Association of Coagulation Factors VIII/XI/XIII Polymorphisms With Coagulation Factor Activities and Deep Vein...

The study aims at investigating the effects of coagulation factors VIII/XI/XIII polymorphisms in coagulation factor activities and deep vein thrombosis (DVT). A total of 130 patients with history of artificial joint replacement surgery were recruited, including 65 patients with DVT (cases) and 65 patients without DVT (controls). Cases and controls had comparable age, sex, and body mass index. Activities of VIII/XI and XIII were, respectively, detected by 1 phase anticoagulation method and microtitrimetry. Polymorphisms of VIII rs1800291 (3591C>G), XI rs2289252 (25264C>T), and XIII rs5985 (103G>T) were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Activities of VIII/XI were significantly increased in cases than in controls (P < 0.001 for VIII, P = 0.024 for XI). Activity of XI was significantly increased by 11.11% in CT + TT mutant type (25264C>T) compared with wild-type CC (95% confidence interval (CI), 2.28-19.95). In univariate analysis, incidence of DVT for CT mutant was 2.41-fold compared with wild-type CC (95% CI, 1.16-5.03). T allele had 1.83-fold increased risk of DVT than C allele (95% CI, 1.06-3.14). In multivariate analysis, incidence of DVT for CT + TT mutant type was 2.39-fold compared with wild type (95% CI, 1.07-5.35). Distributions of VIII gene 3951C>G and genotypes were not significant between groups (both P > 0.05). The mutation rate of VIII gene 103G>T was low in study population (0.77%) and was not significant between groups. XI 25264C>T genotype is significantly associated with XI activity. T mutation of this locus significantly increases XI activity and is a risk factor for DVT.