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

目的 研究中国西南地区汉族特发性扩张型心肌病(idiopathic dilated cardiomyopathy,IDCM)患者白细胞介素-2(interleukin-2,IL-2)基因启动子区-384T/G、-475A/T、-631G/A多态性与IDCM的相关性.方法 采用聚合酶链反应-限制性片段长度多态性技术分析中国西南地区无血缘关系的109例汉族IDCM患者和210名正常对照者IL-2基因启动子区-384、-475、-631位点的单核苷酸多态性.结果 IL-2基因启动子区-384位点TT+TG基因型频率和T等位基因频率在IDCM患者中升高,与正常对照组相比差异有统计学意义(分别为95.41%vs.87.62%,P=0.042和72.94%vs.64.52%,P=0.039);而IL-2基因-631位点与-475位点基因型和等位基因频率在IDCM组与正常对照组之间无差异.结论 IL-2基因启动子区单核苷酸多态性与人类IDCM相关,IL-2基因启动子区-384位点T等位基因可能会增加发生IDCM的危险性.

The association of IL-2 promoter polymorphisms with idiopathic dilated cardiomyopathy in Chase Han population

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 t0 analyze single nucleotide polymorphisms of the IL-2 gene at positions-384,-475,and -631 in 109 IDCM patients and 210 tmrelated healthy subjects in Han population of Southwestern China.Results Compared to healthy controls,the frequency of TT and TG genotypes(o.9541 in patients vs.0.8762 in controls,P=0.042) and the T al1ele(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 positions -475 and -631. Conclusion These data indicate the association of/LL-2 gene sinsle nueleotide polymorphisms with human IDCM.Additionally,the T allele of the IL-2 gene promoter at position -384 may increase the risk of developing IDCM.