cohort and meta-analysis. Molecular psychiatry, 30(4), 1529–1538.
39462036
Kawaguchi, D. M., & Glatt, S. J. (2014). GRIK4 polymorphism and its association with antidepressant response in depressed patients: a meta-analysis. Pharmacogenomics, 15(11), 1451–1459.
25303296
HTR1A
Reference
PMID
Article Link
Yoshikawa, A., Li, J., & Meltzer, H. Y. (2020). A functional HTR1A polymorphism, rs6295, predicts short-term response to lurasidone: confirmation with meta-analysis of other antipsychotic drugs. The pharmacogenomics journal, 20(2), 260–270.
31636356
Qin, Y., Zhao, J., Yang, Y., Liu, Y., Xiang, H., Tong, J., & Huang, C. (2024). Association of HTR1A Gene Polymorphisms with Efficacy and Plasma Concentrations of Atypical Antipsychotics in the Treatment of Male Patients with Schizophrenia. Neuropsychiatric disease and treatment, 20, 185–193.
38312123
Hanna, S., Faiz, M., Ahmed, S., Hsieh, C., Temkit, S., Nunez, C., & Zhou, F. (2025). The interplay between SLC6A4 and HTR1A genetic variants that may lead to antidepressant failure. The pharmacogenomics journal, 25(3), 13.
40335484
HTR2A
Reference
PMID
Article Link
Gunes, A., Melkersson, K. I., Scordo, M. G., & Dahl, M. L. (2009). Association between HTR2C and HTR2A polymorphisms and metabolic abnormalities in patients treated with olanzapine or clozapine. Journal of clinical psychopharmacology, 29(1), 65–68.
19142110
Wang, Y., Tan, X., Chen, Z., Zhang, B., Gao, Y., & Wang, Y. (2023). Association between the rs6313 polymorphism in the 5-HTR2A gene and the efficacy of antipsychotic drugs. BMC psychiatry, 23(1), 682.
37726709
Maffioletti, E., Valsecchi, P., Minelli, A., Magri, C., Bonvicini, C., Barlati, S., Sacchetti, E., Vita, A., & Gennarelli, M. (2020). Association study between HTR2A rs6313 polymorphism and early response to risperidone and olanzapine in schizophrenia patients. Drug development research, 81(6), 754–761.
32462699
Wan, Y. S., Zhai, X. J., Tan, H. A., Ai, Y. S., & Zhao, L. B. (2021). 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. The pharmacogenomics journal, 21(2), 200–215.
33097827
Bousman, C. A., Stevenson, J. M., Ramsey, L. B., Sangkuhl, K., Hicks, J. K., Strawn, J. R., Singh, A. B., Ruaño, G., Mueller, D. J., Tsermpini, E. E., Brown, J. T., Bell, G. C., Leeder, J. S., Gaedigk, A., Scott, S. A., Klein, T. E., Caudle, K. E., & Bishop, J. R. (2023). Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants. Clinical pharmacology and therapeutics, 114(1), 51–68.
37032427
Del Casale, A., Simmaco, M., Modesti, M. N., Zocchi, C., Arena, J. F., Bilotta, I., Alcibiade, A., Sarli, G., Cutillo, L., Antonelli, G., La Spina, E., De Luca, O., Preissner, R., Borro, M., Gentile, G., Girardi, P., & Pompili, M. (2023). DRD2, DRD3, and HTR2A Single-Nucleotide Polymorphisms Involvement in High Treatment Resistance to Atypical Antipsychotic Drugs. Biomedicines, 11(7), 2088.
37509727
Kishi, T., Yoshimura, R., Kitajima, T., Okochi, T., Okumura, T., Tsunoka, T., Yamanouchi, Y., Kinoshita, Y., Kawashima, K., Naitoh, H., Nakamura, J., Ozaki, N., & Iwata, N. (2010). HTR2A is associated with SSRI response in major depressive disorder in a Japanese cohort. Neuromolecular medicine, 12(3), 237–242.
