Multi-site Investigation of Genetic Determinants of Warfarin Dose Variability in Latinos

Clin Transl Sci. 2021 Jan;14(1):268-276. doi: 10.1111/cts.12854. Epub 2020 Sep 8.

Abstract

We conducted a multi-site investigation of genetic determinants of warfarin dose variability in Latinos from the U.S. and Brazil. Patients from four institutions in the United States (n = 411) and Brazil (n = 663) were genotyped for VKORC1 c.-1639G> A, common CYP2C9 variants, CYP4F2*3, and NQO1*2. Multiple regression analysis was used in the U.S. cohort to test the association between warfarin dose and genotype, adjusting for clinical factors, with further testing in an independent cohort of Brazilians. In the U.S. cohort, VKORC1 and CYP2C9 variants were associated with lower warfarin dose (β = -0.29, P < 2.0 × 10-16 ; β = -0.21, P = 4.7 × 10-7 , respectively) whereas CYP4F2 and NQO1 variants were associated with higher dose (β = 0.10, P = 2 × 10-4 ; β = 0.10, P = 0.01, respectively). Associations with VKORC1 (β = -0.14, P = 2.0 × 10-16 ), CYP2C9 (β = -0.07, P = 5.6 × 10-10 ), and CYP4F2 (β = 0.03, P = 3 × 10-3 ), but not NQO1*2 (β = 0.01, P = 0.30), were replicated in the Brazilians, explaining 43-46% of warfarin dose variability among the cohorts from the U.S. and Brazil, respectively. We identified genetic associations with warfarin dose requirements in the largest cohort of ancestrally diverse, warfarin-treated Latinos from the United States and Brazil to date. We confirmed the association of variants in VKORC1, CYP2C9, and CYP4F2 with warfarin dose in Latinos from the United States and Brazil.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Anticoagulants / administration & dosage*
  • Biological Variation, Population / genetics*
  • Brazil
  • Cohort Studies
  • Cytochrome P-450 CYP2C9 / genetics
  • Cytochrome P-450 CYP2C9 / metabolism
  • Cytochrome P450 Family 4 / genetics
  • Cytochrome P450 Family 4 / metabolism
  • Dose-Response Relationship, Drug
  • Female
  • Gene Frequency
  • Hispanic or Latino / genetics*
  • Hispanic or Latino / statistics & numerical data
  • Humans
  • Male
  • Middle Aged
  • NAD(P)H Dehydrogenase (Quinone) / genetics
  • NAD(P)H Dehydrogenase (Quinone) / metabolism
  • Pharmacogenomic Testing / statistics & numerical data
  • Pharmacogenomic Variants
  • Thromboembolism / drug therapy*
  • United States
  • Vitamin K Epoxide Reductases / genetics
  • Vitamin K Epoxide Reductases / metabolism
  • Warfarin / administration & dosage*

Substances

  • Anticoagulants
  • Warfarin
  • CYP2C9 protein, human
  • Cytochrome P-450 CYP2C9
  • Cytochrome P450 Family 4
  • CYP4F2 protein, human
  • VKORC1 protein, human
  • Vitamin K Epoxide Reductases
  • NAD(P)H Dehydrogenase (Quinone)
  • NQO1 protein, human