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目的探讨维生素K环氧化物还原酶复合物1(VKORC1)基因多个单核苷酸位点基因多态性对中国汉族人华法林维持剂量的影响。方法应用多聚酶链反应-限制性内切酶长度片段多态性(PCR-RFLP)方法对125例长期口服华法林患者的VKORC1-1639G/A、1173C/T、497T/G位点多态性进行检测,其他资料通过临床随访获得。结果 125例中国汉族人检出VKORC1-1639AA(87.2%)、AG(12%)、GG(0.8%)型的频率分别与1173TT、TC、CC型完全相同。VKORC1-1639A/G(1173T/C)的AA(TT)型患者所需华法林维持剂量低于AG(TC)/GG(CC)型[(2.65±0.90)mg/dvs.(4.88±2.12)mg/d](P<0.01);497T/G基因多态性则对华法林维持剂量影响不大。结论 VKORC1-1639或1173位点基因多态性与华法林维持剂量关系密切,且AA基因型或TT基因型占多数可能是中国汉族人群所需华法林剂量普遍较低的重要原因。
Objective To investigate the effects of multiple single nucleotide polymorphisms of vitamin K epoxide reductase complex 1 (VKORC1) gene on warfarin maintenance dose in Chinese Han population. Methods Polymorphisms of VKORC1-1639G / A, 1173C / T and 497T / G in 125 long-term oral warfarin patients were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) For testing, other information obtained through clinical follow-up. Results The frequencies of VKORC1-1639AA (87.2%), AG (12%) and GG (0.8%) were detected in 125 Chinese Han nationality patients respectively. The frequency of VKORC1-1639AA was exactly the same as that of 1173TT, TC and CC. Warfarin maintenance dose was lower in AA (TT) patients with VKORC1-1639A / G (1173T / C) than in AG (TC) / GG (CC) [2.65 ± 0.90 mg / dvs ) mg / d] (P <0.01). The polymorphism of 497T / G had no significant effect on warfarin maintenance dose. Conclusion The polymorphism of VKORC1-1639 or 1173 locus is closely related to the maintenance dose of warfarin, and the majority of AA genotypes or TT genotypes may be the reason for the generally low warfarin dose in Chinese Han population.