Polymorphism FXII 46C>T and cardiovascular risk: additional data from Spanish and Tunisian patients

Georgios Athanasiadis, Esther Esteban, Magdanela Vidal, Robert Torres, Raoudha Bahri, Pedro Moral
2009 BMC Research Notes  
Previous studies showed an association between Coagulation Factor XII 46C>T polymorphism and variation in FXII plasma levels, as 46C>T seems to affect the translation efficiency. Case-control studies in Spanish samples indicated that genotype T/T is an independent risk factor for venous thrombosis, ischemic stroke and acute coronary artery disease. In this study, we tried to reaffirm the importance of 46C>T in two samples from Spain and Tunisia. Findings: A Transmission Disequilibrium Test
more » ... based on 101 family trios from Barcelona with one offspring affected by ischemic heart disease and a classical case-control study based on 76 patients with IHD and 118 healthy individuals from North and Centre-South Tunisia were conducted. Subjects were genotyped for 46C>T and data were analyzed accordingly, revealing no association in any of the two samples (TDT: P = 0.16, relative risk 1.17; case-control study: P = 0.59, odds ratio 1.36). Conclusion: The results suggest that 46C>T is not a risk factor for ischemic heart disease in any of the two analyzed samples and therefore the polymorphism seems not to be a universal risk factor for cardiovascular diseases.
doi:10.1186/1756-0500-2-154 pmid:19646235 pmcid:PMC2732920 fatcat:l64e6qcqtjce3epnbt33akd5yq