Prothrombin T165M과 Factor V R485K 유전자다형성과 관상동맥질환과의 관련성

Abstract

BACKGROUND AND OBJECTIVES: An increased coagulation activity and an impaired antithrombotic function are associated with coronary artery disease (CAD). The purpose of this study was to evaluate whether the genetic variations in the prothrombin and factor V genes are associated with CAD.

SUBJECTS AND METHODS: One hundred twenty eight patients having CAD and 168 healthy controls participated in this study. 98 of the CAD patients, who were not taking anticoagulant drugs, and 132 controls were analyzed for their prothrombin (PT) and factor V (FV) coagulant activity. The genotype was determined by the SNP-IT method.

RESULTS: The genetic variation for the PT G2210A and FV R506Q (Leiden) was not detected in our standard samples. The genotype frequency of the T165M polymorphism in the PT gene of the CAD were not different from those of the control group. However, logistic regression analysis showed that 165MM genotype of the PT 165M polymorphism is associated with CAD independently (Odds ratio 1.82, 95% confidence interval; 1.04-3.16). Subjects with 165MM homozygote had higher PT activity than those with the 165T carrier in the both groups (p<0.05). The prevalence of the RR+RK genotype in the factor V R485K polymorphism was significantly higher in CAD group than in the control group (92% in CAD vs. 82% in control, p=0.012). From the multivariate analysis, the odds ratio of the 485K carrier was 2.48 for CAD (95% confidence interval: 1.87-5.66), in relation to the control subjects. No significant influence was seen of the factor V R485K polymorphism on corresponding mean factor V activity in control group.

CONCLUSION: The PT 165MM genotype was linked with elevated levels of PT activity. The PT T165M and FV R485K polymorphisms were associated with CAD in Koreans.