19937159
Wilkie, M. J., Smith, G., Day, R. K., Matthews, K., Smith, D., Blackwood, D., Reid, I. C., & Wolf, C. R. (2009). Polymorphisms in the SLC6A4 and HTR2A genes influence treatment outcome following antidepressant therapy. The pharmacogenomics journal, 9(1), 61–70.
18253134
Lohoff, F. W., Aquino, T. D., Narasimhan, S., Multani, P. K., Etemad, B., & Rickels, K. (2013). Serotonin receptor 2A (HTR2A) gene polymorphism predicts treatment response to venlafaxine XR in generalized anxiety disorder. The pharmacogenomics journal, 13(1), 21–26.
22006095
HTR2C
Reference
PMID
Article Link
Gunes, A., Melkersson, K. I., Scordo, M. G., & Dahl, M. L. (2009). Association between HTR2C and HTR2A polymorphisms and metabolic abnormalities in patients treated with olanzapine or clozapine. Journal of clinical psychopharmacology, 29(1), 65–68.
19142110
Rico-Gomis JM, Palazón-Bru A, Triano-García I, Mahecha-García LF, García-Monsalve A, Navarro-Ruiz A, Villagordo-Peñalver B, Jiménez-Abril J, Martínez-Hortelano A, Gil-Guillén VF. Association between the HTR2C rs1414334 C/G gene polymorphism and the development of the metabolic syndrome in patients treated with atypical antipsychotics. PeerJ. 2016 Jul 7;4:e2163.
27441116
De Luca V, Mueller DJ, de Bartolomeis A, Kennedy JL. Association of the HTR2C gene and antipsychotic induced weight gain: a meta-analysis. Int J Neuropsychopharmacol. 2007 Oct;10(5):697-704.
17291373
Hill MJ, Reynolds GP. Functional consequences of two HTR2C polymorphisms associated with antipsychotic-induced weight gain. Pharmacogenomics. 2011 May;12(5):727-34.
21391883
De Luca V, Müller DJ, Hwang R, Lieberman JA, Volavka J, Meltzer HY, Kennedy JL. HTR2C haplotypes and antipsychotics-induced weight gain: X-linked multimarker analysis. Hum Psychopharmacol. 2007 Oct;22(7):463-7.
17702092
Godlewska BR, Olajossy-Hilkesberger L, Ciwoniuk M, Olajossy M, Marmurowska-Michałowska H, Limon J, Landowski J. Olanzapine-induced weight gain is associated with the -759C/T and -697G/C polymorphisms of the HTR2C gene. Pharmacogenomics J. 2009 Aug;9(4):234-41.
19434072
Ma X, Maimaitirexiati T, Zhang R, Gui X, Zhang W, Xu G, Hu G. HTR2C polymorphisms, olanzapine-induced weight gain and antipsychotic-induced metabolic syndrome in schizophrenia patients: a meta-analysis. Int J Psychiatry Clin Pract. 2014 Oct;18(4):229-42.
25152019
Sicard MN, Zai CC, Tiwari AK, Souza RP, Meltzer HY, Lieberman JA, Kennedy JL, Müller DJ. Polymorphisms of the HTR2C gene and antipsychotic-induced weight gain: an update and meta-analysis. Pharmacogenomics. 2010 Nov;11(11):1561-71.
21121776
Mulder H, Franke B, van der-Beek van der AA, Arends J, Wilmink FW, Scheffer H, Egberts AC. The association between HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia. J Clin Psychopharmacol. 2007 Aug;27(4):338-43.
17632216
ITGB3
Reference
PMID
Article Link
C Conkbayir , M Ergoren , H Cobanogullari , O Balcioglu , I Abras , T Eminsel , D Oztas , M Ugurlucan , S Temel. Associations of the ITGB3 gene rs5918T>C and the APOA1 gene rs1799837C>T markers with serum lipid metabolism in coronary artery disease patients. European Heart Journal. 2021 Oct;42.
