• Title/Summary/Keyword: Genetic relation

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Prevalence of Hyperhomocysteinemia and Related Factors in a Community-based Health Examination Survey: A Cross-sectional Study (경기도 일개 지역사회 대표집단에서 고호모시스테인혈증의 유병률 및 관련요인에 대한 단면조사연구)

  • Kim, Soo-Jeong;Lim, Kyung-Sook;Song, Mi-Sook;Kang, Yeon-Ji;Lee, Soon-Young
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.5
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    • pp.337-342
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    • 2009
  • Background : Many previous studies have shown that elevated homocysteine in the serum is a well known risk factor for cardiovascular disease and this is associated with other risk factors for cardiovascular disease, but any Korean data on this is limited. Objectives : This study aimed to calculate the prevalence of hyperhomocysteinemia and to analyze the relation between elevated homocysteine and the lifestyle factors of Korean adults. Methods : We conducted a cross-sectional survey that included 650 men and 743 women (age range, 20 to 79 years) who were residents of Gwangju City in Gyeonggi-do. These subjects participated in the health interview and examination survey from November to December 2005. The total homocysteine, total cholesterol, HDL-cholesterol, LDL-cholesterol, and triglyceride in the serum were measured. All the participants had their body composition measured such as height and weight, and we obtained health-related behavioral information through the self-entry questionnaire. Results : Very right-handed skewed distributions of homocysteine were shown in men and women. The prevalence of hyperhomocysteinemia was 22.6% in men and 13.7% in women in Gwangju city. On the multiple logistic regression analysis, hyperhomocysteinemia was associated with age (OR=1.02, 95% CI=1.01-1.04), male gender (OR=1.60, 95% CI=1.02-2.52), severe general physical activity (OR=0.32, 95% CI=0.15-0.69) and nutrient consumption (OR=0.49, 95% CI=0.31-0.76). Conclusions : There is a great prevalence of hyperhomocysteinemia in adults of Gwangju City, Korea and it was associated with both genetic factors and lifestyle risk factors. This study can suggest that comprehensive lifestyle modification is needed in order to diminish the prevalence of hyperhomocysteinemia and to prevent CVD.

Impact of HER2 and PTEN Simultaneous Deregulation in Non-small Cell Lung Carcinoma: Correlation with Biological Behavior

  • Panagiotou, Ioannis;Georgiannos, Stavros N.;Tsiambas, Evangelos;Karameris, Andreas;Konstantinou, Marios;Lazaris, Andreas C.;Kavantzas, Nikolaos;Vilaras, George;Patsouris, Efstratios
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.12
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    • pp.6311-6318
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    • 2012
  • Background: HER2/neu overexpression due to gene amplification is an important factor in breast cancer, modifying the sensitivity to anti-HER2 monoclonal antibody therapy. The clinical significance of HER2 expression in non small cell lung carcinoma (NSCLC) is currently under evaluation. The tumor suppressor gene PTEN negatively regulates the HER2/PI3K/Akt signalling pathway. The purpose of this study was to evaluate the role of simultaneous alteration in HER2 and PTEN protein expression in relation to biological behaviour of NSCLCs. Materials and Methods: Protein expression was determined by immunohistochemistry in sixty-one (n=61) NSCLC cases along with CISH for HER2 gene analysis and detection of chromosome 17 aneuploidy. Patients were followed-up for a period of 34 to 41 months after surgery. Results: HER2 overexpression (2+/3+score) was detected in 17 (27.9%) patients while loss of PTEN expression was observed in 24 (39.3%) cases, low expression in 29 (47.6%) and overexpression in 8 (13.1%). Simultaneous HER2 overexpression and PTEN low/loss of expression were correlated with metastasis (71.4% vs 36.2% p=0.03). Analysis in the subgroup of 22 patients of pTNM stage III with lymph node status N1 or N2 revealed that there was a relationship between the number of positive regional lymph node groups and simultaneous deregulation of the two genes (p=0.04). Multivariate analysis determined that HER2 overexpression was associated with an increasing risk of developing metastases (OR: 4.3; 95%CI: 1.2-15.9; p: 0.03) while PTEN overexpression was associated with lower risk (OR: 0.1; 95%CI: 0.1, 1.0; p: 0.05). Conclusions: Simultaneous HER2/PTEN deregulation is a significant genetic event that leads to a more aggressive phenotype of NSCLC.

