• Toxicological Research
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• 제20권1호
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• pp.49-53
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• 2004

The genetic basis of hypertension is complex, and has been considered to be associated with the dopamine D2 receptor gene (DD2R). Because association studies using the candidate gene approach may provide important clues regarding the pathogenesis of hypertension and establish basis for further study, we performed the association study on the relationship between genetic polymorphisms in the DD2R gene and hypertension in Koreans. Eighty nine patients with hypertension and 86 age-matched subjects with normal blood pressure were enrolled. Genomic DNA was extracted from peripheral blood leukocytes. PCR-RFLP analysis was performed to detect the three polymorphic Taq I sites in the DD2R gene. There were no significant differences in genotype, allele and haplotype distributions of any polymorphisms in the DD2R gene between two groups, respectively (P>0.05), although significant linkage disequilibriums among these polymorphic sites were detected by pair-wise analysis (P<0.05). Therefore, our negative result suggest that the three Taq I RFLPs in the DD2R gene were not significantly associated with hypertension in Koreans.

• 한국환경독성학회:학술대회논문집
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• 한국환경독성학회 2002년도 추계국제학술대회
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• pp.165-165
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• 2002

Hypertension is considered to be caused by a complicated combination of genetic and environmental factors. Atrial natriuretic peptide (ANP) has been to suppress renin activity and inhibit the synthesis and release of aldosterone. Therefore, Abnormalities of this peptide caused by genetic variation may be influence the blood pressure. The aim of present study was to examine the relationship between hypertension and Sca I RFLP of ANP gene in Korean population. The genotype distribution of this RFLP was significantly different between normotensives and hypertensives (P<0.05). However, this genetic marker was not significantly associated with any anthropometric parameters or plasma lipid concentrations in our study group. Therefore, our result suggest that Sca I RFLP of ANP gene may be useful as genetic marker in the ethiology of hypertension in Korean population, independent of any cardiovascular risk. factors studied.

• 대한한의학회지
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• 제24권4호
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• pp.102-112
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• 2003

The homozygous deletion allele of the angiotensin converting enzyme gene (ACF/DD), homozygous threonine allele of the angiotensinogen gene (AGN/TT), and the 4 allele of the apolipoprotein E gene (apoE/4) are reported to be associated with ischemic heart disease. Ischemic cerebrovascular disease (ICVD) is another atherosclerotic disease, and the effects of these polymorphisms on ICVD have been confusing. In this study, I investigated whether ACF/DD, AGN/TT, and apoE/4 genotypes are associated with ICVD and whether genetic risk is enhanced by the effect of one upon another. I ascertained these genotypes in patients with ICVD (n=121) diagnosed by brain computed tomography. Control subjects for the ICVD were randomly selected from subjects matched for age, gender, and history of hypertension with patients. Frequency of ACF/DD genotype was somewhat higher in the patients with ICVD than in the controls (18％ vs. 15％). Incidence of ICVD was higher in subjects with the apoE/4/4 genotype than in the other genotypes (50％ vs. 27-29％). Incidence of ICVD was much higher in subjects with the AGN/TT genotype than in AGN/MM genotype (36％ vs. 17％). Furthermore, the AGN/TT genotype greatly increased the relative risk for ICVD in the subjects with ACF/DD genotype (80.0％ vs. 20.0％, P=0.089). Finally, incidence of ICVD was much higher in the subjects with both apoE/2/4 and AGN/TT genotype than in the other genotypes (83.3％ vs. 16.7％, P=O.095). These results suggest that AGN/TT enhances the risk for ICVD associated with ACF/DD and apoE/2/4.