N/A
Khatami M, Heidari MM, Soheilyfar S. Common rs5918 (PlA1/A2) polymorphism in the ITGB3 gene and risk of coronary artery disease. Arch Med Sci Atheroscler Dis. 2016 Apr 27;1(1):e9-e15.
28905013
Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Négrier C, Nugent D, Oiron RD, Rand ML, Sié P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, Fretigny M, Nurden P, Heilig R, Vinciguerra C. Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. Hum Mutat. 2015 May;36(5):548-61.
25728920
Sheikhvatan M, Boroumand MA, Behmanesh M, Ziaee S, Cheraghee S. Integrin Beta-3 Gene Polymorphism and Risk for Myocardial Infarction in Premature Coronary Disease. Iran J Biotechnol. 2019 Apr 20;17(2):e1921.
31457051
MTHFR
Reference
PMID
Article Link
Tsang BL, Devine OJ, Cordero AM, Marchetta CM, Mulinare J, Mersereau P, Guo J, Qi YP, Berry RJ, Rosenthal J, Crider KS, Hamner HC. Assessing the association between the methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism and blood folate concentrations: a systematic review and meta-analysis of trials and observational studies. Am J Clin Nutr. 2015 Jun;101(6):1286-94.
25788000
Schwahn BC, Rozen R. Methylenetetrahydrofolate Reductase Polymorphisms: Pharmacogenetic Effects. In: Madame Curie Bioscience Database [Internet]. Austin (TX): Landes Bioscience; 2000-2013.
N/A
Araszkiewicz AF, Jańczak K, Wójcik P, Białecki B, Kubiak S, Szczechowski M, Januszkiewicz-Lewandowska D. MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications-A Review. Genes (Basel). 2025 Apr 8;16(4):441.
40282401
MTHFR VIP Summary
N/A
Zarembska E, Ślusarczyk K, Wrzosek M. The Implication of a Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Homocysteine Metabolism and Related Civilisation Diseases. Int J Mol Sci. 2023 Dec 22;25(1):193.
38203363
Marini NJ, Gin J, Ziegle J, Keho KH, Ginzinger D, Gilbert DA, Rine J. The prevalence of folate-remedial MTHFR enzyme variants in humans. Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8055-60.
18523009
NUDT15
Reference
PMID
Article Link
Zhang AL, Yang J, Wang H, Lu JL, Tang S, Zhang XJ. Association of NUDT15 c.415C>T allele and thiopurine-induced leukocytopenia in Asians: a systematic review and meta-analysis. Ir J Med Sci. 2018 Feb;187(1):145-153.
28470355
Nomura H, Kurihara Y, Saito M, Fukushima A, Shintani Y, Shiiyama R, Toshima S, Kamata A, Yamagami J, Funakoshi T, Kameyama K, Amagai M, Kubo A, Umegaki-Arao N. Azathioprine-induced alopecia and leukopenia associated with NUDT15 polymorphisms. J Eur Acad Dermatol Venereol. 2018 Oct;32(10):e386-e389.
29704867
Yang JJ, Whirl-Carrillo M, Scott SA, Turner AJ, Schwab M, Tanaka Y, Suarez-Kurtz G, Schaeffeler E, Klein TE, Miller NA, Gaedigk A. Pharmacogene Variation Consortium Gene Introduction: NUDT15. Clin Pharmacol Ther. 2019 May;105(5):1091-1094.
30515762
Maillard M, Schwab M, Whirl-Carrillo M, Moyer AM, Suarez-Kurtz G, Pui CH, Stein CM, Klein TE, Spahn C, Kwon S, Hartono JL, de Boer NK, Ahmad T, Antillon-Klussmann FG, Caudle KE, Kato M, Yeoh AEJ, Schmiegelow K, Yang JJ. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update. Clin Pharmacol Ther. 2026 Jan 31.