Associations of ERCC4 rs1800067 Polymorphism with Cancer Risk: an Updated Meta-analysis

  • Yuan, Quan;Liu, Jing-Wei;Xing, Cheng-Zhong;Yuan, Yuan
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7639-7644
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    • 2014
  • Background: Results from previous studies concerning the association of ERCC4 rs1800067 polymorphism with risk of cancer were inconsistent. To explore the exact relation with susceptibility, we conducted the present meta-analysis. Materials and Methods: Literature of electronic databases including PubMed, Web of Science, EMBASE, Wanfang and Chinese National Knowledge Infrastructure (CNKI) were systematically searched. ORs and their 95%CIs were used to assess the strength of associations between ERCC4 polymorphism and cancer risk. Results: There was no significant association between ERCC4 rs1800067 AA or AG genotypes and overall risk of cancer (AA vs. GG: OR=0.998, 95%CI=0.670-1.486, P=0.992; AG vs. GG: OR=0.970, 95%CI=0.888-1.061, P=0.508). A dominant genetic model also did not demonstrate significant association of (AA+AG) genotype carriers with altered risk of overall cancer (OR=0.985, 95%CI=0.909-1.068, P=0.719). In addition, no significant association was observed between A allele of ERCC4 rs1800067 A/G polymorphism and altered cancer risk compared with G allele (OR=0.952, 95%CI=0.851-1.063, P=0.381). Subgroup analysis suggested that AA genotype carriers were significantly associated with decreased risk of glioma compared with wild-type GG genotype individuals (OR=0.523, 95%CI=0.275-0.993, P=0.048). For subgroup of lung cancer, A allele of ERCC4 rs1800067 A/G polymorphism was significantly associated with decreased risk of lung cancer compared with G allele (OR=0.806, 95%CI=0.697-0.931, P=0.003). Conclusions: This meta-analysis indicated that ERCC4 rs1800067 A/G polymorphism might not be associated with risk of overall cancer. However, individuals with the AA genotype were associated with significantly reduced risk of glioma compared with wild-type GG genotype; The A allele was associated with significantly reduced risk of lung cancer compared with G allele. Future large-scale studies performed in multiple populations are warranted to confirm our results.

A Study on How the Discourse on the Constitutional Symptoms and Diseases in "Donguisusebowon" Influenced the Formation of the Theory of Eight Constitution ("동의수세보원(東醫壽世保元)"의 병증론이 8체질론(體質論)의 형성에 미친 영향에 대한 고찰(考察))

