Objective: To investigate the potential role of IL-1A gene variations in pathogenesis of coronary artery disease (CAD) with familial history.
Materials and methods: We investigated the IL-1A-889C>T polymorphism in 335 patients with CAD and 335 healthy individuals for case-control association analysis. In this study, we also investigated the heritability of the susceptible allele from 130 trio families with CAD-affected offspring. We performed genotyping using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
Results: The IL-1A-889 C/T polymorphism was significantly associated with CAD in patients compared with healthy controls. The minor allele T at -889 was more prevalent in cases vs controls. The results of a transmission disequilibrium test revealed a significant association between the IL-1A-889 polymorphism and CAD. The mutant genotype CT+TT was significantly associated with high levels of high-sensitivity C-reactive protein (CRP) and other relative markers from patients with CAD.
Conclusion: For the first time in the literature, to our knowledge, we demonstrate a significant association of the IL-1A-889 functional polymorphism with CAD.
Keywords: Interleukin-1; association; coronary artery disease; heredity; polymorphism.
Copyright© by the American Society for Clinical Pathology (ASCP).