41618934
Yang JJ, Whirl-Carrillo M, Scott SA, Turner AJ, Schwab M, Tanaka Y, Suarez-Kurtz G, Schaeffeler E, Klein TE, Miller NA, Gaedigk A. Pharmacogene Variation Consortium Gene Introduction: NUDT15. Clin Pharmacol Ther. 2019 May;105(5):1091-1094.
30515762
OPRM1
Reference
PMID
Article Link
Campa D, Gioia A, Tomei A, Poli P, Barale R. Association of ABCB1/MDR1 and OPRM1 gene polymorphisms with morphine pain relief. Clin Pharmacol Ther. 2008 Apr;83(4):559-66.
17898703
Zhou H, Rentsch CT, Cheng Z, Kember RL, Nunez YZ, Sherva RM, Tate JP, Dao C, Xu K, Polimanti R, Farrer LA, Justice AC, Kranzler HR, Gelernter J; Veterans Affairs Million Veteran Program. Association of OPRM1 Functional Coding Variant With Opioid Use Disorder: A Genome-Wide Association Study. JAMA Psychiatry. 2020 Oct 1;77(10):1072-1080.
32492095
Crews KR, Monte AA, Huddart R, Caudle KE, Kharasch ED, Gaedigk A, Dunnenberger HM, Leeder JS, Callaghan JT, Samer CF, Klein TE, Haidar CE, Van Driest SL, Ruano G, Sangkuhl K, Cavallari LH, Müller DJ, Prows CA, Nagy M, Somogyi AA, Skaar TC. Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy. Clin Pharmacol Ther. 2021 Oct;110(4):888-896.
33387367
Hwang IC, Park JY, Myung SK, Ahn HY, Fukuda K, Liao Q. OPRM1 A118G gene variant and postoperative opioid requirement: a systematic review and meta-analysis. Anesthesiology. 2014 Oct;121(4):825-34.
25102313
Margarit C, Ballester P, Inda MD, Roca R, Gomez L, Planelles B, Ajo R, Morales D, Peiro AM. OPRM1 Gene Interaction with Sleep in Chronic Pain Patients Treated with Opioids. Pain Physician. 2019 Jan;22(1):97-107.
30700073
Haerian BS, Haerian MS. OPRM1 rs1799971 polymorphism and opioid dependence: evidence from a meta-analysis. Pharmacogenomics. 2013 May;14(7):813-24.
23651028
Oueslati B, Moula O, Ghachem R. The impact of OPRM1’s genetic polymorphisms on methadone maintenance treatment in opioid addicts: a systematic review. Pharmacogenomics. 2018 Jun 1;19(8):741-747. doi: 10.2217/pgs-2018-0017.
29785888
SLC6A2
Reference
PMID
Article Link
Ramoz N, Boni C, Downing AM, Close SL, Peters SL, Prokop AM, Allen AJ, Hamon M, Purper-Ouakil D, Gorwood P. A haplotype of the norepinephrine transporter (Net) gene Slc6a2 is associated with clinical response to atomoxetine in attention-deficit hyperactivity disorder (ADHD). Neuropsychopharmacology. 2009 Aug;34(9):2135-42.
19387424
Kole IH, Vural P, Yurdacan B, Alemdar A, Mutlu C. Evaluation of SLC6A2 and CYP2D6 polymorphisms’ effects on atomoxetine treatment in attention deficit and hyperactivity disorder. Eur J Clin Pharmacol. 2024 Nov;80(11):1773-1785.
39158690
Yuan D, Zhang M, Huang Y, Wang X, Jiao J, Huang Y. Noradrenergic genes polymorphisms and response to methylphenidate in children with ADHD: A systematic review and meta-analysis. Medicine (Baltimore). 2021 Nov 19;100(46):e27858.
