J Genet Med.  1998 Mar;2(1):27-30.

Association Analysis of a Polymorphism of the Angiotensin I-Converting Enzyme Gene and Angiotensin II Type 1 Receptor Gene in Korean Population

  • 1Genetic Laboratory of Premedical Course, Kon-Kuk University College of Medicine, Korea.


Previously, we made a study report on the genotype disturbution and the gene frequency of angiotensin I-converting enzyme (ACE) in Korean population, and on the association between hypertension and genetic variance of ACE. This time, we have investigated a rapid mismatch-PCR/RFLP assays for the variant of the angiotensin II type 1 receptor (AT1R) gene (an A C transversion at position 1166 of AT1R gene), a mutation which may interact with the ACE polymorphism in the determining of risk of myocardial infarction. The genotype distributions of Koreans' angiotensin II type I receptor gene were AA (66.3%):AC (28.1%):CC (5.6%), thus the AA genotype was most numerous, and the allele frequency was A:C = 0.803:0.197. Genotype distributions were shown as AA (76.8%):AC (20.9%):CC (2.3%), the allele frequency was A:C = 0.872:0.128 in the male group, and AA (47.4%):AC (41.0%):CC (11.6%), A:C = 0.679:0.321 in the female group. Differences were highly significant between the male and female groups (p<0.0001). Genotype distributions between angiotensin II type I receptor gene and angiotensin converting enzyme gene showed that there is no significance between AT1R genotypes and ACE genotypes in total subjects (p>0.05).


Angiotensin I-converting enzyme; Angiotensin II type 1 receptor; Genotype; Genetic polymorphism
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