  • Jeung, Yong-Jae;Park, Seong-Sik
    • Journal of Sasang Constitutional Medicine
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    • v.23 no.4
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    • pp.445-457
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    • 2011
  • 1. Purpose Lee Je-Ma had continued to revise "Donguisusebowon" by adding the contents of the Symptomatic-pharmacology(病證藥理論) on Soeumin, Soyangin and Taeeumin to it from the first establishment of the old version in 1894 to 1900.(new version). This paper tries to find out the contents and meaning of the Discourse on the Constitutional Symptoms and Diseases(病證論) between the old version and new version and what the Discourse on the Constitutional Symptoms and Diseases affected the Theory of Eight Constitution created in subsequent years. 2. Methods I classified the Discourse on the Constitutional Symptoms and Diseases in "DongYiSuseBowon" into old version and new version and tried to find out the Theory of Eight morbidities(8病證論) which is the predecessor of the Theory of Eight Constitution, before reviewing their relation. 3. Conclusions 1) The Discourse on the Constitutional Symptoms and Diseases in the old version specify that the externally sensed diseases are caused by the deep sediment of nature(性) and that the internally touched diseases are caused by the violent activities of emotion(情). In addition, it said that all diseases are caused by the specific characteristics of patient's smaller internal organs(偏小之臟). But in new version, the diseases were understood through the concept Exterior, Interior, Heat and cold(表裏寒熱). The new version said that the diseases may be caused not only the specific characteristics of patient's smaller organs but also by bigger organs(偏大之臟). 2) The Theory of Eight Constitution was derived from the Theory of Eight morbidities, in which all kinds of human diseases are caused by 8 disease-orgin organ and that the diseases therefore can be classified into 8 morbidities. The Theory of Eight morbidities reorganized the Discourse on the Constitutional Symptoms and Diseases in "DongYiSuseBowon" by classifying them into first morbidity and second morbidity. 3) The Discourse on the Constitutional Symptoms and Diseases in "DongYiSuseBowon" has decisively affected the creation of the Theory of Eight morbidities which is the predecessor of the Theory of Eight Constitution. The Theory of Eight morbidities may be deemed another interpretation of the Discourse on the Constitutional Symptoms and Diseases in "DongYiSuseBowon". As the Theory of Eight morbidities put emphasis on the genetic characteristics, the Theory of Eight Constitution stating that Eight morbidities are caused by different specific constitution was derived.

Amniotic Fluid Bisphenol A Level and Its Relationship with Pregnancy Outcomes (임신 중 내분비계 장애물질 Bisphenol A의 양수 내 농도와 임신결과와의 상관관계)

  • Yoon, Jeong-Mi;Kwon, Ja-Young;Yoon, Yong-Dal;Kim, Sei-Kwang
    • Development and Reproduction
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    • v.16 no.2
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    • pp.95-100
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    • 2012
  • Bisphenol A (BPA), a chemical with weak estrogenic activity is reported to affect preimplantation embryos, fetuses and alter their postnatal development. This study amied to determine the relation between the levels of BPA in the amniotic fluid and pregnancy outcomes. ELISA was used to measure amniotic fluid BPA in 120 pregnant women who underwent genetic amniocentesis at 15~20 weeks gestation. The most common indication for amniocentesis was advanced maternal age (35 yrs or older). BPA was detected in all amniotic fluid. The range of amniotic fluid BPA concentrations was from 0.89 ng/mL to 37.13 ng/mL with a mean level of 7.24 ng/mL. We compared the means of amniotic fluid BPA concentrations according to maternal age (${\geq}35$ vs. <35 yrs), fetal sex (male vs. female), gestational age at birth (${\geq}37$ vs. <37 weeks), and infant birth weight (${\geq}2.5$ vs. <2.5 kg). No significant differences were found in these outcomes. This is the first report of amniotic fluid BPA levels in Korean pregnant women. Our findings suggest that BPA may not affect the pregnancy outcomes such as fetal sex, preterm delivery and low birth weight. Whether prenatal exposure to BPA can have teratogenic effect on developing embryo needs to be studied.

Genetic Analysis of Thiobencarb Tolerance in Rice(Oryza sativa L.) (제초제(除草劑) Thiobencarb에 대한 벼 내성(耐性)의 유전(遺傳))

  • Shin, D.H.;Moody, K.;Zapata, F.J.;Kim, K.U.
    • Korean Journal of Weed Science
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    • v.10 no.3
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    • pp.179-185
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    • 1990
  • Five parents which showed differential response to thiobencarb and their $F_1$ hybrids were treated with thiobencarb (S-[(4-chlorophenyl) methyl]diethylcarbamothioate) at 2 and 4 kg ai/ha in order to investigate the inheritance of rice (Oryza sativa L.) to the herbicide. In the analysis of diallel crosses for tolerance of rice cultivars to the herbicide, highly significant GCA (general combining ability) and SCA (specific combining ability) effects were observed at both herbicide rates using the parameters of plant height and dry weight ; the GCA effect being greater than the SCA effect. The additive effects appeared to be more prevalent than dominance effects, and partial dominance was recognized in relation to herbicide tolerance in the different rice cultivars. Higher heritabilities in the narrow and broad senses were observed at 4 kg ai/ha. The heritabilities in the narrow sense for plant height and dry weight were 0.726 and 0. 743, respectively. IR9660-50-3-1 which showed the highest GCA effects seemed to possess more dominant genes related to herbicide tolerance than the other rice cultivars tested.

