Factor XII 46C --> T gene polymorphism in Chilean subjects with coronary artery disease and controls.

Objective: To investigate the possible association between factor XII (F12) gene variant and the presence of coronary artery disease (CAD) in Chilean subjects.

Methods: A total of 112 unrelated patients with a diagnosis of CAD confirmed by angiography (33-74 years old) and 107 healthy controls (30-68 years old) were included in this study. PCR-RFLP was used to evaluate the 46C --> T polymorphism of the F12 gene.

Results: The genotype distribution for the 46C --> T variant of the F12 gene in CAD patients (CC: 41%, CT: 39%, TT: 20%) and controls (CC: 38%, CT: 48%, TT: 14%) was comparable (p = 0.365). Similarly, the allelic frequency was equivalent (p = 0.833). The odds ratio for CAD associated with the mutated 46T allele was 1.06 (95% CI = 0.72-1.56) confirming the absence of an association.

Conclusion: This study showed that the F12 46C --> T gene polymorphism is not related to CAD in the studied population. However, this study is limited by its sample size and the use of controls not matched by age and sex.