NGHIÊN CỨU VỀ TỔ HỢP GEN VKORC1 VÀ CYP2C9 TRÊN BỆNH NHÂN HUYẾT KHỐI TĨNH MẠCH NÃO ĐIỀU TRỊ WARFARIN

Abstract

Acenocumarol, a widely-prescribed oral vitamin K antagonist drug, is a highly effective, low-cost anticoagulant, but with the narrow therapeutic index and large dose response variations. These variations are markedly influenced by genetic and non-genetic factors. Recently, studies have shown that acenocumarol doses are effected by genetic polymorphisms of VKORC1 and CYP2C9, enzymes being responsible for warfarin metabolism. Our study was conducted to determine the relationship between clinical characteristics and polymorphisms of VKORC1 –1639G>A, CYP2C9*2, CYP2C9*3 with acenocumarol dose requirements. Method: Genotyping was performed to identify VKORC1 –1639G>A, CYP2C9 polymorphisms using real-time PCR and sequencing. Evaluation of these genotypes in relation to acenocumarol dose requirements. Result: VKORC1 –1639AA was the most common genotype of VKORC1 allele among the study samples with a rate of 78.1%, followed by VKORC1 –1639GA at a rate of 21.9%. In CYP2C9 variant, 96.9% and 3.1% of subjects carried CYP2C9*1/*1 and CYP2C9*1/*3, respectively. No detection of VKORC1 –1639GG and CYP2C9*2 allele. In addition, no statistically significant differences were found between clinical features, VKORC1, CYP2C9 polymorphism and acenocumarol stable dose in patients with cerebral venous thrombosis.