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The DNA Repair Gene ERCC6 rs1917799 Polymorphism is Associated with Gastric Cancer Risk in Chinese

  • Liu, Jing-Wei;He, Cai-Yun;Sun, Li-Ping;Xu, Qian;Xing, Cheng-Zhong;Yuan, Yuan
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.10
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    • pp.6103-6108
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    • 2013
  • Objective: Excision repair cross-complementing group 6 (ERCC6) is a major component of the nucleotide excision repair pathway that plays an important role in maintaining genomic stability and integrity. Several recent studies suggested a link of ERCC6 polymorphisms with susceptibility to various cancers. However, the relation of ERCC6 polymorphism with gastric cancer (GC) risk remains elusive. In this sex- and age-matched case-control study including 402 GC cases and 804 cancer-free controls, we aimed to investigate the association between a potentially functional polymorphism (rs1917799 T>G) in the ERCC6 regulatory region and GC risk. Methods: The genotypes of rs1917799 were determined by Sequenom MassARRAY platform and the status of Helicobacter pylori infection was detected by enzyme-linked immunosorbent assay. Odd ratios (ORs) and 95% confidential interval (CI) were calculated by logistic regression analysis. Results: Compared with the common TT genotype, the ERCC6 rs1917799 GG genotype was associated with increased GC risk (adjusted OR=1.46, 95%CI: 1.03-2.08, P=0.035). When compared with (GT+TT) genotypes, the GG genotype also demonstrated a statistical association with increased GC risk (adjusted OR=1.38, 95%CI: 1.01-1.89, P=0.044). This was also observed for the male subpopulation (GG vs. TT: adjusted OR=1.71, 95%CI: 1.12-2.62, P=0.013; G allele vs. T allele: adjusted OR=1.32, 95%CI: 1.07-1.62, P=0.009). Genetic effects on increased GC risk tended to be enhanced by H. pylori infection, smoking and drinking, but their interaction effects on GC risk did not reach statistical significance. Conclusions: ERCC6 rs1917799 GG genotype might be associated with increased GC risk in Chinese, especially in males.

Reduction of causative organisms associated with dental caries and alteration of oral hygiene status in connection with toothbrushing instruction for preschool children (미취학 아동의 칫솔질 교육에 따른 치아우식원인균 감소와 구강위생상태 변화)

  • Song, Ji-Na;Cho, Myung-Sook;Lee, Min-Kyung;Yu, Su-Bin;Kim, Sun Il;Kim, Hye-Jin
    • Journal of Korean society of Dental Hygiene
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    • v.18 no.5
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    • pp.831-842
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    • 2018
  • Objectives: This study was conducted to reveal the biological basis of dental plaque and preschool children's dental health status through repetitive and continuous toothbrushing instruction to preschool children, using quantitative criteria, and to emphasize the importance of the role of an oral health manager for the prevention of dental caries. Methods: After IRB approval, toothbrushing instruction and oral microbial specimen collection were conducted with children of preschool age at the Daycare Center attached to D. University, Busan. Specimens from 27 children were characterized by analysis with real-time multi-chain enzymatic polymerization reaction technique at an agency specializing in genetic analysis. Results: In a survey of the children's dental health behaviors, 48.1% responded that the toothbrushing time is 91 to 150 seconds; 66.7% responded that the frequency of toothbrushing is more than three times per day; 81.5% stated that they performed tongue brushing; and 81.5% brushed their teeth. Regarding levels of dental cariogenic bacteria, after children received continuous toothbrushing instruction, there were reductions in both Streptococcus mutans and Streptococcus sobrinus. Regarding toothbrushing time, the time increased in relation to the presence of instruction. Regarding Quigley Hein Index, the index decreased in the early and middle periods upon addition of instruction, then increased in the middle and later periods. Conclusions: Through persistent and repetitive toothbrushing instruction, healthy behavior can be positively established in children of preschool age; it is necessary to prepare institutional measures so opportunities for dental health education can be consistently provided and maintained. In the future, it will be necessary to conduct a follow-up study to verify the factors affecting toothbrushing time and volume of oral pathogens.

