血管紧张素转换酶基因、血管紧张素原基因M235T变异与高原肺水肿的关系  

Analysis of Association of Polymorphisms of Angiotensin Converting Enzyme Gene and Angiotensinogen Gene with High Altitude Pulmonary Edema

作　　者：格桑罗布 岑维浚[2] 刘国仗[1] 邱长春[1] 陈勇[2] 仁旦 庄兰萍[2] 卓玛次仁[2] 平措扎西[2] 史丽华 

机构地区：[1]中国医学科学院 [2]西藏自治区人民医院

出　　处：《中国循环杂志》2000年第1期29-31,共3页Chinese Circulation Journal

基　　金：西藏自治区科委赞助项目 !1 998(2 ) 79

摘　　要：目的 :研究血管紧张素转换酶 ( ACE)基因的插入 /缺失 ( I/ D)多态性、血管紧张素原 ( AGT)基因 M2 3 5 T变异与高原肺水肿 ( HAPE)的相关性以及二者对 HAPE易感性的预测价值。　　方法 :对 5 1例 HAPE患者 (为 HAPE组 )、5 4例正常对照者 (为对照组 )采用多聚酶链式反应方法检测 ACE的 I/ D多态性 ,采用多聚酶链式反应 /限制性长度片段多态性检测 AGT M2 3 5 T变异性。　　结果 :ACE基因型 II、ID、DD在 HAPE组和对照组频率分布分别为 12、3 2、7和 8、3 1、15 ,其中 I、D等位基因频率在两组分别为 0 .5 4 9、0 .4 5 1和 0 .4 3 5、0 .5 65 ,两组之间无显著性差异。AGT M2 3 5 T基因型 MM、MT、TT在 HAPE组和对照组中频率分布分别为 7、2 4、2 0和 4、2 3、2 7,其中 M、T等位基因频率在两组分别为 0 .3 73、0 .62 7和 0 .2 87、0 .713 ,两组之间也无显著性差异。　　结论 :本研究结果提示 ACE基因 I/ D多态性及 AGT M2 3 5 T变异性不适合作为 HAPE易感性的预测标记 ,并且在HAPE的发生机制中不起主要作用。Objective:To investigate whether the polymorphisms of the angiotensin converting enzyme(ACE) gene and angiotensinogen(AGT) gene are associated with high altitude pulmonary edema(HAPE). Methods:A case control study was carried out in 51 patients with HAPE and 54 normal subjects.The insertion / deletoin(I/D) polymorphism of the ACE gene and the methionine→threonine variant at position 235 (M235T) of the AGT gene were determined by the polymerase chain reaction and PCR/restriction fragment length polymorphism analysis,respectively. Results:Frequencies for II,ID and DD genotypes of ACE gene were 12,32 and 7 in HAPE subjects,and 8,31 and 15 in controls,respectively.Derived allele frequencies for I and D alleles were 0 549 and 0 451 in the HAPE subjects and 0 435 and 0 565 in the controls,respectively.There were no significant difference between these two groups.Frequencies for MM,MT and TT genotypes of AGT gene were 7,24 and 20 in HAPE subjects,and 4,23 and 27 in controls,respectively.Derived allele frequencies for M and T alleles were 0 373 and 0 627 in the HAPE subjects and 0 287 and 0 713 in the controls,respectively.There were no significant difference between these two groups. Conclusion:Our data indicate that the ACE polymorphism and AGT M235T variant do not appear to contribute materially to the pathogenesis of HAPE among Chinese,and would not be as a genetic markers for HAPE susceptibility.

关 键 词：肺水肿 ACE 血管紧张素原 

分 类 号：R541.63[医药卫生—心血管疾病]