• Environmental Mutagens and Carcinogens
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• v.21 no.1
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• pp.9-13
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• 2001

Essential hypertension is considered to be a multifactorial disease that is influenced not only by environmental factors but also by genetic factors. Genes involved in lipoprotein synthesis, modification and metabolism are candidates for essential hypertension. The purpose of this study was to estimate gene frequencies of paraoxonase/arylesterase (PON1) gene in Korean population and investigate the relationship between genotypes of this gene and essential hypertension or cardiovascular risk factors. In order to estimate the genotype frequencies, Alw I RFLP of PON1 gene was used as genetic marker. There were no significant differences in allele and genotype frequencies between normotensives and essential hypertensives, respectively. However, Alw I RELP of PON1 gene were significantly associated with plasma HDL-cholesterol level in Korean population (one-way ANOVA test, p=0.008). Therefore, our result suggest that this RFLP of PON1 gene may be protective marker on cardiovascular disease in Korean population.

• Environmental Mutagens and Carcinogens
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• v.21 no.2
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• pp.72-76
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• 2001

Essential hypertension is a heterogeneously multifactorial disease in which blood pressure is harmfully high without overt cause. Both genetic and environmental factors have been implicated in its etiology. In view of the regulatory role of this peptide in the carbohydrate metabolism and renin-angiotensin system, amylin gene has been proposed to a candidate gene for essential hypertension. Therefore, we scanned the amylin gene for mutations in 133 Korean normotensives and 61 essential hypertensives by single-strand conformational polymorphism, and found a single heterozygous S20G missense mutation. However, no significant difference was observed between normotensives and essential hypertensives in the distribution of allele and genotype frequencies of this mutation at the amylin gene (P>0.05). This finding suggests that S20G missense mutation of the amylin gene are unlikely to contribute to the etiology of essential hypertension in the Korean population.

• Animal cells and systems
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• v.9 no.2
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• pp.95-100
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• 2005

Essential hypertension results from the complex interaction between genetic and environmental factors. A C825T polymorphism of the gene encoding G-protein ${\beta}3$ subunit (GNB3), associated with enhanced G-protein coupled signaling and increased $Na^+-H^+$ exchanger, has been implicated in the development of essential hypertension in several human populations, especially in Caucasian population. We examined the disease relevance of this candidate gene by performing an association study in a study group of Korean heritage. Participants comprised 109 essential hypertensives and 109 normotensives, respectively. Genotyping was performed with PCR-BsaJI restriction digestion method. Observed genotype frequencies were in Hardy-Weinberg equilibrium in all groups. Genotype and allele frequencies did not differ significantly between normotensives and essential hypertensives (P>0.05). However, the serum total cholesterol (TC) and LDL-cholesterol levels were significantly higher in subjects with the TT genotype compared to those with the CC or CT genotypes in normotensives of our study subjects (P<0.05). Thus, these results suggest that GNB3/C825T polymorphism might be significantly associated with abnormality in serum lipid metabolism.

• BMB Reports
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• v.37 no.5
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• pp.552-555
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• 2004

Several studies have demonstrated the importance of angiotensin-converting enzyme (ACE) insertion (I)/deletion (D) polymorphisms in the pathogenesis of hypertension. This study sought to determine the association between the ACE I/D polymorphism and essential hypertension in young Pakistanis. The frequency of the ACE I/D polymorphism was established by a comparative cross-sectional survey of Pakistani patients suffering from essential hypertension and ethnically matched normotensive controls. Samples were collected from tertiary care hospitals in northern Pakistan. Hypertensive individuals were defined as those with a systolic blood pressure > 140 mmHg and/or diastolic blood pressure > 90 mmHg on three separate occasions, or those currently receiving one, or more, anti-hypertensive agents. DNA samples obtained from hypertensive (n=211) and normotensive (n=108) individuals were typed by PCR. The frequency of the ACE I/I genotype was significantly higher in hypertensive patients, aged 20-40 years, than in normotensive controls of the same age group ($\chi^2$ = 4.0, P = 0.041). Whereas no overall significant differences were observed between the I/I, I/D and D/D ACE genotypes (One way ANOVA, F=0.672; P=0.413). The association between the ACE I/I genotype and essential hypertension in individuals aged $\leq$ 40 years suggests that ACE has a role in early onset essential hypertension in Pakistan.