Association of Grain Filling Duration and Leaf Activity with the Grain Yield in Field-Grown Temperate Japonica Rice

  • Yang, Woonho;Kang, Shingu;Park, Jeong-Hwa;Kim, Sukjin;Choi, Jong-Seo;Heu, Sunggi
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.63 no.2
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    • pp.120-130
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    • 2018
  • Improvement in rice grain yield has been approached by means of genetic amendment, cultural management, and environmental adaptation. Subjecting the plant during the grain filling period to an appropriate environment plays a key role in achieving a high grain yield in temperate rice. Field experiments were conducted for two consecutive years with two planting times to assess the relations among grain filling traits, loss of leaf activity during the ripening period, and the grain yield of temperate japonica rice with wide environmental variation. Higher grain yields were attained in 2017 than in 2016 and with late planting than with early planting. The high grain yield accompanied a comparatively lesser increase in grain weight at the early filling stage but more gain in grain weight occurred during the late filling stage. Final grain weight correlated positively with grain filling duration but negatively with grain filling rate. Extended grain filling duration was associated with higher cumulative temperature and cumulative solar radiation for an effective grain filling period. The reduction in SPAD value ${\times}$ leaf dry weight from heading to harvest significantly correlated with final grain dry weight in a positive manner. No significant relation was found between grain filling duration and the decrease in SPAD value ${\times}$ leaf dry weight during the grain filling period. The results suggest that grain filling duration and loss of leaf activity during ripening independently contribute to environmentally induced yield improvement in temperate japonica rice.

Complete Mitochondrial Genome Sequence and Genetic Diversity of Duroc Breed (돼지 Duroc 품종에서 미토콘드리아 유전체 서열의 특성과 집단의 유전적 다양성)

  • Cho, 1.C.;Han, S.H.;Choi, Y.L.;Ko, M.S.;Lee, J.G;Lee, J.H;Jeon, J .T
    • Journal of Animal Science and Technology
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    • v.46 no.6
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    • pp.937-946
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    • 2004
  • Duroc is widely used to improve the meat quality and productivity. To elucidate the phylogenetic relation and the sequence specificity for the maternal property, the complete sequence of mitochondrial genome was determined and the population diversity of Duroc was investigated in this study. The length of mtDNA tested is 16,584-bp. There are several insertion/deletion mutations in the control region and coding regions for tRNA and rRNA, respectively, but not in peptide-coding regions. Four peptide-coding genes(COⅡ, COⅢ, ND3 and ND4) showed incomplete termination codon sequences such as T--, and two(ND2 and ND4L) did alternative initiation codons(AIC), respectively. Especially, the initiation codon sequences of ND2 gene were polymorphic in this population. Polymorphisms were detected in 11-bp duplication motif within control region as well as ND2 and CYTB. Variation patterns observed from the tests on three mtDNA regions were linked completely and then two haplotypes obtained from combining the data dividing this population. Duroc mtDNA is observed at the European pig cluster in the phylogenetic tree, however, the results from the population analyses supported previous opinions. This study suggests that the breed Duroc was mainly originated from the European pig lineage, and Asian lineage was also used to form the pig breed Duroc as maternal progenitors.