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Association of CYP2C19*2 and *3 Genetic Variants with Essential Hypertension in Koreans
신동직,장양수,권지선,박아람,배유선,신은순,박성하 연세대학교의과대학 2012 Yonsei medical journal Vol.53 No.6
Purpose: The cytochrome P450 2C19 (CYP2C19) metabolizes arachidonic acid to produce epoxyicosanoid acids, which are involved in vascular tone and regulation of blood pressure. Recent findings suggest that CYP2C19 gene might be considered as a novel candidate gene for treatment of cardiovascular disease. The aim of the present study was to evaluate the association between two variants, CYP2C19*2 (681G>A) and CYP2C19*3 (636G>A) and the development of essential hypertension (EH) in Koreans. Materials and Methods: We carried out an association study in a total of 1190 individuals (527 hypertensive subjects and 663 unrelated healthy controls). The CYP2C19 polymorphisms were genotyped using the SNaPShotTM assay. Results: The distribution of alleles and genotypes of CYP2C19*3 showed significant difference between hypertensive patients and normal controls (p=0.011 and p=0.013, respectively). Logistic regression analysis indicated that the CYP2C19*3 (636A) allele carriers were significantly associated with EH [odds ratio, 0.691; 95% confidence interval (CI), 0.512-0.932, p=0.016], in comparison to wild type homozygotes (CYP2C19*1/*1). Neither genotype nor allele distribution of CYP2C19*2 polymorphism showed significant differences between hypertensive and control groups (p>0.05). Conclusion: Our present findings strengthen the evidence of an association between CYP2C19 gene polymorphism and EH prevalence. In particular, the CYP2C19*3 defective allele may contribute to reduced risk for the development of EH.
신동직,이상학,장양수,박성하 대한심장학회 2013 Korean Circulation Journal Vol.43 No.1
Background and Objectives: Although the association between single nucleotide polymorphisms (SNPs) of Serine/Threonine Kinase 39(STK39) and hypertension has been reported, the prior studies have been inconsistent. The aim of this study is to evaluate the association between rs3754777 and rs6749447, the two SNPs of STK39, and hypertension and other cardiovascular risk factors in Koreans, residing in the Republic of Korea. Subjects and Methods: We included 238 hypertensive patients and 260 controls. The associations between genotype and haplotype com-bination and hypertension were examined. In addition, possible SNP-related differences in the adjusted blood pressure and other cardiovas-cular risk factors were analyzed. Results: There was no significant association between the two SNPs and hypertension. However, the carriers of AA genotype of rs3754777showed lower blood glucose and cholesterol levels, particularly in females. Genotype of rs6749447 was associated with the waist circum-ference, triglyceride, and high density lipoprotein-cholesterol levels, only in gender-stratified analysis. The effects of haplotype combina -tions on risk factors were compatible with genotype effects of each SNP. Conclusion: Associations between the two SNPs of STK39, rs3754777 and rs6749447, and hypertension were not significant. However, the two SNPs showed genotype-related differences in blood glucose, lipids, and waist circumference, especially in women. Further studies are needed to clarify the effect of STK39 variants in these cardiovascular risk factors.
신동직,김영진,김욱,Shin, Dong-Jik,Kim, Yung-Jin,Kim, Wook The Korean Society for Integrative Biology 1998 Korean journal of biological sciences Vol.2 No.2
We examined Y chromosomal DNA polymorphisms at the DYS19 and DXYS5Y loci in a total of 480 unrelated male samples from the Korean population. All five common alleles were identified at the tetranucleotide microsatellite locus DYS19 in this study. The C allele was the most frequent (212/480), followed by D (136/480), B (75/480), E (36/480) and A (21/480) allele. The frequency of Y2 allele at the DXYS5Y locus was found to be 4.6% (22/480). Combining the allelic variation at these two loci resulted in a total of 9 combination haplotypes. The mean combination haplotype diversity wIns 0.72. Based on the results of these two loci, Korean and Japanese populations may share some common genetic structure that is rare or absent in the other ethnic groups. The genetic similarity between Korean and Japanese populations may be due to the large infusion of Y chromosomes through the Yayoi migration starting 2,300 years ago from Korea to Japan.
