Department of Cell Biology & Medical Genetics, Basic Medical College of Zhengzhou University, Zhengzhou, 450052, China.
J Mol Neurosci. 2014 Jun;53(2):166-70. doi: 10.1007/s12031-014-0259-x. Epub 2014 Feb 19.
The vitamin K epoxide reductase subunit 1 gene (VKORC1) plays a key role in vitamin K recycling, and there is a close association between VKORC1 gene single-nucleotide polymorphisms (SNPs) and the required dose of warfarin, an anticoagulant. However, the association between VKORC1 SNPs and ischemic cerebrovascular disease (ICVD) has not been defined. This case-control study involved 370 patients with ICVD and 408 healthy individuals (controls) from Chinese Han population. Two VKORC1 gene SNPs (1639A/G and 1173T/C) were genotyped by PCR-RFLP method. The G allele frequencies of the 1639A/G locus and C allele frequencies of the 1173T/C locus were higher in the ICVD group than in the control group (p = 0.014 and p = 0.008, respectively). Haplotype analysis showed that 1639G-1173C was associated with an increased risk of ICVD (odds ratio (OR) = 1.163, 95 % confidence interval (CI) = 1.1372.288), while 1639A-1173T was associated with decreased risk of ICVD (OR = 0.620, 95 % CI = 0.4370.880). Our findings suggested that individuals carrying the 1639G or 1173C allele might be at increased risk for ICVD. Furthermore, the 1639G-1173C haplotype was a risk factor for ICVD, and 1639A-1173T was a protective factor in Chinese Han population.
维生素 K 环氧化物还原酶亚基 1 基因（VKORC1）在维生素 K 循环中起着关键作用，VKORC1 基因单核苷酸多态性（SNP）与华法林（一种抗凝剂）所需剂量密切相关。然而，VKORC1 SNP 与缺血性脑血管病（ICVD）之间的关联尚未确定。这项病例对照研究纳入了 370 例 ICVD 患者和 408 名来自汉族人群的健康个体（对照组）。采用 PCR-RFLP 方法检测 2 个 VKORC1 基因 SNP（1639A/G 和 1173T/C）。ICVD 组 1639A/G 位点的 G 等位基因频率和 1173T/C 位点的 C 等位基因频率均高于对照组（p=0.014 和 p=0.008）。单体型分析显示，1639G-1173C 与 ICVD 风险增加相关（比值比（OR）=1.163，95%置信区间（CI）=1.1372.288），而 1639A-1173T 与 ICVD 风险降低相关（OR=0.620，95%CI=0.4370.880）。我们的研究结果表明，携带 1639G 或 1173C 等位基因的个体可能增加 ICVD 风险。此外，1639G-1173C 单体型是 ICVD 的危险因素，而 1639A-1173T 是汉族人群的保护因素。
