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Diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans.

Priyanga RanasingheNirmala Dushyanthi SirisenaVidarsha SenadeeraGayani AnandagodaVajira H W Dissanayake
Published in: Pharmacogenomics (2022)
<b>Aims:</b> To describe the diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans. <b>Materials &amp; methods:</b> Genotype data were filtered out from an anonymized database of 400 Sri Lankans, and minor allele frequencies (MAF) were calculated. Variants of <i>CYP2C9</i>, <i>VKORC1</i> and <i>CYP4F2</i> genes were studied. <b>Results:</b> Overall, <i>CYP2C9*2</i> and <i>CYP2C9*3</i> alleles had MAFs of 2.25% (95% CI: 0.80-3.70) and 10.38% (95% CI: 7.50-13.50), respectively. <i>CYP2C9*11</i> and <i>CYP2C9*14</i> alleles had MAFs of 0.13% (95% CI: 0-0.74) and 2.50% (95% CI: 0.97-4.03), respectively. MAFs of <i>VKORC1</i> variants rs7294, rs9934438, rs8050894 and rs2884737 were 47.25% (95% CI: 42.36-52.14), 10.13% (95% CI: 7.28-13.22), 9.88% (95% CI: 7.06-12.94) and 4.88% (95% CI: 2.86-7.14), respectively. MAF of <i>CYP4F2</i> variant rs2108622 was 45.63% (95% CI: 40.87-50.63). <b>Conclusion:</b> Compared with other populations, the frequencies of some studied variants were significantly different in Sri Lankans, and these are likely to account for variability in warfarin dosage requirements.
Keyphrases
  • copy number
  • atrial fibrillation
  • venous thromboembolism
  • direct oral anticoagulants
  • gene expression
  • dna methylation
  • clinical decision support
  • protein kinase
  • contrast enhanced
  • genome wide identification