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

ABSTRACT

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 AC = 0.8030.197. Genotype distributions were shown as AA (76.8%)AC (20.9%)CC (2.3%), the allele frequency was AC = 0.8720.128 in the male group, and AA (47.4%)AC (41.0%)CC (11.6%), AC = 0.6790.321 in the female group. Differences were highly significant between the male and female groups (p0.05).