高原地区藏族ACE基因I/D多态性与脑出血的关系研究

Association of ACE gene I/D polymorphism with intracerebral hemorrhage in Tibetan patients of plateau area

目的探讨血管紧张素转化酶(ACE)基因插入/缺失(I/D)多态性与高原地区世居藏族脑出血的相关性。方法收集青海地区高原世居藏族脑出血患者52例(男27例,女25例)为病例组,与之年龄、性别、居住地相匹配的同期体检的世居健康藏族51例(男28例,女23例)为对照组,收集一般资料。利用聚合酶链式反应(PCR)检测所有样本的ACE基因I/D多态性。结果病例组ACE基因型:DD型9例(17.31%),II型21例(40.38%),ID型22例(42.31%);等位基因频率:D等位基因38.46%,I等位基因61.54%;对照组ACE基因型:DD型10例(19.61%),II型19例(37.26%),ID型22例(43.13%);等位基因频率:D等位基因41.18%,I等位基因58.82%。两组间基因型、等位基因比较无显著性差异(基因型χ~2为0.14,等位基因χ~2为0.16,P>0.05)。结论ACE基因I/D多态性与青海高原地区藏族脑出血无相关性,ACE基因I/D多态性可能不是高原世居藏族人群脑出血的遗传易感因素。

Objective To investigate the association of angiotensin converting enzyme（ACE） gene insertion/deletion（I/D） polymorphism with intracerebral hemorrhage in Tibetan patients of plateau area.Methods We collected 52 Tibetan patients（27 males,25 females） with cerebral hemorrhage in Qinghai province as case group,andthe control group was the 51 cases of healthy subjects（28 males,23 females）,who did physical examination in the same period,and their age,gender and place of residence were the same as case group.And collected detailed information of all subjects,including laboratory data.PCR-RFLP method was used to detect genotype of ACE in all samples.Results The distribution of ACE genotypes in the case group was as follow：DD was 9 cases（17.31%）,II was 21 cases（40.38%）,ID was 22 cases（42.31%）;the alleles frequency were：D38.46%,I 61.54%.And the control group：DD was 10 cases（19.61%）,II was19 cases（37.26%）,ID was 22 cases（43.13%）;the alleles frequency were：D41.18%,I 58.82%.The frequencies of ACE genotypes and the allels revealed no significant difference between the two groups（genotype：20.14,allel：20.16,P〉0.05）.Conclusion The ACE gene I/D polymorphism is not related to the cerebral hemorrhage in Tibetan patients of plateau area,and it may not be a genetic predisposing factor for cerebral hemorrhage in Tibetan population.