title: Heritability of IL-1A Gene Promoter Polymorphism in Patients With Coronary Artery Disease: A Trio-Family Study.
abstract: OBJECTIVE
  To investigate the potential role of IL-1A gene variations in pathogenesis of coronary artery disease (CAD) with familial history.
  
  
  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.
  
  
  CONCLUSIONS
  For the first time in the literature, to our knowledge, we demonstrate a significant association of the IL-1A-889 functional polymorphism with CAD.
authors.affiliation: Department of Biochemistry, Quaid-i-Azam University, Islamabad Pakistan.
authors.forename: Javeria
authors.initials: J
authors.lastname: Haroon
authors.affiliation: Department of Biochemistry, Quaid-i-Azam University, Islamabad Pakistan Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan sabirhussain@comsats.edu.pk.
authors.forename: Sabir
authors.initials: S
authors.lastname: Hussain
authors.affiliation: Department of Biochemistry, Quaid-i-Azam University, Islamabad Pakistan.
authors.forename: Qamar
authors.initials: Q
authors.lastname: Javed
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003324:Coronary Artery Disease / Q000235:genetics*; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D053582:Interleukin-1alpha / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D053582:Interleukin-1alpha
keywords: Interleukin-1; association; coronary artery disease; heredity; polymorphism