• Title/Summary/Keyword: significant gene groups

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BINGO: Biological Interpretation Through Statistically and Graph-theoretically Navigating Gene $Ontology^{TM}$

  • Lee, Sung-Geun;Yang, Jae-Seong;Chung, Il-Kyung;Kim, Yang-Seok
    • Molecular & Cellular Toxicology
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    • v.1 no.4
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    • pp.281-283
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    • 2005
  • Extraction of biologically meaningful data and their validation are very important for toxicogenomics study because it deals with huge amount of heterogeneous data. BINGO is an annotation mining tool for biological interpretation of gene groups. Several statistical modeling approaches using Gene Ontology (GO) have been employed in many programs for that purpose. The statistical methodologies are useful in investigating the most significant GO attributes in a gene group, but the coherence of the resultant GO attributes over the entire group is rarely assessed. BINGO complements the statistical methods with graph-theoretic measures using the GO directed acyclic graph (DAG) structure. In addition, BINGO visualizes the consistency of a gene group more intuitively with a group-based GO subgraph. The input group can be any interesting list of genes or gene products regardless of its generation process if the group is built under a functional congruency hypothesis such as gene clusters from DNA microarray analysis.

Effects of Paljeong-san Pharmacopuncture on Experimental Rat Model of Benign Prostatic Hyperplasia (팔정산약침이 실험적으로 유발된 전립선 비대증 Rat에 미치는 영향)

  • Kim, Chae Weon;Lee, Kwang Ho
    • Journal of Acupuncture Research
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    • v.31 no.1
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    • pp.95-103
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    • 2014
  • Objectives : The aim of this study is to evaluate the effect of Paljeong-san pharmac-opuncture(PJS) on the rat model of benign prostatic hyperplasia(BPH). Methods : Rats were divided into 5 groups, with 6 rats in each group. The 5 groups included sham-operated group(sham group), BPH model group(BPH group), finasteride-treated group (fina group), PJS-treated groups(PJS 10 and PJS 100 group). Testosterone was injected subcutaneously to the castrated rats except sham group for BPH model. During 4-week experimental period, finasteride(5 mg/kg) was administrated orally once daily in fina group, PJS in PJS 10(10 mg/kg) and PJS 100(100 mg/kg) group and normal saline in sham and BPH group were injected subcutaneously once daily at Jungwan($CV_{12}$). We checked prostate weights, serum concentration of dihydrotestosterone(DHT), morphologic changes of the prostate, and the amount of expression of the proliferating cell nuclear antigen(PCNA) and $5{\alpha}$-reductase gene to evaluate the effect of PJS after 4-week experimental period. Results : 1. PJS and finasteride treatment reduced prostate weights comparing with BPH group, but PJS-treated groups showed no significant changes, unlikely fina group. 2. PJS-treated groups showed significant degreases in concentration of DHT. 3. PJS-treated groups showed significant degreases concentration-dependently in the amount of expression of the PCNA and $5{\alpha}$-reductase gene. 4. PJS treatment showed shrinking of thickness in the prostatic epithelial tissue. Conclusions : PJS has the effects that improve the symptoms of BPH through inhibiting proliferation of the prostatic tissues.

Genetic Features of Cheju Horses based on Transferrin Gene Frequency (Transferrin 유전자빈도에 의한 제주마의 유전적 특성)

  • Yang, Y.H.;Kim, N.Y.
    • Journal of Animal Science and Technology
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    • v.46 no.1
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    • pp.15-22
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    • 2004
  • To investigate genetic features and the allele distribution of transferrin gene in three Cheju horse groups (group I, 137 horses of Jeju institute; group II, 107 horses of farms; group III, 89 racing horses) and three foreign breeds(l03 Thoroughbred, 10 Mongolian and 5 American Quarter horses), transferrin gene exons 13, 15, and 16 were analyzed by SSCP. The allele frequencies of transferrin gene of these groups and breeds were used to calculate genetic distances and to test population differentiations. The Fst values were 0.067 between Cheju horse groups I and II, 0.070 between Cheju horse groups I and group III, 0.091 between Cheju horse group I and Mongolian breed, and 0.189 between Cheju horse group I and Thoroughbred breed. Cheju horse group I showed significant population differentiation from other two Cheju horse groups and three foreign breeds while Cheju horse group III showed significant population differentiation only from Cheju horse group I and Thoroughbred breed(p <0.05). Results indicate that three Cheju horse groups showed population differentiation between each other, suggesting genetic heterogeneity of Cheju horses.

