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Tytuł:
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Profiling of warfarin pharmacokinetics-associated genetic variants: Black Africans portray unique genetic markers important for an African specific warfarin pharmacogenetics-dosing algorithm.
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Autorzy:
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Ndadza A; Pharmacogenomics and Drug Metabolism Research Group, Division of Human Genetics, Department of Pathology & Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Muyambo S; Department of Clinical Pharmacology, College of Health Science, University of Zimbabwe, Harare, Zimbabwe.; Department of Biological Sciences, Faculty of Science and Engineering, Bindura University of Science and Education, Bindura, Zimbabwe.
Mntla P; Department of Cardiology, Sefako Makgatho Health Sciences University and Dr. George Mukhari Hospital, Pretoria, South Africa.
Wonkam A; Pharmacogenomics and Drug Metabolism Research Group, Division of Human Genetics, Department of Pathology & Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Chimusa E; Pharmacogenomics and Drug Metabolism Research Group, Division of Human Genetics, Department of Pathology & Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Kengne AP; Non-Communicable Diseases Research Unit, South African Medical Research Council and University of Cape Town, Cape Town, South Africa.
Ntsekhe M; Division of Cardiology, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Dandara C; Pharmacogenomics and Drug Metabolism Research Group, Division of Human Genetics, Department of Pathology & Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
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Źródło:
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Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2021 Dec; Vol. 19 (12), pp. 2957-2973. Date of Electronic Publication: 2021 Sep 29.
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Typ publikacji:
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Journal Article; Research Support, Non-U.S. Gov't
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Język:
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English
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Imprint Name(s):
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Publication: 2023- : [New York] : Elsevier
Original Publication: Oxford : Blackwell Pub.
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MeSH Terms:
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Pharmacogenetics*
Warfarin*
Algorithms ; Anticoagulants ; Black People ; Cytochrome P-450 CYP2C9/genetics ; Genetic Markers ; Genotype ; Humans ; Vitamin K Epoxide Reductases/genetics
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References:
-
Clin Pharmacol Ther. 2010 May;87(5):572-8. (PMID: 20375999)
Adv Drug Deliv Rev. 2002 Nov 18;54(10):1271-94. (PMID: 12406645)
Pharmacol Ther. 2013 Apr;138(1):103-41. (PMID: 23333322)
J Infect Dis. 2011 Dec 1;204(11):1772-8. (PMID: 21998472)
Pharmacogenet Genomics. 2011 Mar;21(3):130-5. (PMID: 21228733)
BMC Res Notes. 2016 Dec 9;9(1):507. (PMID: 27938396)
Clin Pharmacol Ther. 2010 Apr;87(4):459-64. (PMID: 20072124)
Thromb Res. 2011 Sep;128(3):210-5. (PMID: 21570107)
Anal Biochem. 1987 Sep;165(2):294-9. (PMID: 3425899)
J Pharmacol Exp Ther. 2002 Feb;300(2):399-407. (PMID: 11805197)
OMICS. 2019 Jan;23(1):36-44. (PMID: 30566377)
Pharmacogenomics. 2011 Dec;12(12):1663-70. (PMID: 22118051)
Science. 2009 May 22;324(5930):1035-44. (PMID: 19407144)
Acta Trop. 2016 May;157:54-8. (PMID: 26836270)
Pharmacogenomics. 2011 Jul;12(7):953-63. (PMID: 21635147)
Malays J Med Sci. 2003 Jul;10(2):84-6. (PMID: 23386802)
Pharmacogenet Genomics. 2005 Nov;15(11):779-86. (PMID: 16220110)
Br J Clin Pharmacol. 2013 Jan;75(1):208-16. (PMID: 22616655)
Drug Metab Pharmacokinet. 2017 Jun;32(3):189-191. (PMID: 28427759)
J Appl Genet. 2014 May;55(2):163-71. (PMID: 24425227)
Pharmacogenomics. 2010 Aug;11(8):1095-103. (PMID: 20712527)
N Engl J Med. 2013 Dec 12;369(24):2294-303. (PMID: 24251363)
J Cardiovasc Pharmacol. 2016 Jan;67(1):86-92. (PMID: 26355760)
Mol Diagn Ther. 2014 Feb;18(1):73-83. (PMID: 24092646)
Pharmacol Ther. 1997;73(1):67-74. (PMID: 9014207)
OMICS. 2019 Mar;23(3):152-166. (PMID: 30883300)
J Thromb Haemost. 2021 Dec;19(12):2957-2973. (PMID: 34382722)
Blood. 2005 Oct 1;106(7):2329-33. (PMID: 15947090)
Pharmacogenet Genomics. 2009 Oct;19(10):800-12. (PMID: 19752777)
Drug Metab Pers Ther. 2017 Mar 1;32(1):39-47. (PMID: 28231062)
Eur J Clin Pharmacol. 2011 Nov;67(11):1119-30. (PMID: 21590310)
Pharmacogenet Genomics. 2016 Jan;26(1):44-50. (PMID: 26513304)
Int J Clin Pharmacol Ther. 2017 Feb;55(2):126-132. (PMID: 27117036)
Medicine (Baltimore). 2017 Jan;96(2):e5658. (PMID: 28079798)
Lancet. 1999 Feb 27;353(9154):717-9. (PMID: 10073515)
Clin Pharmacol Ther. 2004 Mar;75(3):204-12. (PMID: 15001972)
Expert Opin Pharmacother. 2008 Apr;9(5):677-86. (PMID: 18345947)
Chest. 1998 Nov;114(5 Suppl):445S-469S. (PMID: 9822057)
Clin Chim Acta. 2013 Oct 21;425:34-6. (PMID: 23872171)
