Association between Genetic Variation in the Human Antithrombin III Gene and Essential Hypertension in Korean Population
Jung Hee Shin, Byung Yong Kang, Ki Tae Kim, Kang Oh Lee, Jae Hyoun Kim, Ae Son, Sang Duk Oh, Chung Choo Lee · 한국환경성돌연변이·발암원학회지 · 2002
In view of the effect of antithrombin III on essential hypertension, we investigated the 5' untranslated exon 1 length (I/D) polymorphism and intron 5'-DdeI RFLP of the human antithrombin Ⅲ gene in the Korean patients with essential hypertension. There were no significant differences in the allele, genotype and haplotype frequencies of these polymorphisms between normotensive and essential hypertensive subjects. The significant linkage disequilibrium was however, detected between I/D polymorphism and Dde I RFLP. The I/D polymorphism was also significantly associated with BMI, total cholesterol (TC) and HDLcholesterol levels, while DdeI polymorphism with age and BMI. Therefore, our results suggest that the significant association between the genetic polymorphisms in the antithrombin Ⅲ gene and variable cardiovascular risk factors may reflect the potential role of human antithrombin Ⅲ gene in cardiovascular function.