Dopamine Transporter Gene and Dopamine D2, D3, D4 Receptor Gene Polymorphisms in Attention Deficit Hyperactivity Disorder (주의력결핍 과잉행동장애에서 도파민 전달체 및 도파민 D2, D3, D4 수용체 유전자 다형성)

  • Park, Pil-Sang;Kim, Dae-Kwang;Jung, Chul-Ho
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.19 no.1
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    • pp.19-27
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    • 2008
  • Objectives : The aim of this study was to examine the association of attention-deficit hyperactivity disorder (ADHD) in Korean populations with functional polymorphisms of six genes dopamine receptors (Ser311/Cys311 polymorphism, Taq1 A polymorphism, and Taq1 B polymorphism in DRD2, BalI polymorphism in DRD3, and promoter -521 C/T polymorphism and exon III 48 bp repeat polymorphism in DRD4) and one gene in dopamine transporter (DAT1). Methods : Participants were 58 children with ADHD and 110 control children. The genotypes were determined by PCR. Results : There was a statistically significant difference in genotype frequency of -521 C/T polymorphism within the promoter region of the DRD4 between two groups. Furthermore, in the male group, both genotype and allele frequencies showed statistically significant differences. Conclusion : Findings of the study indicate that -521 C/T polymorphism in promoter region of DRD4 appears to be a possible candidate gene for ADHD in Korean population.

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Differences in Epidermal Growth Factor Receptor Gene Mutations and Relationship with Clinicopathological Features in NSCLC Between Uygur and Han Ethnic Groups

  • Zhang, Yan;Wang, Qiang;Han, Zhi-Gang;Shan, Li
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.2879-2883
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    • 2013
  • Objective: To investigate differences in mutations of epidermal growth factor receptor (EGFR) gene and relationships with clinicopathological features in patients with non-small cell lung cancer (NSCLC) between Uygur and Han ethnic groups. Methods: The Scorpions amplification refractory mutation system (Scorpions ARMS) was used to measure mutations in exons 18, 19, 20 and 21 of the EGFR gene in paraffin-embedded tumor tissue from NSCLC cases, and statistical analysis was performed to investigate links with clinicopathological features in different histological types of NSCLC. Results: Results from ARMS testing showed EGFR mutations in tumor tissues from six (6) of 50 NSCLC patients of Uygur ethnic group, with a positive rate of 12.0%; four of them (4) had exon 19 deletion in EGFR, and two (2) had L858R point mutation in exon 21 of EGFR. Statistically significant difference was noted in EGFR genetic mutation between adenocarcinoma and non-adenocarcinoma (P < 0.05), but no differences with gender, age group, smoking status, or stage (P > 0.05). EGFR mutations were detected in tumor tissues from 27 of 49 NSCLC patients of Han ethnic group, with a positive rate of 55.1%; 19 of them had exon 19 deletions, seven (7) had L858R point mutations in exon 21 of EGFR and one (1) had mutations in both exon 18 G719X and exon 20 T790M of EGFR. Statistically significant differences were noted in EGFR genetic mutations between genders and between adenocarcinoma and non-adenocarcinoma (P<0.05), but not with age group, smoking status, or stage (P > 0.05). Conclusion: Statistically significant differences were noted in the positive rates of EGFR genetic mutations in NSCLC patients between Uygur and Han ethnic groups, with lower positive rates for the Uygur cases.

Evaluation of Anti-Inflammatory Effects of Yukmijihwangtang and Individual Drug Substances Based on the Extraction Methods (추출 방법에 따른 육미지황탕의 항염증 작용 평가)

  • Lee, Gui-Hee;Yoo, Dong-Youl
    • The Journal of Korean Obstetrics and Gynecology
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    • v.25 no.2
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    • pp.89-107
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    • 2012
  • Objectives: This study was performed to develop therapeutic prescription that is more significant than existing ones through extraction method and formulation changes. Methods: Yukmijihwangtang(YMJHT) was extracted in 80% ethanol, and their relative anti-oxidant activities as well as anti-inflammatory effects through immune modulation were measured. Results: Both water and ethanol extracted YMJHT showed does-dependent DPPH elimination activities. ROS inhibition activity was greater in water extracted YMJHT except for Moutan Cortex. NO inhibition assay results indicated that all groups showed higher NO inhibition activities in RAW 264.7 cells in dose dependent manner. Water extracted group showed higher NO inhibition activity than that of ethanol extracted group. TNF-${\alpha}$ secretion inhibition assay using RAW 264.7 cells, water extracted YMJHT showed higher activity than ethanol extracts. Growth rate of spleen cells was greater in all tested groups, with higher rate in YMJHT-EtOH than YMJHT-DW. Suppression of gene expression of IFN-r in spleen cells stimulated by Con A was higher in YMJHT-EtOH than YMJHT-DW. Suppression of gene expression of IL-10 in spleen cells stimulated by Con A was highest in YMJHT-DW with 40%. Suppression of gene expression of IL-4 in spleen cells stimulated by Con A were significant with 90% or higher in all groups and that of IL-12p35 were also higher than 90% in all cases. Conclusions: From the results, it shows that YMJHT has anti-inflammatory effects through immune modulation. However, the difference between YMJHT-EtOH and YMJHT-DW was not that significant. Further studies are needed to find out effective extraction methods of herbal medicine.