34797323
SLC6A4
Reference
PMID
Article Link
Bousman CA, Stevenson JM, Ramsey LB, Sangkuhl K, Hicks JK, Strawn JR, Singh AB, Ruaño G, Mueller DJ, Tsermpini EE, Brown JT, Bell GC, Leeder JS, Gaedigk A, Scott SA, Klein TE, Caudle KE, Bishop JR. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants. Clin Pharmacol Ther. 2023 Jul;114(1):51-68.
37032427
Wilkie MJ, Smith G, Day RK, Matthews K, Smith D, Blackwood D, Reid IC, Wolf CR. Polymorphisms in the SLC6A4 and HTR2A genes influence treatment outcome following antidepressant therapy. Pharmacogenomics J. 2009 Feb;9(1):61-70.
18253134
Hanna S, Faiz M, Ahmed S, Hsieh C, Temkit S, Nunez C, Zhou F. The interplay between SLC6A4 and HTR1A genetic variants that may lead to antidepressant failure. Pharmacogenomics J. 2025 May 7;25(3):13.
40335484
SLCO1B1
Reference
PMID
Article Link
Lehtisalo M, Taskinen S, Tarkiainen EK, Neuvonen M, Viinamäki J, Paile-Hyvärinen M, Lilius TO, Tapaninen T, Backman JT, Tornio A, Niemi M. A comprehensive pharmacogenomic study indicates roles for SLCO1B1, ABCG2 and SLCO2B1 in rosuvastatin pharmacokinetics. Br J Clin Pharmacol. 2023 Jan;89(1):242-252.
35942816
González-Iglesias E, Méndez-Ponce C, Ochoa D, Román M, Mejía-Abril G, Martín-Vilchez S, de Miguel A, Gómez-Fernández A, Rodríguez-Lopez A, Soria-Chacartegui P, Abad-Santos F, Novalbos J. Effect of Genetic Variants on Rosuvastatin Pharmacokinetics in Healthy Volunteers: Involvement of ABCG2, SLCO1B1 and NAT2. Int J Mol Sci. 2024 Dec 30;26(1):260.
39796117
Ramsey LB, Gong L, Lee SB, Wagner JB, Zhou X, Sangkuhl K, Adams SM, Straka RJ, Empey PE, Boone EC, Klein TE, Niemi M, Gaedigk A. PharmVar GeneFocus: SLCO1B1. Clin Pharmacol Ther. 2023 Apr;113(4):782-793.
35797228
Singh K, Peyser B, Trujillo G, Milazzo N, Savard D, Haga SB, Musty M, Voora D. Rationale and design of the SLCO1B1 genotype guided statin therapy trial. Pharmacogenomics. 2016 Nov;17(17):1873-1880.
27807988
SEARCH Collaborative Group; 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 Aug 21;359(8):789-99.
18650507
Vladutiu GD, Isackson PJ. SLCO1B1 variants and statin-induced myopathy. N Engl J Med. 2009 Jan 15;360(3):304.
19144951
TPMT
Reference
PMID
Article Link
Budhiraja, P., & Popovtzer, M. (2011). Azathioprine-related myelosuppression in a patient homozygous for TPMT*3A. Nature reviews. Nephrology, 7(8), 478–484.
21712851
Lennard L. (2014). Implementation of TPMT testing. British journal of clinical pharmacology, 77(4), 704–714.
23962279
Maillard, M., Schwab, M., Whirl-Carrillo, M., Moyer, A. M., Suarez-Kurtz, G., Pui, C. H., Stein, C. M., Klein, T. E., Spahn, C., Kwon, S., Hartono, J. L., de Boer, N. K., Ahmad, T., Antillon-Klussmann, F. G., Caudle, K. E., Kato, M., Yeoh, A. E. J., Schmiegelow, K., & Yang, J. J. (2026). Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update. Clinical pharmacology and therapeutics, 10.1002/cpt.70209. Advance online publication.
