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한국인 집단에서 심방 나트륨 이뇨 펩티드 유전자에 존재하는 유전적 변이와 본태성 고혈압과의 관련성에 관한 연구
배준설(Joon Seol Bae),강병용(Byung Yong Kang),이강오(Kang Oh Lee),이승택(Seung-Taek Lee) 한국독성학회 2006 Toxicological Research Vol.22 No.2
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 polymorphisms 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.
한국인에서 조현병과 Cannabinoid Receptor 1 유전자의 삼핵산 반복서열의 연합에 대한 연구
김지원,노양호,김민재,김채리,박병래,배준설,신형두,최인근,한상우,황재욱,우성일,Kim, Ji-Won,Roh, Yang-Ho,Kim, Min-Jea,Kim, Chea-Ri,Park, Byung-Lae,Bae, Joon Seol,Shin, Hyoung Doo,Choi, Ihn-Geun,Han, Sang-Woo,Hwang, Jaeuk,Woo, Sung-Il 대한생물정신의학회 2014 생물정신의학 Vol.21 No.3
Objectives Previous studies suggest that the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. According to linkage studies, this gene is located on chromosome 6q14-q15, which is known to harbor the schizophrenia susceptibility locus (locus 5, SCZ5, OMIM 803175). The pharmacological agent delta-9-tetrahydrocannabinol (${\Delta}$-9-THC) seems to elicit the symptoms of schizophrenia. The association between CNR1 polymorphisms and schizophrenia is actively being investigated, and some studies have linked the AAT-trinucleotide repeats in CNR1 to the onset of schizophrenia. In this study, we have investigated the association between the AAT-trinucleotide repeats in CNR1 and schizophrenia by studying schizophrenia patients and healthy individuals from Korea. Methods DNA was extracted from the blood samples of 394 control subjects and 337 patients diagnosed with schizophrenia (as per the Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria). After polymerase chain reaction amplification, a logistic regression analysis, with age and gender as the covariates, was performed to study the variations in the AAT-repeat polymorphisms between the two groups. Results In total, 8 types of trinucleotide repeats were identified, each containing 7, 8, 10, 11, 12, 13, 14, and 15 repeats, respectively. $(AAT)_{13}$ allele was most frequently observed, with a frequency of 33.6% and 31.6% in the patient and control groups, respectively. The frequency of the other repeat alleles in the patient group (in the decreasing order) was as follows : $(AAT)_{13}$ 33.6%, $(AAT)_{14}$ 21.6%, $(AAT)_{12}$ 18.5%, and $(AAT)_{7}$ 11.1%. The frequency of the repeat alleles in the control group (in the decreasing order) was as follows : $(AAT)_{13}$ 31.6%, $(AAT)_{14}$ 24.5%, $(AAT)_{12}$ 17.2%, and $(AAT)_{7}$ 11.6%. However, there were no significant differences in the AAT-repeat polymorphisms of the CNR1 gene between the patient group and the control group. Conclusions Although our study revealed no significant association of the AAT-repeat polymorphism of the CNR1 gene with schizophrenia, it will serve as a good reference for future studies designed to examine the cannabinoid hypothesis of schizophrenia.
한국인에서 Neuregulin 3(NRG3) 유전자와 조현병의 연합 연구
신수진,최종택,김지원,노양호,박병래,배준설,신형두,최인근,한상우,황재욱,우성일,Shin, Su-Jin,Choi, Jong-Taek,Kim, Ji-Won,Roh, Yang-Ho,Park, Byung-Lae,Bae, Joon-Seol,Shin, Hyoung-Doo,Choi, Ihn-Geun,Han, Sang-Woo,Hwang, Jae-Uk,Woo, Sung-I 대한생물정신의학회 2012 생물정신의학 Vol.19 No.3
Objectives : Located on chromosome 10q22-q23, the human neuregulin 3 (NRG3) is suggested as a strong positional and functional candidate gene involved in the pathogenesis of schizophrenia. Several case-control studies examining the association between polymorphisms on NRG3 gene with schizophrenia and/or its traits (such as delusion) have been reported recently in cohorts of Han Chinese, Ashkenazi Jews, Australians, white Americans of Western European ancestry and Koreans. Thus, this study aimed to investigate the association of one SNP in exon 9 (rs2295933) of NRG3 gene with the risk of schizophrenia in a Korean population. Methods : Using TaqMan assay, rs2295933 in the exon 9 of NRG3 was genotyped in 435 patients with schizophrenia as cases and 393 unrelated healthy individuals as controls. Differences in frequency distributions were analyzed using logistic regression models following various modes of genetic inheritance and controlling for age and sex as covariates. Results : Subsequent analysis revealed that the frequency distribution of rs2295933 of NRG3 was not different between schizophrenia patients and healthy controls of Korean ethnicity. Conclusions : This study does not support the role of NRG3 in schizophrenia in a Korean population.
