中文摘要：

目的探讨POR基因多态性与华法林维持剂量的相关性。方法共纳入185例中国汉族人工心脏机械瓣膜置换术患者，采用Sequenom MassARRAY System检测VKORC1及POR相关SNPs，采用PCR-RFLP法检测CYP2C9＊3基因型。采用ANOVA或t检验考察目的SNPs与患者华法林维持剂量的关系。结果在CYP2C9＊1＊1携带者中，PORrs17685T等位基因携带者（TT型和CT型）华法林维持剂量明显高于CC型携带者（3．50±1．07）mg·d-1 vs（3．14±0．94）mg·d-1，P=0．03。在CYP2C9＊1＊1及VKORC1rs9934438GA／GG携带者中，PORrs17685T等位基因携带者（TT型和CT型）的华法林维持剂量明显高于cc型携带者（4．76±0．90）mg·d-1 vs（4．08±1．03）mg·d-1，P=0．04。未发现PORrs2868177与华法林维持剂量存在相关性。结论在中国汉族人工心脏机械瓣膜置换术患者中，PORrs17685T突变与华法林剂量上调相关，该基因型检测将有助于指导华法林的临床合理应用。

英文摘要：

Aim To explore the effect of genetic poly- morphisms of POR on the stable warfarin maintenance doses in Han Chinese patients receiving mechanical heart valve replacement. Methods The association between POR gene polymorphisms and warfarin doses of 185 Han Chinese patients were investigated through ANOVA or t test. SNPs of POR and VKORC1 were detected by Sequenom DNA MassArray genotyping method. CYP2C9 ＊ 3 was genotyped by polymerase chain reaction-restriction fragment length polymorphism method （PCR-RFLP）. Patients＇ clinical characteris- tics, INR value and daily dose were obtained from their medical records. Statistical analysis was performed by SPSS 21.0 software. Results No mutant carriers of POR rs17148944, POR rs56256515 and rs72553971 were found in this study. The genotype frequencies of other SNPs were in accordance with Hardy-Weinberg equilibrium. In the group of patients with CYP2C9 ＊ 1 ＊ 1, the mutant type carriers （T carriers ） of POR rs17685 had a significantly higher dose than CC carriers（3.50± 1.07） mg . d-1 vs （3.14 ±0.94） mg . d-1, p = 0. 03. Also, in the group of patients with CYP2C9＊ 1 ＊ 1 and VKORC1 rs9934438 G allele carriers, the mutant type carriers （T carriers ） of POR rs17685 had a significantly higher dose than CC carriers（4.76±0.90） mg. d-1 vs （4.08 ±1.03） mg. d-1 ,p = 0. 04. No significant difference was found in different genotypes of POR rs2868177. Conclusion These results illustrate that POR rs17685 T carrier is closely associated with a higher warfarin maintenance dose, suggesting that this SNP is useful for clinical guidance of warfarin.