目的探讨血管紧张素转化酶(ACE)基因多态性与汉族扩张型心肌病的相关性。方法收集2005年以来101例汉族扩张型心肌病病人及体检科105例汉族健康体检者血液DNA,利用PCR扩增技术检测ACE基因缺失/插入多态性,记录基因分型结果并进行统计学分析。结果 ACE三种基因型II、ID、DD在扩张型心肌病患者中的分布频率分别为20%、48%、32%,在汉族正常对照中的分布频率分别为29%、50%、21%。等位基因I与D在扩张型心肌病患者中的分布频率为44.5%、55.5%,在对照组中的分布频率为53.8%、46.2%。统计学分析结果显示基因型分布频率及等位基因频率分布在两组间均具有显著差异(P<0.01)。结论汉族人群中ACE基因多态性与汉族扩张型心肌病具有显著关联性,等位基因D可能是扩张型心肌病的易感基因。 Objective To investigate the relationship between angiotensin converting enzyme (ACE) gene polymorphism and dilated cardiomyopathy in Han population. Methods A total of 101 Han Han patients with dilated cardiomyopathy and 105 healthy Han nationality subjects from 2005 to 2008 were enrolled in this study. ACE gene deletion / insertion polymorphism was detected by PCR amplification. The genotyping results were recorded and statistically analyzed . Results The distribution frequencies of ACE, ID, DD in patients with dilated cardiomyopathy were 20%, 48%, 32% respectively, and were 29%, 50%, 21% respectively in Han normal controls . The frequencies of alleles I and D in patients with dilated cardiomyopathy were 44.5% and 55.5%, respectively, and those in the control group were 53.8% and 46.2% respectively. Statistical analysis showed that genotype distribution frequency and allele frequency distribution between the two groups were significantly different (P <0.01). Conclusion There is a significant association between ACE gene polymorphism and dilated cardiomyopathy in Han population. The allele D may be a susceptibility gene for dilated cardiomyopathy.