• 대한의생명과학회지
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• 제18권4호
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• pp.377-383
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• 2012

Recent genome-wide association studies (GWAS) have identified a number of common variants associated with blood pressure homeostasis and hypertension in population. In the previous study, single nucleotide polymorphisms (SNPs) in the SLC4A4 gene have been reported to be associated with hypertension in Han Chinese population. We aimed to confirm whether the genetic variation of SLC4A4 gene influence the susceptibility to blood pressure and hypertension in Korean population. We genotyped variants in or near SLC4A4 in a population-based cohort including 7,551 unrelated Korean from Ansan and Ansung. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in SLC4A4 gene with blood pressure traits. By examining genotype data of a total of 7,551 subjects in the Korean Association REsource (KARE) study, we discovered the SLC4A4 gene polymorphisms are associated with blood pressure and hypertension. The common and highest significant polymorphism was rs6846301 (${\beta}$=0.839, additive P=0.032) with systolic blood pressure (SBP), rs6846301 (${\beta}$=0.588, additive P=0.027) with diastolic blood pressure (DBP), and rs6846301 (OR=1.23, CI: 1.09~1.40, additive $P=1.2{\times}10^{-3}$) with hypertension. Furthermore, the SNP rs6846301 was consistently associated with both blood pressure and hypertension. Consequently, we found statistically significant SNPs in SLC4A4 gene that are associated with both blood pressure and hypertension traits. In addition, these results suggest that the individuals with the minor alleles of the SNP in the SLC4A4 gene may be more susceptible to the development of hypertension in the Korean population.

• 대한한의학회지
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• 제24권4호
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• pp.25-33
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• 2003

lridology, a form of complementary and alternative medicine (CAM), is the diagnosis of medical conditions through noting irregularities of the pigmentation in the iris. lridological constitution has a strong familial aggregation and is implicated in heredity. Apolipoprotein E (apoE) gene polymorphism is one of the most well studied genetic markers of vascular disease. I investigated the relationship between iridological constitution and apoE polymorphism. I classified 87 hypertensive patients with family history of cerebral infarction and 79 controls according to iris constitution, and determined apoE genotype. Neurogenic type in hypertensives was 32.2% compared with 16.5% in controls (P<0.001). No differences in the apoE genotypes frequencies were observed in patients compared with those in controls ($x^2=0.726$, df-=2, P=0.696). However, in a population with ${\varepsilon}3/{\varepsilon}4$ genotype, the frequency of neurogenic constitution was significantly higher in hypertensives than in controls (60% vs. 0%) ($x^2=5.265$, df=l, P=0.022). These results could imply that apoE ${\varepsilon}3/{\varepsilon}4$ genotype and neurogenic iris constitution are risk factors for hypertension.

• 한국환경성돌연변이발암원학회지
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• 제22권1호
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• pp.47-53
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• 2002

Essential hypertension is complex disorder influenced by multiple genetic and environmental factors. Alterations of lipid metabolism in plasma have been reported to be related to an increased risk of essential hypertension. The aim of this study was to investigate the relationship between two SNPs of the human LDL receptor and CETP gene and hypertension in Korean population. There were no significant differences in allele and genotype frequencies of two SNPs in normotensives and hypertensives. With respect to Hinc II RFLP in the LDL receptor gene, pooled odds ratio value indicated the significant heterogeneity among populations studied by meta-analysis (Breslow-Day test df = 2, P<0.05). In the case of Bam HI RFLP in the CETP gene,. our study is the first report of an association between the SNP of the CETP gene and hypertension, although our result failed to demonstrate the significant association between the Bam HI RFLP of the CETP gene and hypertension in Korean population. Further work, using larger sample sizes and various ethnic groups, is required to establish the precise role of these two candidate gene polymorphisms on hypertension.