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.

Association study between vitamin D receptor gene polymorphism and chronic periodontitis in Koreans

  • Kim, Seon-Jeong;Jang, Dai-Ho;Kang, Byung-Yong;Kim, Hyun-Hee;Lee, Kang-Oh
    • Proceedings of the Korea Society of Environmental Toocicology Conference
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    • 2003.05a
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    • pp.177-177
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    • 2003
  • Adult periodontitis is a chronic inflammatory disease whose etiology is not well defined. Recent studies have shown that vitamin D receptor gene has been a candidate for the susceptibility of adult periodontitis. The purpose of this study is to investigate the frequency of Taq I restriction fragment length polymorphism (RELP) in the vitamin D receptor gene in 141 periodontically healthy controls and 32 adult periodontitis patients. Taq I RFLP in the vitamin D receptor gene were detected by PCR amplification, followed by restriction enzyme digestion and 2% agarose gel electrophoresis. There were no significant difference in the distribution of Taq I RFLP between healthy controls and adult periodontitis group (P > 0.05). Thus, Taq I RFLP in the vitamin D receptor gene may not confer the susceptibility to adult periodontitis in Korean population. However, t allele distributions of this RFLP showed various frequencies among ethnic groups studied. Further studies in other ethnic groups will be required.

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The correlation of Septin4 gene expression with sperm quality, DNA damage, and oxidative stress level in infertile patients

  • Rahil Jannatifar;Hamid Piroozmanesh;Fahimeh Naghi Jalalabadi;Hamid Reza Momeni
    • Anatomy and Cell Biology
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    • v.56 no.4
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    • pp.518-525
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    • 2023
  • Septin4 belong to a family of polymerizing GTP-binding proteins that are required for many cellular functions, such as membrane compartmentalization, vesicular trafficking, mitosis, and cytoskeletal remodeling. Since, Septin4 is expressed specifically in the testis, we aimed to determine the association between Septin4 gene expression with sperm quality, DNA damage, and stress oxidative level in infertile patients. The present study included 60 semen samples that grouped into three groups: normozoospermia (n=20), asthenozoospermia (n=20), astheno-teratozoospermia (n=20). Initially, semen parameters were analyzed by using the World Health Organization protocol. The mRNA expression of Septin4 in sperm was examined using reverse transcription-polymerase chain reaction. Oxidative stress markers, i.e., total antioxidant capacity, superoxide dismutase, catalase, glutathione peroxidase, and malondialdehyde, were determined by ELISA kit. The current study showed a statistically significant highly positive correlation in Septin4 gene expression with sperm motility, normal morphology, viability, capacity, and sperm mitochondrial membrane potential (MMP). However, it showed significant negative correlation with sperm DNA fragmentation. Septin4 had a significant correlation with stress oxidative factor and antioxidant enzyme levels. In conclusion, Septin4 gene expression provides clinical useful information for the diagnosis of male infertility. It might be a marker for discrimination between fertile and infertile patients. The current study showed a statistically significant highly positive correlation in Septin4 gene expression with sperm motility, normal morphology, viability, capacity, and sperm MMP. However, it shows significant negative correlation with sperm DNA fragmentation. Septin4 had a significant correlation with stress oxidative factor and antioxidant enzyme levels.

The Distribution of the Insertion/Deletion Polymorphism of the Endothelial Nitric Oxide Gene in Koreans (한국인에서 Endothelial Nitric Oxide Synthase 유전자의 Insertion/Deletion Polymorphism의 분포)

  • 김선정;강병용;배준설;김기태;이강오
    • Environmental Mutagens and Carcinogens
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    • v.22 no.3
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    • pp.183-186
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    • 2002
  • 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 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

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