• Title/Summary/Keyword: essential gene

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Prediction of an Essential Gene with Potential Drug Target Property in Streptococcus suis Using Comparative Genomics

  • Zaman, Aubhishek
    • Interdisciplinary Bio Central
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    • v.4 no.4
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    • pp.11.1-11.8
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    • 2012
  • Genes that are indispensable for survival are referred to as essential gene. Due to the momentous significance of these genes for cellular activity they can be selected potentially as drug targets. Here in this study, an essential gene for Streptococcus suis was predicted using coherent statistical analysis and powerful genome comparison computational method. At first the whole genome protein scatter plot was generated and subsequently, on the basis of statistical significance, a reference genome was chosen. The parameters set forth for selecting the reference genome was that the genome of the query (Streptococcus suis) and subject must fall in the same genus and yet they must vary to a good degree. Streptococcus pneumoniae was found to be suitable as the reference genome. A whole genome comparison was performed for the reference (Streptococcus pneumoniae) and the query genome (Streptococcus suis) and 14 conserved proteins from them were subjected to a screen for potential essential gene property. Among those 14 only one essential gene was found to be with impressive similarity score between reference and query. The essential gene encodes for a type of 'Clp protease'. Clp proteases play major roles in degrading misfolded proteins. Results found here should help formulating a drug against Strptococcus suis which is responsible for mild to severe clinical conditions in human. However, like many other computational studies, the study has to be validated furthermore through in vitro assays for concrete proof.

Assicuation between Genetic Variation of the Insulin Receptor Gene and Essential Hypertension in the Korean Population

  • Kang, Byung-Yong;Kim, Ki-Tae;Eo, Hyun-Seon;Lee, Kyung-Ho;Hong, Sung-Soo;Shin, Jung-Hee;Lee, Chung-Choo
    • 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.

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Lack of Association between the S20G Missense Mutation of Amylin Gene and Essential Hypertension in Korean Population

  • Kang, Byung-Yong;Bae, Joon-Seol;Kim, Jae-Hyoun;Om, Ae-Son;Ryu, Jae-Chun;Eo, Hyun-Seon;Shin, Jae-Hyun;Shin, Jung-Hee;Lee, Chung-Choo;Kim, Ki-Tae
    • 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.

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The Association between Codon 192 Polymorphism of Paraoxonase/arylesterase Gene and Plasma HDL-cholesterol level in Korean Population

  • Kang, Byung-Yong;Kim, Ki-Tae;Shin, Jung-Hee;Om, Ae-Son;Lee, Chung-Choo
    • 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.

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Association between Genetic Variation in the Human Factor Ⅶ Gene and Essential Hypertension in Korean Population

  • Shin, Jung-Hee;Kang, Byung-Yong;Lee, Kyung-Ho;Lee, Chung-Choo;Kim, Ki-Tae
    • 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.

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Two Genetic Polymorphisms of the Human Lipoprotein Lipase Gene in Korean Patients with Essential Hypertension

  • Kang, Byung-Yong;Lee, Kang-Oh;Kim, Ki-Tae;Bae, Joon-Seol;Ryu, Jae-Chun;Kim, Jae-Hyoun;Lim, Seok-Rhin;Lee, Chung-Choo
    • Environmental Mutagens and Carcinogens
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    • v.22 no.1
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    • pp.22-29
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    • 2002
  • Essential hypertension is considered to be caused by a complicated combination of genetic and environmental factors. Alterations of lipid metabolism in plasma have been reported to be related to an increased risk of essential hypertension. The purpose of this study was to investigate the relationship between two genetic polymorphisms (Pvu II and Hind III RELPs) of the human lipoprotein lipase (LPL) gene and essential hypertension in korean population. In our result the Pvu II RFLP of LPL gene was significantly associated with essential hypertension (P < 0.05). Therefore, we suggest that the Pvu II RFLP of LPL gene may be useful as a genetic marker for essential hypertension in Korean population.