41618934
Karas-Kuželički, N., Šmid, A., Tamm, R., Metspalu, A., & Mlinarič-Raščan, I. (2014). From pharmacogenetics to pharmacometabolomics: SAM modulates TPMT activity. Pharmacogenomics, 15(11), 1437–1449.
25303295
Sterner, R. M., Hall, P. L., Matern, D., Black, J. L., & Moyer, A. M. (2024). Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism. The Journal of molecular diagnostics : JMD, 26(11), 988–994.
39182670
Roberts, R. L., Wallace, M. C., Drake, J. M., & Stamp, L. K. (2014). Identification of a novel thiopurine S-methyltransferase allele (TPMT*37). Pharmacogenetics and genomics, 24(6), 320–323.
24710034
UGT2B15
Reference
PMID
Article Link
He, X., Hesse, L. M., Hazarika, S., Masse, G., Harmatz, J. S., Greenblatt, D. J., & Court, M. H. (2009). Evidence for oxazepam as an in vivo probe of UGT2B15: oxazepam clearance is reduced by UGT2B15 D85Y polymorphism but unaffected by UGT2B17 deletion. British journal of clinical pharmacology, 68(5), 721–730.
19916996
Chung, J. Y., Cho, J. Y., Yu, K. S., Kim, J. R., Jung, H. R., Lim, K. S., Jang, I. J., & Shin, S. G. (2005). Effect of the UGT2B15 genotype on the pharmacokinetics, pharmacodynamics, and drug interactions of intravenous lorazepam in healthy volunteers. Clinical pharmacology and therapeutics, 77(6), 486–494.
15961980
Court, M. H., Duan, S. X., Guillemette, C., Journault, K., Krishnaswamy, S., Von Moltke, L. L., & Greenblatt, D. J. (2002). Stereoselective conjugation of oxazepam by human UDP-glucuronosyltransferases (UGTs): S-oxazepam is glucuronidated by UGT2B15, while R-oxazepam is glucuronidated by UGT2B7 and UGT1A9. Drug metabolism and disposition: the biological fate of chemicals, 30(11), 1257–1265.
12386133
Court, M. H., Hao, Q., Krishnaswamy, S., Bekaii-Saab, T., Al-Rohaimi, A., von Moltke, L. L., & Greenblatt, D. J. (2004). UDP-glucuronosyltransferase (UGT) 2B15 pharmacogenetics: UGT2B15 D85Y genotype and gender are major determinants of oxazepam glucuronidation by human liver. The Journal of pharmacology and experimental therapeutics, 310(2), 656–665.
15044558
VKORC1
Reference
PMID
Link to Original Article
1173C>T polymorphism in VKORC1 modulates the required warfarin dose. Pediatr Cardiol
. 2006 Nov-Dec;27(6):685-8
17031720
Wadelius M, Chen LY, Downes K, Ghori J, Hunt S, Eriksson N, Wallerman O, Melhus H, Wadelius C, Bentley D, Deloukas P. Common VKORC1 and GGCX polymorphisms associated with warfarin dose. Pharmacogenomics J. 2005;5(4):262-70
15883587
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Pharmacogenetics-Guided Warfarin Dosing: 2017 Update
28198005
Effect of VKORC1, CYP2C9 and CYP4F2 genetic variants in early outcomes during acenocoumarol treatment
24956252
Influence of CYP2C9 and VKORC1 genotypes on the risk of hemorrhagic complications in warfarin-treated patients: a systematic review and meta-analysis
23932037
Influence of CYP2C9 and VKORC1 on Patient Response to Warfarin: A Systematic Review and Meta-Analysis
22952875
The influence of VKORC1 3730 G > A polymorphism on warfarin dose: reply
23064486
Novel VKORC1 mutations associated with warfarin sensitivity
20579077
Pharmacodynamic resistance to warfarin is associated with nucleotide substitutions in VKORC1
18680536
VKORC1 pharmacogenomics summary
19940803
Warfarin dose and the pharmacogenomics of CYP2C9 and VKORC1 – rationale and perspectives
17161452