• Environmental Mutagens and Carcinogens
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• v.21 no.2
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• pp.106-112
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• 2001

In view of the effect of factor Ⅶ as a risk factor for essential hypertension, we investigated the length (I/D) polymorphism at position 323 promoter region and exon 8-Msp I RFLP of the human factor Ⅶ gene in the Korean patients with essential hypertension and normal controls. 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 two polymorphic sites. The Msp I RFLP and I/D polymorphism were also significantly associated with plasma triglyceride (TG) levels. Therefore, our results suggest that the significant association between two genetic variations in the human factor Ⅶ gene and plasma TG level may reflect the potential role of human factor Ⅶ gene as one of the genetic components for cardiovascular risk.

• Animal cells and systems
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• v.4 no.1
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• pp.87-90
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• 2000

Essential hypertension is a multifactorial disease, and has been shown to be associated with insulin resistance. The relationship between the genetic variation of the insulin receptor (INSR) gene and essential hypertension In Korean population was investigated by the Nsi 1 restriction fragment length polymorphism (RFLP) pattern of this gene. The observed genotype frequencies of INSR gene were not deviated from those expected for the Hardy-Weinberg equilibrium (HWE), but a significant association was observed between essential hypertension and N1 allele of Nsi 1 RFLP at the INSR gene ($X^2$-test; P<0.05). Moreover, the frequency of N1 allele was significantly different between normotensives and essential hypertensives in subgroups that were not obese ($X^2$-test; P<0.05). These data suggest that the Nsil RFLP of INSR gene may be a useful genetic marker for essential hypertension in Korean population.

• BMB Reports
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• v.35 no.3
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• pp.251-254
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• 2002

The genetic factors that contribute to the development of coronary artery disease (CAD) are poorly understood. It is likely that multiple genes that act independently or synergistically contribute to the development of CAD and the outcome. Recently, an insertion/deletion (I/D) polymorphism of the human angiotensin I-converting enzyme (ACE) gene, a major component of the renin-angiotensin system (RAS), was identified. The association of the ACE gene D allele with essential hypertension and CAD has been reported in the African-American, Chinese, and Japanese populations. However, other studies have failed to detect such an association. It has been suggested that these inconsistencies may be due to the difference in backgrounds of the population characteristics. In the present study, we investigated the I/D polymorphism of the ACE gene in 103 subjects of both sexes, consisting of 59 normal controls and 44 patients with hypertension. The allele and genotype frequency were significantly different between the hypertensive and control groups (p < 0.01). Among the three ACE I/D variants, the DD genotype was associated with the highest value of the mean systolic blood pressure [SBP] and mean diastolic blood pressure [DBP] (p = < 0.05) in men, but not in women. In the overall population, the mean SBP and DBP was highest in DD subjects, intermediate in I/D subjects, and the least in II subjects.

• Toxicological Research
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• v.18 no.3
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• pp.233-240
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• 2002

In view of the effect of $\beta_2$-Adrenergic receptors ($\beta_2$-AR) as a risk factor for essential hypertension, we investigated the Fnu4HI and MnlI RFLPs of $\beta_2$ -AR gene in the Korean patients with essential hypertension and normal controls. There were no significant differences in the allele and genotype of these polymorphisms between normotensive and essential hypertensive subjects. In ethnic comparison, the allele frequencies of these three sites contained Nde I RFLP reported the association with essential hypertension in Korean population previously, were very different from those of other ethnic populations studied. The significant linkage disequilibrium was detected only in hypertensive group between Nde I and Fnu4HI sites. The Fnu4HI RFLP was also significantly associated with plasma triglyceride (TG) level. Therefore, our results suggest that the significant association between Fnu4HI variation in the human $\beta_2$-AR gene and plasma TG level may reflect the potential role of human $\beta_2$-AR gene as one of the genetic components for cardiovascular risk.

• Environmental Mutagens and Carcinogens
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• v.22 no.1
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• pp.30-38
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• 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 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.

• Environmental Mutagens and Carcinogens
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• v.21 no.2
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• pp.95-98
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• 2001

$\beta$$_2$-Adrenergic receptors($\beta$$_2$-AR) contribute to cardiovascular regulation by influencing several functions and a several studies suggest that a decreased function of the $\beta$$_2$-AR may be involved in essential hypertension. We investigated the Arg16Gly mutation of $\beta$$_2$-AR gene, which show enhanced agonist-promoted downregulation of the receptor and yielded different results in terms of association with essential hypertension. We studied the relationship between genetic variation in the $\beta$$_2$-adrenergic receptor gene and hypertension in a Korean population using Nde I restriction fragment length polymorphism (RFLP) analysis. There were significant differences in allele and genotype frequencies between essential hypertensive and normotensive group (Odds ratio(CI) = 1.71 (1.09-2.70)). Therefore, our result suggests that the Nde I RELP of the $\beta$$_2$-adrenergic receptor gene may be useful as a genetic marker in hypertension diagnostics in Korean population.