Environmental Mutagens and Carcinogens (한국환경성돌연변이발암원학회지)

Korean Environmental Mutagen Society (한국환경성돌연변이발암원학회)
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Association between Genetic Variation in the Human Antithrombin III Gene and Essential Hypertension in Korean Population

  • Shin, Jung-Hee (School of Biological Science, Seoul National University) ;
  • Kang, Byung-Yong (Seoulin Bioscience Institute, Seoulin Biosicence, Co., Ltd.) ;
  • Kim, Ki-Tae (Seoulin Bioscience Institute, Seoulin Biosicence, Co., Ltd.) ;
  • Lee, Kang-Oh (Department of Life Science, Sahmyook University) ;
  • Kim, Jae-Hyoun (Dept. of Health Science, College of Natural Science, Dongduk Womens University) ;
  • Om, Ae-Son (College of Human Ecology, Hanyang University) ;
  • Oh, Sang-Duk (Hanyang University, College of Physical Education) ;
  • Lee, Chung-Choo (School of Biological Science, Seoul National University, Laboratory of Biology, Gachon Medical School)
  • Published : 2002.03.01
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Abstract

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 HDL- cholesterol 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.

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