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The Distribution of Genetic Polymorphism in the ACE2 Gene in Korean Essential Hypertensives (한국인 본태성 고혈압 환자군에서 ACE2유전자에 존재하는 A1075G다형성의 분포에 관한 연구)

  • Jang Min Hee;Kang Byung Yong;Lee Jae Koo;Lee Kang Oh
    • Environmental Analysis Health and Toxicology
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    • v.20 no.4 s.51
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    • pp.303-309
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    • 2005
  • Essential hypertension has been considered as multifactorial disease resulted from the interaction of both environmental and genetic factors. The renin-angiotensin system (RAS) plays an important role in the regulation of blood pressure homeostasis. Recently, a homologue of angiotensin I converting enzyme, ACE2 has been focused on as a candidate gene of essential hypertension in the experiments using animal model and human being. In this study, we carried out an association study in order to clarify the relationship between the A 1075G polymorphism in the ACE2 gene and essential hypertension in Korean subjects. Because this polymorphism is located on human chromosome X, the statistical analysis for each gender was performed separately. There were no significant differences in allele distribution of the A 1075G polymorphism in the ACE2 gene between normotensives and hypertensives in the both gender groups, respectively. However, this polymorphism was significantly associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) values in only female groups (P< 0.05). Thus, these results may suggest the probable role of ACE2 gene in the inter-individual susceptibility of female group to blood pressure variability.

Genetic Variations in Six Candidate Genes for Insulin Resistance in Korean Essential Hypertensives

  • Bae, Joon-Seol;Kang, Byung-Yong;Kim, Ki-Tae;Shin, Jung-Hee;Lee, Chung-Choo
    • Animal cells and systems
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    • v.5 no.4
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    • pp.341-346
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    • 2001
  • Hypertension is a complex disease with strong genetic influences. Essential hypertension has been shown to be associated with insulin resistance. To clarify the genetic basis of insulin resistance in Hypertension, case-control association studies were performed to examine candidate genes for insulin resistance in hypertension. Polymorphisms investigated were the BstO I polymorphism of the $\beta$3-adrenergic receptor (ADRB3) gene, the Xba I Polymorphism of the glycogen synthase (GSY) gene, the Dde I polymorphism of the protein phosphatase 1 G subuit (PP1G) gene, the BstE II polymorphism of the glucagon receptor (GCG-R) gene, the Pst 1 polymorphism of the insulin (INS) gene and the Acc I polymorphism of the glucokinase (GCK) gene. No significant differences were observed in the distribution of alleles and genotypes of the ADRB3, GSY PP1G, GCG-R, INS, and GCK genes between hypertensive and normotensive groups. Although the frequencies in each of these polymorphisms were not significantly different between essential hypertensive and normotensive individuals, our results may provide additional information for linkage analysis and associative studies of disorders in carbohydrate metabolism or in cardiovascular disease.

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Haplotype Distribution of the β2-Adrenergic Receptor Gene in Korean Essential Hypertensives

  • Bae, Joon-Seol;Kang, Byung-Yong;Lee, Kang-Oh;Yoon, Tae-Joong;Kim, Jae-Hyoun;Kim, Ki-Tae
    • 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.

The Distributions of Three Genetic Polymorphisms in the Estrogen $Receptor-\alpha$ Gene in Korean Essential Hypertensives (한국인 본태성 고혈압군에서 에스트로젠 수용체-$\alpha$(유전자에 존재하는 다형성의 분포에 관한 연구)

  • Kim Ji Young;Kang Byung Yong;Lee Kang Oh
    • Environmental Analysis Health and Toxicology
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    • v.20 no.3 s.50
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    • pp.249-258
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    • 2005
  • Blood pressure, obesity and bone mineral density are multifactorial traits influenced by genetic factor. The purpose of this study was to clarify the association between three genetic polymorphisms in the estrogen receptor-$\alpha$ (ER -$\alpha$) gene and essential hypertension in korean population. One hundred and seventy-one people including 90 normotensives and 81 essential hypertentives were recruited. Among genetic polymorphisms studied, the Xba I RFLP in the intron 1 of this gene polymorphism was significantly associated with essential hypertension in women, suggesting the sexual dimorphism in genetic effect (P (<) 0.05). Further studied suggest that a larger sample size of this study are needed.