血管紧张素原基因和血管紧张素转换酶基因多态性与高血压

Polymorphisms of angiotensinogen gene and angiotensin-converting enzyme gene in hypertension

目的 研究中国人群中血管紧张素原 (AGT)基因单核苷酸多态性 (SNP)及血管紧张素转换酶 (ACE)基因插入 /缺失多态与高血压病的关系。方法 在 3 4 5例高血压病患者与 2 0 6名血压正常人中采用PCR RFLP法检测AGT基因A 2 0C ,A 6G和M 2 3 5T的多态性 ,用PCR法检测ACE基因 16内含子Alu片段插入 /缺失多态 ,同时用EM算法进行两位点连锁不平衡分析。结果 在M 2 3 5T和A 2 0C ,M 2 3 5T和A 6G ,A 2 0C和A 6G位点观察到了连锁不平衡 (P <10 - 4)。病例 对照检验显示T2 3 5等位基因频率在高血压组中高于对照组 ,且高血压病患者中ACE (DD +ID) +AGT TT2 3 5基因型频率高于对照组。结论 受检人群中AGT基因各多态频率处于两两连锁不平衡 ,但AGT基因即T2 3 5位点以隐性作用方式与高血压关联 ,T2 3 5等位基因与ACE

Objective To investigate th e association of the genetic polymorphisms of angiotensinogen (AGT) gene and angiotensin-converting enzyme(ACE)with the risk of essential hypertension in Chinese people Methods A-20C, A-6G and M235T polymorphisms of AGT gene were analyzed in 345 patients with documented essential hypertension and 206 control subjects by using PCR-RFLP (restriction fragment length polymorphism) PCR was carried out to detect the insertion/deletion (I/D) polymorphism in intron 16 of ACE gene EM algorithm was then used for pairwise linkage disequilibrium test Results Linkage disequilibrium between M235T and A-20C, between M235T and A-6G, between A-20C and A-6G was observed (P<10 -4 ) The case-control analysis revealed that the frequency of T235 is significantly higher in hypertensives than in control subjects A significantly higher frequency of the ACE-(DD+ID)+AGT-TT235 genotype were observed in hypertensives Conclusion The distribution of different polymorphisms of AGT gene is in pairwise linkage disequilibrium in tested people, but the recessive T235 allele may be associated with hypertension, and T235 allele may have a synergistic effect on risk of hypertension with ACE-D allele