Blood. 2015 Jul 23;126(4):539-45. (PMID: 26024874)
N Engl J Med. 2013 Dec 12;369(24):2283-93. (PMID: 24251361)
Nat Genet. 2001 Apr;27(4):383-91. (PMID: 11279519)
Drug Metab Dispos. 2005 Jul;33(7):884-7. (PMID: 15833928)
Pharmacogenetics. 2001 Oct;11(7):597-607. (PMID: 11668219)
Ann Emerg Med. 2002 Mar;39(3):258-67. (PMID: 11867978)
J Am Coll Cardiol. 2011 Feb 1;57(5):612-8. (PMID: 21272753)
Thromb Res. 2010 Sep;126(3):e206-10. (PMID: 20615525)
Trends Pharmacol Sci. 2009 Jul;30(7):375-86. (PMID: 19540002)
N Engl J Med. 2009 Feb 19;360(8):753-64. (PMID: 19228618)
Pharmacogenomics J. 2007 Apr;7(2):99-111. (PMID: 16983400)
Nature. 2004 Feb 5;427(6974):537-41. (PMID: 14765194)
Int J Gen Med. 2015 Jul 31;8:231-42. (PMID: 26261423)
Clin Pharmacol Ther. 2007 Aug;82(2):197-203. (PMID: 17361129)
Hum Genomics. 2011 May;5(4):265-82. (PMID: 21712189)
Clin Ther. 2007 Mar;29(3):427-37. (PMID: 17577464)
Clin Pharmacol Ther. 1974 Apr;15(4):424-30. (PMID: 4821443)
Pharmacogenomics J. 2004;4(1):40-8. (PMID: 14676821)
Pharmacogenomics. 2020 Jan;21(2):101-110. (PMID: 31854268)
Trop Med Int Health. 2005 Dec;10(12):1271-3. (PMID: 16359408)
Clin Pharmacol Ther. 2020 Jun;107(6):1420-1433. (PMID: 31869433)
Lancet. 2013 Aug 31;382(9894):790-6. (PMID: 23755828)
Clin Pharmacol Ther. 2008 Sep;84(3):326-31. (PMID: 18305455)
Drug Metab Dispos. 1989 May-Jun;17(3):265-70. (PMID: 2568906)
J Med Life. 2015 Apr-Jun;8(2):171-5. (PMID: 25866574)
Chem Res Toxicol. 1992 Jan-Feb;5(1):54-9. (PMID: 1581537)
Front Pharmacol. 2018 May 23;9:542. (PMID: 29875668)
J Clin Pathol. 1992 Aug;45(8):704-6. (PMID: 1401182)
Clin Pharmacol Ther. 1974 Aug;16(2):348-54. (PMID: 4605176)
Thromb Haemost. 2013 Jun;109(6):1045-50. (PMID: 23571513)
Eur J Clin Pharmacol. 2005 Mar;61(1):15-8. (PMID: 15785959)
Pharmacotherapy. 2018 Jun;38(6):588-596. (PMID: 29393514)
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Grant Information:
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Medical Research Council (MRC) of South Africa (SAMRC); 113540 National Research Foundation, NRF
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Contributed Indexing:
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Keywords: South Africa; Southern Africans; Zimbabwe; pharmacogenetics; pharmacokinetics; warfarin
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Substance Nomenclature:
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0 (Anticoagulants)
0 (Genetic Markers)
5Q7ZVV76EI (Warfarin)
EC 1.14.13.- (Cytochrome P-450 CYP2C9)
EC 1.17.4.4 (VKORC1 protein, human)
EC 1.17.4.4 (Vitamin K Epoxide Reductases)
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Entry Date(s):
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Date Created: 20210812 Date Completed: 20211208 Latest Revision: 20230829
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Update Code:
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20240105
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PubMed Central ID:
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PMC9543705
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DOI:
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10.1111/jth.15494
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PMID:
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34382722
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Background: Warfarin dose variability observed in patients is attributed to variation in genes involved in the warfarin metabolic pathway. Genetic variation in CYP2C9 and VKORC1 has been the traditional focus in evaluating warfarin dose variability, with little focus on other genes.
Objective: We set out to evaluate 27 single nucleotide polymorphisms (SNPs) in the CYP2C cluster loci and 8 genes (VKORC1, ABCB1, CYP2C9, CYP2C19, CYP2C8, CYP1A2, CYP3A4, and CYP3A5) involved in pharmacokinetics of warfarin.
Patients/methods: 503 participants were recruited among black Africans and Mixed Ancestry population groups, from South Africa and Zimbabwe, and a blood sample taken for DNA. Clinical parameters were obtained from patient medical records, and these were correlated with genetic variation.
Results: Among black Africans, the SNPs CYP2C rs12777823G>A, CYP2C9 c.449G>A (*8), CYP2C9 c.1003C>T (*11) and CYP2C8 c.805A>T (*2) were significantly associated with warfarin maintenance dose. Conversely, CYP2C9 c.430C>T (*2), CYP2C8 c.792C>G (*4) and VKORC1 g.-1639G>A were significantly associated with maintenance dose among the Mixed Ancestry. The presence of CYP2C8*2 and CYP3A5*6 alleles was associated with increased mean warfarin maintenance dose, whereas CYP2C9*8 allele was associated with reduced warfarin maintenance dose.
Conclusion: African populations present with a diversity of variants that are important in predicting pharmacogenetics-based warfarin dosing in addition to those reported in CYP2C9 and VKORC1. It is therefore important, to include African populations in pharmacogenomics studies to be able to identify all possible biomarkers that are potential predictors for drug response.
(© 2021 The Authors. Journal of Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis.)