title: Association between VKORC1 gene polymorphisms and ischemic cerebrovascular disease in Chinese Han population.
abstract: 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) = 1.137~2.288), while 1639A-1173T was associated with decreased risk of ICVD (OR = 0.620, 95 % CI = 0.437~0.880). 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.
authors.affiliation: Department of Cell Biology & Medical Genetics, Basic Medical College of Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Zhang
authors.forename: Linyan
authors.initials: L
authors.lastname: Yang
authors.forename: Qingchuan
authors.initials: Q
authors.lastname: Feng
authors.forename: Yujia
authors.initials: Y
authors.lastname: Fan
authors.forename: Hong
authors.initials: H
authors.lastname: Zheng
authors.forename: Ying
authors.initials: Y
authors.lastname: He
mesh_terms: D000368:Aged; D002545:Brain Ischemia / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D064417:Vitamin K Epoxide Reductases / Q000235:genetics*
chemical_list: C578523:VKORC1 protein, human; D064417:Vitamin K Epoxide Reductases