Leung Allen, Huang Chih-Kang, Muto Riho, Liu Yinxian, Pan Qiulu
Molecular Pathology Laboratory, Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA.
Diagn Mol Pathol. 2007 Sep;16(3):184-6. doi: 10.1097/PDM.0b013e3180467811.
The annual incidence of venous thromboembolism is approximately 117 per 100,000 persons or about 1 per 1000 person-years, with the majority of the disease occurring in the older age groups. Factor V Leiden gene (most common) and the prothrombin G20210A gene mutation are inherited mild to moderate risk factors for hypercoagulability. The anticoagulant warfarin requires close monitoring of the patient's prothrombin time, normalized as the international normalization ratio. Patients with either Cytochrome P-450 CYP2C92, CYP2C93, or VKORC12 genotype (c.-1639G>A) require significantly reduced doses, and are at a higher risk of serious bleeding. Thirty-five samples in total, 15 with Factor V Leiden, 18 with prothrombin G2021A mutation, and 2 with both were analyzed for 2C92, 2C93, and VKORC1 (-1639) allele variants by using the Invader CYP2C9 and VKORC1 polymorphism analysis kit. Eight with CYP2C92 C/T, 2 with CYP2C93 A/C, 5 with VKORC1 (-1639) A/A, and 22 with VKORC1 (-1639) G/A genotypes or 29 out of 35 (83%) samples analyzed were found with CYP2C92 C/T, CYP2C93 A/C, VKORC1 (-1639) G/A, or/and VKORC1 (-1639) A/A genotypes. CYP2C92 C/T, CYP2C9*3 A/C, VKORC1 (-1639) G/A genotyping might be necessary for patients with Factor V Leiden and/or prothrombin G2021A mutation before warfarin anticoagulant therapy.
静脉血栓栓塞的年发病率约为每10万人中117例，即每1000人年约1例，该病大多数发生在老年人群体中。因子V莱顿基因（最常见）和凝血酶原G20210A基因突变是遗传性的轻度至中度高凝风险因素。抗凝药物华法林需要密切监测患者的凝血酶原时间，并将其标准化为国际标准化比值。细胞色素P - 450 CYP2C92、CYP2C93或VKORC12基因型（c.-1639G>A）的患者需要显著降低剂量，且严重出血风险更高。总共35个样本，其中15个有因子V莱顿基因，18个有凝血酶原G2021A突变，2个同时有这两种突变，使用Invader CYP2C9和VKORC1多态性分析试剂盒对这些样本分析2C92、2C93和VKORC1（-1639）等位基因变体。发现8个样本有CYP2C92 C/T、2个有CYP2C93 A/C、5个有VKORC1（-1639）A/A，以及22个有VKORC1（-1639）G/A基因型，即35个分析样本中有29个（83%）具有CYP2C92 C/T、CYP2C93 A/C、VKORC1（-1639）G/A或/和VKORC1（-1639）A/A基因型。对于有因子V莱顿基因和/或凝血酶原G2021A突变的患者，在进行华法林抗凝治疗前，CYP2C92 C/T、CYP2C9*3 A/C、VKORC1（-1639）G/A基因分型可能是必要的。