한국인에서 Endothelial Nitric Oxide Synthase 유전자의 Insertion/deletion Polymorphism의 분포
김선정(Seon Jeong Kim),강병용(Byung Yong Kang),배준설(Joon Seol Bae),김기태(Ki Tae Kim),이강오(Kang Oh Lee) 한국환경성돌연변이발암원학회 2002 한국환경성돌연변이·발암원학회지 Vol.22 No.3
Hypertension is a multifactorial disease. Both genetic and environmental factors have been implicated in its etiology. Since the impairment of nitric oxide (NOS) production plays an important role in the pathogenesis of hypertension, endothelial nitric oxide synthase (ecNOS) gene is supposed to be a candidate gene of<br/> hypertension. Our study group investigated the 27 bp insertion/deletion (Ins/Del) polymorphism of ecNOS gene in 99 Korean normotensives and 98 hypertensives, respectively. There was no significant association with any cardiovascular risk factors as well as hypertension in Koreans. The Ins/Del polymorphism of the ecNOS gene indicated the similar allele distribution among ethnic groups studied. Further studies using larger sample size and subject information is required to describe the general picture of the association between the ecNOS gene polymorphic loci and hypertension
Kang, Byung Yong,Bae, Joon Seol,Kim, Ki Tae,Lee, Kyung Ho,Shin, Jung Hee,Lee, Chung Choo 한국유전학회 2002 Genes & Genomics Vol.24 No.1
Lipoprotein lipase (LPL) is the key enzyme for the hydrolysis of the core triglycerides of chylomicrons and very low-density lipoproteins (VLDL). Numerous mutations displaying extensive molecular heterogeneity for the LPL gene have been reported so far. To investigate whether such mutations may be associated with essential hypertension, we screened for mutations of this gene using single-strand conformation polymorphism (SSCP) in 96 Korean subjects with essential hypertension and in 143 normotensive individuals. Two mutations in intron 3(CCA→TCA) and exon 9(TCA→TGA, Ser^447→Ter) of the LPL gene were identified by SSCP analysis. Although neither mutation showed any association with essential hypertension, the intron 3(CCA→ TCA) mutation was significantly associated with body mass index (Mann-Whitney U-test, P<0.05). Therefore, this mutation may be useful as a genetic marker for linkage analysis of diverse common diseases.
Kang, Byung Yong,Oh, Sang Duk,Bae, Joon Seol,Kim, Ki Tae,Kim, Jae Hyoun,Lee, Kang Oh 한국환경독성학회 2002 환경독성보건학회지 Vol.17 No.4
심폐 지구력은 유전인자에 의해 부분적으로 결정되며, 현재까지 이루어진 연구 결과에 의하면 안지오텐신 전환효소 유전자에 존재하는 다형성과 이 형질 사이에 유의한 관련성이 보고되고 있다. 그러나, 이러한 연구는 주로 서양인을 대상으로 수행되었기 때문에, 유전적 배경이 다른 아시아 집단에 대해서는 아직까지 이렇다 할 연구 성과가 없는 실정이다. 이에, 본 연구에서는 아시아 집단 중에서도 민족적으로 순수한 한국인 집단을 대상으로 안지오텐신 전환효소 유전자에 존재하는 다형성이 한국인 집단에서도 심폐 지구력과 유의한 관련성이 있는 지를 조사하였다. 그러나, 한국인 운동선수군을 대상으로 한 연구에서는 안지오텐신 전환효소 유전자의 다형성이 심폐 지구력을 비롯한 신체 계측치 및 생화학적인 측정치 들과 어떠한 관련성도 나타내지 않았다(P<0.05). 그러나, 본 연구 대상은 다양한 종목에서 선발된 운동 선수들을 표본으로 하였기 때문에, 단일 종목의 운동 선수군을 대상으로 한 추시가 요구된다.
한국인 본태성 고혈압군에서 Dopamine D1 Receptor 유전자의 변이를 이용한 관련성 분석
신정희,김기태,이정주,배준설,강병용 한국유전학회 2001 Genes & Genomics Vol.23 No.3
Essential hypertension is a multifactorial disease, and has been known to be associated with dopamine D1 receptor (DRD1) gene. The dopamine D1 receptor is known to increase sodium the excretion by inhibiting Na^+-H^+ exchanger and Na^+, K^+-ATPase activity. The relationship the between the genetic variation of the DRD1 gene and essential hypertension in the Korean population was investigated by the DdeI restriction fragment length polymorphism (RFLP). There were no significant differences between normotensives and essential hypertensives in allele and genotype frequencies, respectively. The genotype of the DRD1 gene may be associated with conventional cardiovascular risk factors such as plasma total cholesterol and LDL-cholestrol levels in normotensives (p<0.05). We suggest that the DdeI RFLP of the DRD1 gene may be linked to risk factors associated cardiovascular disease in our study group.
Haplotype Distribution of the Apolipoprotein B Gene in Korean Essential Hypertensives
Kang, Byung Yong,Kim, Ki Tae,Shin, Jung Hee,Lee, Chung Choo,Lee, Kang Oh,Bae, Joon Seol 한국유전학회 2002 Genes & Genomics Vol.24 No.1
Essential hypertension is a polygenic and multifactorial disorder that is influenced not only by environmental factors but also by genetic factors. Alterations of lipid metabolism in plasma have been reported to be an increased risk factor of essential hypertension. The purpose of this study was to estimate allele, genotype or haplotype frequencies of apolipoprotein B (apoB) gene in Korean population and investigate the relationship between this gene and essential hypertension. In order to estimate the gene frequencies, PvuII, XbaI and EcoRI RFLPs of apoB gene were used as genetic marker. There was no significant difference in allele and genotype frequencies between normotensives and essential hypertensives. From maximun likelihood estimates of haplotype frequencies, haplotype was constructed by 3 diallelic sites and classified into 8 different types. There was the significant difference in haplotype frequency between two groups. The P1-X1-E2 haplotype frequency of normotensives was significantly high than that of essential hypertensives (P<0.05). Therefore, our result suggest that P1-X1-E2 haplotype of apoB gene may be a protective marker against essential hypertension in Korean population.