IL-2基因多态性与中国汉族人群特发性扩张型心肌病的相关性研究

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 =0.042) and the T allele (0.7294 in patients vs. 0.6452 in controls, p =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 position -475 and -631. Conclusions 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.