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Genome-wide association study of warfarin maintenance dose in a Brazilian sample
Univ Toronto, Dept Anthropol, Mississauga, ON L5L 1C6, Canada..
Univ Fed Rio Grande do Sul, Dept Genet, BR-90046900 Porto Alegre, RS, Brazil..
Inst Nacl Canc, Div Pharmacol, Rio De Janeiro, Brazil..
Univ Toronto, Dept Anthropol, Mississauga, ON L5L 1C6, Canada..
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2015 (English)In: Pharmacogenomics (London), ISSN 1462-2416, E-ISSN 1744-8042, Vol. 16, no 11, 1253-1263 p.Article in journal (Refereed) Published
Abstract [en]

Aim: Extreme discordant phenotype and genome-wide association (GWA) approaches were combined to explore the role of genetic variants on warfarin dose requirement in Brazilians. Methods: Patients receiving low (<= 20 mg/week; n = 180) or high stable warfarin doses (>= 42.5 mg/week; n = 187) were genotyped with Affymetrix Axiom (R) Biobank arrays. Imputation was carried out using data from the combined 1000 Genomes project. Results: Genome-wide signals (p <= 5 x 10(-8)) were identified in the well-known VKORC1 (lead SNP, rs749671; OR: 20.4; p = 1.08 x 10(-33)) and CYP2C9 (lead SNP, rs9332238, OR: 6.8 and p = 4.4 x 10(-13)) regions. The rs9332238 polymorphism is in virtually perfect LD with CYP2C9*2 (rs1799853) and CYP2C9*3 (rs1057910). No other genome-wide significant regions were identified in the study. Conclusion: We confirmed the important role of VKORC1 and CYP2C9 polymorphisms in warfarin dose.

Place, publisher, year, edition, pages
2015. Vol. 16, no 11, 1253-1263 p.
Keyword [en]
1000 Genomes Project, Brazilians, CYP2C9, extreme discordant phenotypes, genome-wide association study, VKORC1, warfarin
National Category
Pharmacology and Toxicology
URN: urn:nbn:se:uu:diva-264342DOI: 10.2217/pgs.15.73ISI: 000361142000005OAI: oai:DiVA.org:uu-264342DiVA: diva2:859959
Available from: 2015-10-09 Created: 2015-10-09 Last updated: 2016-02-19

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