한국인에서 본태성 고혈압과 안지오텐신 전환효소 유전자의 유전적 다형성 I/D, G14480C, A22982G와의 관련성 연구
김종민,신동직,배윤정,김숙,이종은,박찬미,박현영,김성주,장양수 대한심장학회 2004 Korean Circulation Journal Vol.34 No.12
Background and Objectives:The renin-angiotensin system (RAS) genes have been studied extensively as etiologic essential hypertension (EH) candidate genes in human populations worldwide. The angiotensin I-converting enzyme (ACE) plays an important role in the RAS for the regulation of blood pressure. Recent reports on the association of ACE gene polymorphisms with EH and the related cardiovascular diseases have been controversial. Therefore, this study investigated the association of three polymorphisms (I/D, G14480C and A22982G) in the ACE gene with EH in Koreans. Subjects and Methods:This study recruited a sample population of 887 Koreans (comprising of 461 controls and 426 EH cases) from Cardiovascular Genome Center in Korea. The ACE gene polymorphisms were determined by a polymerase chain reaction and a SNP-IT assay. Results:The genotype and the allele frequencies of all three polymorphisms in the hypertensives and the normotensives not significantly different (p>0.05). In the female control group, there was a significant difference in SBP among the genotype with the I/D polymorphism (p<0.05). There was also an association between the ACE polymorphisms and the hypertensive male group with the total cholesterol level. Haplotype analysis showed that none of the haplotypes were significantly associated with hypertension. Conclusion:ACE polymorphisms do not appear to have any apparent association with essential hypertension in Koreans, who have a more homogeneous genetic structure than other ethnic groups. 배경 및 목적: 레닌-안지오텐신계(RAS) 내의 안지오텐신 전환효소(ACE)는 고혈압을 비롯한 심혈관계 질환의 발병기전에 중추적인 역할을 담당하며 ACE 유전자 다형성이 인류 집단 간에 차이는 있으나 본태성 고혈압 발생에 중요한 영향을 주는 것으로 알려져 있다. 따라서 본 연구에서는 한국인 정상 대조군과 고혈압 환자군을 대상으로 ACE I/D, G14480C 그리고 A22982G 등의 ACE 유전자 다형성과 본태성 고혈압과의 관련성 연구를 수행하였다. 방 법: 연세 심혈관계 유전체 연구센터로부터 426명(남성:190명, 여성:236명)의 환자 표본과 건강검진을 받은 461명(남성:201명, 여성:236명)의 정상대조군 대상으로 세 종류의 ACE 유전자형의 빈도를 조사하였으며 두 군에서 ACE 유전자형에 따른 혈압, 중성지방, 총콜레스테롤, HDL, LDL 그리고 혈당의 농도를 비교분석하였다. ACE 유전자형은 말초혈액으로부터 genomic DNA를 추출하여 PCR 및 SNP-IT 방법으로 결정하였다. 결 과: 정상 대조군과 고혈압 환자군 간의 ACE 유전자형 및 대립인자형의 빈도 비교에서는 유의한 차이를 보이지 않았다. ACE 유전자형에 따른 혈압, 중성지방, 혈당 및 콜레스테롤의 농도를 비교분석한 결과에서 혈압의 경우 수축기 혈압은 정상의 여성 대조군에서 그리고 총콜레스테롤 농도는 남성 환자군에서 유의한 차이를 나타냈으나 이완기 혈압 및 기타의 변수들은 두 군에서 차이가 없는 것으로 조사되었다. 또한 ACE 유전자형을 기초로 한 haplotype 비교분석에서는 두 군 간의 유의한 빈도차이를 보이지 않았다. 한편 한국인에서 ACE I/D 다형성의 D 대립인자형의 빈도는 동아시아인 집단과는 유사하게 나타난 반면 흑인 및 백인 집단 매우 낮은 것으로 분석되었다. 결 론: 한국인 집단에서 세 종류의 ACE 유전자 다형성은 본태성 고혈압의 발생 유무 및 혈압변화의 정도와 관련성이 없는 것으로 분석되었다.
한국인 집단에서 Y 염색체상의 Microsatellite DYS19 좌위에 관한 PCR 다형 현상
김욱,신동직 한국유전학회 1998 Genes & Genomics Vol.20 No.1
The Y-linked tetranucleotide microsatellite locus DYS19 (Y-27H39) has been examined in samples from a total of 505 unrelated Korean males to study the population structure and genetic affinities between Koreans and different ethnic groups. All five common alleles at the DYS19 locus were identified in this study. The C allele is the most frequent (220/505), followed by the D (134/505), B (86/505), E (44/505) and A (21/505) allele and the DYS19 allelic diversity was estimated as 0. 703 in the Korean population. This predominance of the C allele is similar to the previous reports from other surveys of Asian, Australian and African population. On the basis of results for the allele frequency of the DYS19, Japanese show a close genetic relationship with Koreans rather than with other ethnic groups. This result could reflect an evidence for the gene flow and the large infusion of genes with the Yayoi migration from Korea to Japan.