• 대한의생명과학회지
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• 제18권2호
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• pp.87-95
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• 2012

Hypertension is a complex disease that results from the interaction of genetic and environmental influences and heritability is influenced by about one-third to one-half. However, the specific genetic variants determining risk for hypertension are still largely unknown. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in ESR1 gene with blood pressure traits. By examining genotype data of a total of 3,804 women in the Korean Association REsource (KARE) study, we discovered the ESR1 gene polymorphisms are associated with blood pressure and hypertension. The highest significant polymorphisms were rs2982571 (${\beta}=-1.56$, $P=6.8{\times}10^{-3}$) with systolic blood pressure (SBP), rs9322335 (${\beta}=-0.61$, P=0.013) with diastolic blood pressure (DBP), and rs851985 (OR=0.78, CI: 0.65~0.94, $P=8.6{\times}10^{-3}$) with hypertension. In the 5 SNPs (rs2982571, rs851985, rs851983, rs851981, and rs851980), their ${\beta}$-values in SBP and/or DBP showed consistent trends with the odds ratios (ORs) of hypertension, and these 5 SNPs were composed with one LD block. Consequently, we found statistically significant SNPs in ESR1 gene that are associated with both blood pressure and hypertension traits. These results suggested that the individuals with the minor alleles of the 5 SNPs in the ESR1 gene may be less susceptible to the development of hypertension in the Korean women.

• 대한임상검사과학회지
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• 제52권1호
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• pp.45-52
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• 2020

고혈압은 종종 심혈관 질환 및 신장 질환으로 이어지며 전 세계적으로 중요한 문제이다. 유전적으로 많은 단일 염기 다형성이 고혈압과 관련이 있다. 많은 GWAS 연구에서 ATP2B1 유전자가 혈압과 연관성이 높다는 것을 발견했다. 본 연구에서는 한국인 994명을 대상으로 수축기 혈압, 이완기 혈압과 ATP2B1 유전자의 SNP와 연관성을 분석하였다. 또한, BMI수치에 따라 하위그룹으로 계층화하여 차이가 있는지 확인하고자 하였다. 다중선형회귀분석에서 수축기 혈압 및 이완기 혈압과 가장 높은 통계적 유의성을 보인 SNP를 선정하였다. 수축기 혈압과 이완기 혈압에서의 one-way analysis of variance를 시행하였고, 고혈압 발생 위험에 대한 다중로지스틱회귀분석을 시행하였다. 다중로지스틱회귀분석은 연령 기준으로 구분하여 시행하였으며, 연령, BMI, 공복 시 혈당을 통제한 방법에서 비교하였다. 수축기 혈압에서는 4개의 SNP (rs10506974, rs7136259, rs17249754, rs17836882)가, 이완기 혈압에서는 6개의 SNP(rs10506974, rs10777237, rs7136259, rs17249754, rs1371075, rs10506983)가 유의하게 관련성을 보였다. 추가적으로, 유전자형(genotype)에 따른 분석에서는 남성에게서 고혈압 위험에 대한 유의한 odd ratio 값을 보였다. 본 연구는 ATP2B1 다형성이 수축기 혈압과 이완기 혈압에 영향을 미치는 것을 제안한다.

• Journal of Genetic Medicine
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• 제2권1호
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• pp.27-30
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• 1998

Previously, we made a study report on the genotype distribution and the gene frequency of angiotesin 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 angiotesin II type 1 receptor ($AT_1R$) gene (an $A{\rightarrow}C$ transversion at position 1166 of $AT_1R$ 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 1 receptor gene were AA (66.3%):AC (28.1%):CC (5.6%), thus the AA genotype was most numerous, and the allele frequency was A:C = 0.803:0.197. Genotype distributions were shown as AA (76.8%):AC (20.9%):CC (2.3%), the allele frequency was A:C = 0.872:0.128 in the male group, and AA (47.4%):AC (41.0%):CC (11.6%), A:C = 0.679:0.321 in the female group. Differences were highly significant between the male and female groups (p<0.0001). Genotype distributions between angiotensin II type 1 receptor gene and angiotensin converting enzyme gene showed that there is no significance between $AT_1R$ genotypes and ACE genotypes in total subjects (p>0.05).

• 한국환경성돌연변이발암원학회지
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• 제22권1호
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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.