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  • Title: Heritability of IL-1A Gene Promoter Polymorphism in Patients With Coronary Artery Disease: A Trio-Family Study.
    Author: Haroon J, Hussain S, Javed Q.
    Journal: Lab Med; 2015; 46(1):20-5. PubMed ID: 25617388.
    Abstract:
    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.
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