• 한국환경성돌연변이발암원학회지
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• 제21권2호
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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.

• BMB Reports
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• 제37권5호
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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.

• Genomics & Informatics
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• 제6권3호
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• pp.110-116
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• 2008

Blood pressure refers to the force exerted by circulating blood on the walls of blood vessels, and chronical elevation of blood pressure is known as hypertension. Although hypertension is affected by genetic and environmental factors, the genetic background of hypertension is not fully understood. One of the candidate genetic factors, Prostaglandin-endoperoxide synthase 2 (PTGS2), is a membrane-bound enzyme, catalyzing the conversion of arachidonic acid to prostaglandin, and recently SNPs of PTGS2 gene was associated with hypertension in Japanese population. Therefore the association of PTGS2 polymorphisms was investigated with blood pressure in healthy Korean subjects, 470 unrelated individuals randomly selected from Ansung and Ansan cohorts. The 25 SNPs of PTGS2 gene were identified by the sequencing analysis of 24 Korean samples. Among identified polymorphisms, three SNPs (rs689466, -1329A>G; rs5275, +6365T>C; rs4648308, +8806G> A) were selected for further association analysis, and rs689466 located in promoter region was associated with blood pressure as well as triglyceride level in the blood. By in silico analysis, rs689466 locates in v-Myb transcription factor binding site, and the v-Myb site disappears when the SNP is changed from A to G nucleotide. Individuals with A/G and G/G genotype in rs689466 have higher blood pressure than those with A/A genotype, and the regression p-value is 0.008 for systolic and 0.004 for diastolic blood pressure. In summary, the PTGS2 polymorphism (rs689466) is associated with blood pressure in Asian populations based on this and Japanese studies, shedding light on it as a genetic risk marker of hypertension.

• Animal cells and systems
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• 제8권1호
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• pp.41-47
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• 2004

The kallikrein-kinin system affects regulation of blood pressure, and genes encoding for the components of this system have been considered as good candidates for hypertension. To evaluate the relationship between genetic polymorphisms of candidate genes involved in this system and hypertension, we performed case-control studies using genetic markers in Korean normotensives and hypertensives, respectively. By association study, there was a marginal association with hypertension in AA genotype distribution of A1789G polymorphism in the hKLK1 gene (P=0.0754). Thus, this genetic polymorphism may weakly contribute to the susceptibility to hypertension in Koreans. We also observed that significant linkage disequilibrium exists among three polymorphic sites in the hKLK1 gene studied, suggesting that the three genetic polymorph isms can be useful as genetic markers in clinical association studies. Further studies using larger sample sizes and more genetic markers will be needed to clarify genetic influence of kallikrein-kinin system for hypertension.

• Clinical and Experimental Pediatrics
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• 제52권2호
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• pp.187-193
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• 2009

목 적 : Adiponectin은 대사 증후군에서 중요한 역할을 하는 물질이며, 비만, 2형 당뇨, 관동맥 질환 등에서 그 수치가 감소하는 것으로 알려져 있다. 고혈압과 혈청 adiponectin치의 관계는 여러 저자에 의하여 발표되었으나 아직 논란의 여지가 남아있는 상태이다. 우리는 낮은 adiponectin치가 청소년 고혈압과 어떤 관계가 있는지, 또 영향을 끼치는 기전이 유전적인지 혹은 생물학적인 것인지 알고자 유전자 다형성 분석을 하였다. 방 법 : 16에서 17세 사이의 40명의 고혈압 청소년과 20명의 대조군 청소년을 대상으로 각 군의 혈청 adiponectin, insulin, renin, aldosterone, ACE를 측정하여 비교하였다. cIMT와 PWV도 측정하였다. PCR법으로 adiponectin I164T 유전자 다형성을 조사하였다. 결 과 : 고혈압 청소년군에서 cIMT와 PWV가 의미있게 높았다. 혈청 insulin, renin, aldosterone치도 고혈압군에서 의미있게 높았다. 두 군간에 adiponectin치는 의미있는 차이를 보이지 않았다. 본 연구에 참여한 청소년에서는 TC genotype은 발견되지 않았고 모두 TT genotype을 보였다. 결 론 : 결론적으로 adiponectin치는 고혈압 청소년 군에서나 정상군에서나 차이가 없었다. 두 군에서 유전적인 다형성도 보이지 않았다. 더 큰 규모의 연구가 필요할 것으로 생각된다.

• 한국환경성돌연변이발암원학회지
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• 제21권2호
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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.

• 한국환경성돌연변이발암원학회지
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• 제22권1호
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• pp.12-21
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• 2002

Genetic polymorphisms of the renin-angiotensin system (RAS) have been associated with hypertension in various ethnic groups, but no relation between these polymorphisms and hypertension has yet been systematically evaluated. To assess the relationship between allelic variation of RAS genes and hypertension, we performed the case-control studies using genetic markers in Korean normotensives and hypertensives. The allele and genotype frequencies of RAS genes in Korean population were not significantly different between normotensives and hypertensives. To investigate the distribution of allele frequencies among various populations, the data obtained in this study were compared to those in other ethnic groups studied previously. Except for T174M polymorphism of angiotensinogen (AGT) gene, allele frequencies of RAS genes were different among racial groups. The reason for these differences may be due to the difference in various genetic or environmental background or due to the effects by various sample size studied. In addition, it can be emphasized that carefully designed studies are required to minimize the ethnic heterogeneity of the case and control populations.

• 한국환경성돌연변이발암원학회지
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• 제21권2호
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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.

• Animal cells and systems
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• 제4권1호
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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.

• Toxicological Research
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• 제22권2호
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• pp.69-74
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• 2006

Hypertension leads to major health problems in many industrialized countries, and multiple etiologic factors are involved in the pathogenesis of this disorder. The genetic components of the natriuretic peptide system might be involved in the pathogenesis of hypertension. In this regard, the atrial natriuretic peptide (ANP) gene has been proposed as a candidate hypertension gene. Therefore, we investigated the G1837A and C-664G polymorphisms of the ANP gene in 143 Korean normotensives and 118 hypertensives. There were no significant differences in the genotype and allele frequencies between the two groups. Although the frequencies in each of these polymorph isms were not significantly different between normotensives and hypertensives, our results provide additional ethnic information for linkage analysis and associated studies of this disorder with cardiovascular disease.