Objective: To investigate whether -384T/G, -475A/T, and -631G/A polymorphisms in the interleukin-2(IL-2) gene promoter region are associated with idiopathic dilated cardiomyopathy(IDCM) in Southwestern Chinese Han population.
Methods: Polymerase chain reaction and restriction fragment length polymorphism techniques were used to analyze single nucleotide polymorphisms of the IL-2 gene at positions -384, -475, and -631 in 109 IDCM patients and 210 unrelated healthy subjects in Han population of Southwestern China.
Results: Compared to healthy controls, the frequency of TT and TG genotypes (0.9541 in patients vs. 0.8762 in controls, P was 0.042) and the T allele (0.7294 in patients vs. 0.6452 in controls, P was 0.039) at position -384, were significantly increased in IDCM patients, whereas no differences of genotype or allele frequencies were found between IDCM patient and healthy control groups at positions -475 and -631.
Conclusion: These data indicate the association of IL-2 gene single nucleotide polymorphisms with human IDCM. Additionally, the T allele of the IL-2 gene promoter at position -384 may increase the risk of developing IDCM.