Department of Pharmacology, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka.
Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka.
Pharmacogenomics. 2022 Nov;23(17):917-923. doi: 10.2217/pgs-2022-0026. Epub 2022 Oct 26.
To describe the diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans. Genotype data were filtered out from an anonymized database of 400 Sri Lankans, and minor allele frequencies (MAF) were calculated. Variants of , and genes were studied. Overall, and alleles had MAFs of 2.25% (95% CI: 0.80-3.70) and 10.38% (95% CI: 7.50-13.50), respectively. and alleles had MAFs of 0.13% (95% CI: 0-0.74) and 2.50% (95% CI: 0.97-4.03), respectively. MAFs of 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 variant rs2108622 was 45.63% (95% CI: 40.87-50.63). 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.
描述影响斯里兰卡人群华法林代谢的药物基因组学变异的多样性。从 400 名斯里兰卡人的匿名数据库中筛选出基因型数据，并计算了次要等位基因频率 (MAF)。研究了 、 和 基因的变异。总体而言， 和 等位基因的 MAF 分别为 2.25%（95%CI：0.80-3.70）和 10.38%（95%CI：7.50-13.50）。 和 等位基因的 MAF 分别为 0.13%（95%CI：0-0.74）和 2.50%（95%CI：0.97-4.03）。 变体 rs7294、rs9934438、rs8050894 和 rs2884737 的 MAF 分别为 47.25%（95%CI：42.36-52.14）、10.13%（95%CI：7.28-13.22）、9.88%（95%CI：7.06-12.94）和 4.88%（95%CI：2.86-7.14）。 变体 rs2108622 的 MAF 为 45.63%（95%CI：40.87-50.63）。与其他人群相比，一些研究的变异在斯里兰卡人群中的频率有显著差异，这些差异可能导致华法林剂量需求的变异性。
