Associations of rs1883832 and rs4810485 polymorphisms of CD40 gene with Myocardial Infarction in the Tunisian Population.

CONTEXT: Cluster of differentiation 40 (CD40), and its ligand CD40L, are major co-stimulatory molecules whose interactions are important in both cellular and humoral immunity, and has been suggested to play a role in the pathogenesis of acute coronary syndrome.

OBJECTIVE: The aim of this study was to examine the association of CD40 polymorphisms (-1 C > T (rs1883832) and 945G > T (rs4810485)) and myocardial infarction (MI), and to test the association of CD40 gene haplotypes with MI in Tunisians.

MATERIALS AND METHODS: Three hundred and fifty MI patients and 301 apparently healthy controls were included in the study. The polymorphisms of CD40 were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).

RESULTS: There were significant differences in the genotype and allele frequencies of CD40 gene -1 C > T (rs1883832) polymorphism between cases and controls. Stratifying according to gender, the association between the TT genotype and MI was statistically significant in males, only. Haplotype analysis revealed that the C-T and T-G haplotypes were associated with an increased risk of MI (p = 0.012 and p < 0.001, respectively).

CONCLUSION: Our work showed a significant association between the -1 C > T (rs1883832) polymorphism of the CD40 gene and MI in the Tunisians.