Department of Pharmacology, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, 17100, Turkey.
Mol Biol Rep. 2012 Dec;39(12):11017-22. doi: 10.1007/s11033-012-2004-2. Epub 2012 Oct 14.
The aim was to investigate the prevalence of VKORC1 and CYP2C9 genotypes in patients requiring anticoagulant therapy in two different region's populations of Turkey. The recent cohort included 292 patients that needed anticoagulant therapy, and who had a history of deep vein thrombosis and/or pulmonary artery thromboembolism. Genomic DNA was isolated from peripheral blood samples and the StripAssay reverse hybridization or Real Time PCR technique was used for genotype analysis. Genotypes for CYP2C9 were detected as follows: 165 (56.5 %) for CYP2C91/1, 67 (23.0 %) for CYP2C91/2, 25 (8.6 %) for CYP2C91/3, 9 (3.0 %) for CYP2C92/2, 21 (7.2 %) for CYP2C92/3, 5(1.7 %) for CYP2C93/3 for CYP2C9 and the allele frequencies were: 0.723 for allele1, 0.182 for allele2 and 0.095 for allele*3 respectively. Genotypes for VKORC1 were detected as follows: 64 (21.9 %) for GG, 220 (75.4 %) for GA and 8 (2.7 %) for AA alleles. The G allele frequency was detected as 0.596, and the A allele frequency was 0.404. The VKORC1 1639 G>A and CYP2C9 mutation prevalence and allele frequency of the current results from two different populations (Sivas and Canakkale) showed similarly very variable profiles when compared to the other results from the Turkish population.
目的在于研究土耳其两个不同地区需要抗凝治疗的患者的 VKORC1 和 CYP2C9 基因型的流行情况。最近的队列包括 292 名需要抗凝治疗且有深静脉血栓形成和/或肺动脉血栓栓塞病史的患者。从外周血样本中提取基因组 DNA，并使用 StripAssay 反向杂交或实时 PCR 技术进行基因型分析。CYP2C9 基因型的检测结果如下：CYP2C91/1 为 165 例（56.5%），CYP2C91/2 为 67 例（23.0%），CYP2C91/3 为 25 例（8.6%），CYP2C92/2 为 9 例（3.0%），CYP2C92/3 为 21 例（7.2%），CYP2C93/3 为 5 例（1.7%），CYP2C9 的等位基因频率分别为：0.723 为等位基因1，0.182 为等位基因2，0.095 为等位基因*3。VKORC1 基因型的检测结果如下：GG 为 64 例（21.9%），GA 为 220 例（75.4%），AA 为 8 例（2.7%）。G 等位基因频率为 0.596，A 等位基因频率为 0.404。与来自土耳其其他人群的结果相比，当前来自两个不同人群（锡瓦斯和恰纳卡莱）的结果表明，VKORC1 1639 G>A 和 CYP2C9 突变的流行率和等位基因频率具有非常不同的特征。
