Factor XII 46C → T Gene Polymorphism in Chilean Subjects with Coronary Artery Disease and Controls

Abstract

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.

<i>TP53</i> Codon 72 Polymorphism Is Associated with Coronary Artery Disease in Chilean Subjects

“…However, the results are contradictory. In Chile, CAD is one of the main causes of death [14] , but information related to the genetic basis of CAD in Chile is insufficient [15,16] . Thus, the aim of the present study was to evaluate the possible association between Pro72Arg gene polymorphism of the TP53 gene and CAD in Chilean subjects.…”

The Functional Promoter Polymorphism of the Coagulation Factor XII Gene is not Associated With Peripheral Arterial Disease

“…8 Despite its unequivocal functionality, the role of this polymorphism for cardiovascular disease is currently unclear. Some studies reported no association of the F12 promoter variant with CAD, 9,10, 15,16 whereas other studies found an increased risk of CAD in carriers of a F12 -4T variant. 17,18 The complexity of this issue was further increased by a report of a protective effect of the homozygous TT genotype against acute coronary syndrome.…”

Το Κληρονομικό Αγγειοοίδημα Στην Ελλάδα Και Ο Ρόλος Των Γενετικών Βλαβών Γονιδίων Που Κωδικοποιούν Ένζυμα Της Οδού Καλλικρεϊνης -Βραδυκινίνης Στην Κλινική Έκφρασή Του

“…191 Στο ίδιο πλαίσιο και άλλες μελέτες δε βρήκαν κάποια συσχέτιση του πολυμορφισμού αυτού με τον κίνδυνο εμφράγματος του μυοκαρδίου. [198][199][200][201] Παράλληλα βρέθηκε συσχέτιση του Τ αλληλίου με την εμφάνιση ισχαιμικού εγκεφαλικού επεισοδίου, 202 αλλά και με τον κίνδυνο θανάτου και την πιθανότητα μετάπτωσης του ισχαιμικού επεισοδίου σε αιμορραγικό μετά από θρομβόλυση. 203 Αρχικά μελέτες έδειξαν ότι ο πολυμορφισμός rs1801020, και μάλιστα ο γονότυπος ΤΤ, σχετίζεται με θρομβωτική νόσο, 204,205 αν και σε επόμενες μελέτες δεν υπήρξε συσχέτιση.…”