Translational Medicine Research Center, School of Pharmaceutical Sciences, Xiamen University, Xiamen, Fujian Sheng, China.
Clinical Research Laboratory, Xiamen's Maternal and Child Health Hospital, Teaching Hospital of Xiamen University, Xiamen, Fujian Sheng, China.
Sci Rep. 2017 Dec 12;7(1):17379. doi: 10.1038/s41598-017-17731-1.
Warfarin is a commonly prescribed and effective oral anticoagulant. Genetic polymorphisms associated with warfarin metabolism and sensitivity have been implicated in the wide inter-individual dose variation that is observed. Several algorithms integrating patients' clinical characteristics and genetic polymorphism information have been explored to predict warfarin dose. However, most of these algorithms could explain only over half of the variation in a warfarin maintenance dose, suggesting that additional genetic factors may exist and need to be identified. Here, a drug absorption, distribution, metabolism and excretion (ADME) Core Panel Kit-based pharmacogenetic study was performed to screen for warfarin dose-associated SNP sites in Han-Chinese population patients taking warfarin therapy, and the screen was followed by pyrosequencing-based validation. Finally, we confirmed that the common variant rs9923231 in VKORC1 and two novel genes, SLC15A2 (rs1143671 and rs1143672) and SLCO1B3 (rs4149117 and rs7311358), are associated with the warfarin maintenance dose. As has been shown for those carriers with the variant rs9923231 in VKORC1, it was suggested that those subjects with homozygous minor alleles in those four SNPs should take a lower warfarin dose than those carrying the wild type alleles. Together with the established predictor rs9923231 in VKORC1, those four novel variants on SLC15A2 and SLCO1B3 should be considered as useful biomarkers for warfarin dose adjustment in clinical practice in Han-Chinese populations.
华法林是一种常用且有效的口服抗凝剂。与华法林代谢和敏感性相关的遗传多态性与广泛的个体间剂量差异有关,这种差异是观察到的。已经探索了几种整合患者临床特征和遗传多态性信息的算法来预测华法林剂量。然而,这些算法中的大多数只能解释华法林维持剂量变化的一半以上,这表明可能存在其他遗传因素,需要进一步确定。在这里,进行了基于药物吸收、分布、代谢和排泄(ADME)核心试剂盒的药物遗传学研究,以筛选汉族服用华法林治疗的患者中与华法林剂量相关的 SNP 位点,并通过焦磷酸测序进行验证。最后,我们证实 VKORC1 中的常见变体 rs9923231 和两个新基因 SLC15A2(rs1143671 和 rs1143672)和 SLCO1B3(rs4149117 和 rs7311358)与华法林维持剂量相关。对于 VKORC1 中具有变体 rs9923231 的携带者,表明这四个 SNP 中纯合子的杂合子等位基因的个体应该比携带野生型等位基因的个体服用更低剂量的华法林。与 VKORC1 中已建立的预测因子 rs9923231 一起,SLC15A2 和 SLCO1B3 上的这四个新变体应该被认为是汉族人群临床实践中调整华法林剂量的有用生物标志物。