• Title/Summary/Keyword: Genetic interaction

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The ICAM-1 Gly241Arg Polymorphism is Not Associated With Polycystic Ovary Syndrome - Results from a Case Control study in Kashmir, India

  • yousuf, Syed Douhath;Ganie, Mohammad Ashraf;Zargar, Mohammad Afzal;Parvez, Tabasum;Rashid, Fouzia
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.3
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    • pp.1583-1588
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    • 2016
  • Background: Polycystic ovary syndrome (PCOS) is considered to be a multifactorial disorder resulting from the interaction of several predisposing and protective genetic variants. PCOS is associated with low-grade chronic inflammation. Elevated levels of inflammatory markers including intercellular adhesion molecule-1 (ICAM-1) are demonstrated in women with PCOS. Recent evidence indicates a significant linkage between a locus on chromosome 19p13 and multifactorial diseases that have an inflammatory component. The aim of the study was to assess the possible association of Gly241Arg polymorphism of ICAM-1 gene located on chromosome 19p13 in determining risk of PCOS in Kashmiri women. Materials and Methods: Gly241Arg SNP in DNA from peripheral blood leukocytes of 220 PCOS cases and 220 age matched non-PCOS healthy controls was analysed using allel specific PCR. Results: The genotype and allele frequency distributions of Gly241Arg SNP showed insignificant difference between the PCOS cases and control women, indicating no role of this SNP in PCOS susceptibility. The odds ratio for Arg/Arg genotype was 0.87 (95% CI=0.32-2.3) [P=0.79], for Gly/Arg genotype was 0.98 (95% CI= 0.66-1.47) [P=1] and for Arg/Arg+Gly/Arg genotype was 0.97 (95% CI=0.65-1.45) [P=0.92]. The genotypic frequencies of ICAM-1codon 241 showed statistically insignificant difference between cases and controls (${\chi}^2=0.07$; p=0.96) Nor the studied polymorphism was found to affect clinical and laboratory parameters significantly. Conclusions: Although Gly241Arg polymorphism have not shown significant association with PCOS. Further, specifically designed studies on large cohorts are required to conclusively establish any role of ICAM-1 gene polymorphisms in PCOS in our study.

PRaDA : Web-based analyzer for Pathway Relation and Disease Associated SNP (웹 기반 단일염기다형성 연관 패스웨이 분석 도구)

  • Yu, Kijin;Park, Soo Ho;Ryu, Keun Ho
    • Journal of Digital Contents Society
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    • v.19 no.9
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    • pp.1795-1801
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    • 2018
  • Genome-Wide Association Study (GWAS) have been used to identify susceptibility genes for complex human diseases and many recent studies succeed to report common genetic factors for various diseases. Unfortunately, it is hard to understand all biological functions and mechanisms around the complex disease with GWAS only although the number of known associated genes with diseases is increased drastically because GWAS is a single locus based approach while not a gene but numerous factors may affect a disease associated pathways. PRaDA generates a combined report with genes, pathways and Gene Ontology (GO) using single nucleotide polymorphism (SNP) analysis output. The PRaDA reports not only directly associated pathways but also functionally related ones for identifying accumulated effects of low p-value SNPs. Through integrated information including indirect functional effects, user could have insights of overall disease mechanisms and markers.

Zebrafish as a Tool for Function Genomics (제브라피쉬를 이용한 새로운 유전자의 발굴 및 기능분석)

  • Kim Hyun Taek;Kim Cheol Hee
    • Development and Reproduction
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    • v.7 no.2
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    • pp.69-80
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    • 2003
  • The zebrafish(Danio rerio) is a pre-eminent vertebrate model system for clarification of the roles of specific genes and signaling pathways in development. We show examples of positional cloning in two developmental mutants in zebrafish. headless: The severe head defects in headless(hdl) mutants are due to a mutation in T-cell factor-3(Tcf3). Loss of Tcf3 function in the hdl mutant reveals that Hdl represses Wnt target genes. The results provide genetic evidence that a component of the Wnt signaling pathway is essential in vertebrate head formation and patterning. mind bomb: Reduced lateral inhibition in mind bomb(mib) mutants permits too many neural precursors to differentiate as neurons. Positional cloning of mib revealed that it is a gene in the Notch pathway that encodes a ubiquitin E3 ligase. Mib interacts with the intracellular domain of Delta to promote its internalization. The results suggest a model for Notch activation where the Delta-Notch interaction is followed by endocytosis of Delta and transendocytosis of the Notch extracellular domain by the signaling cell.

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Association of Calcium Intake and Bone Mineral Density by Vitamin D Receptor Genotype among Elderly Women Living in Rural a Area (노년기 농촌여성의 비타민 D 수용체 유전자형에 따른 칼슘 섭취량과 골밀도와의 관계)

  • Kim Ji-Sun;Kim Hee-Seon
    • Korean Journal of Community Nutrition
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    • v.11 no.4
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    • pp.534-540
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    • 2006
  • Recent studies have shown that environmental, biochemical, nutritional or genetic factors affect bone mineral density (BMD). The purpose of the present study was to investigate the effect of vitamin D receptor (VDR) gentotype and nutritional status on BMD of elderly women living in a rural area. Three hundred thirty five elderly women over 65 years in Asan participated the study. Data for demographic and nutrient intakes were obtained by survey with a two day 24 hr recall method. BMD was measured by broadband ultrasound attenuation (BUA) using quantitative ultrasound (QUS). VDR genotypes of the subjects analyzed with Bsm I restriction enzyme were bb (92%), Bb (7%) and BB (1%). No differences were found between genotypes bb and Bb/BB in age, menopausal age, body mass index and body fat. BUA of bb genotype was higher (62.5 $\pm$ 15.6 dB/MHz) than Bb/BB genotype (56.1 $\pm$ 17.6 dB/MHz) by Student's t-tests. Correlation analyses showed strong negative correlation of BMD and age, but positive correlation with BMI, energy and calcium intake. When subgroup analyses were conducted after stratification by the median calcium intake level (412.9 mg/d), the above median calcium intake group showed significant difference in BUA by VDR genotype while the lower median calcium intake group did not show significant difference. The current study confirmed interaction of calcium intake and VDR genotype in association with BMD. Further nutritional intervention will be needed to improve calcium status of the elderly women living in rural areas.

Genetic Variation in Glutamate Carboxypeptidase II and Interaction with Dietary Natural Vitamin C May Predict Risk for Adenomatous Polyp Occurrence

  • Choi, Jeong-Hwa;Yates, Zoe;Martin, Charlotte;Boyd, Lyndell;Ng, Xiaowei;Skinner, Virginia;Wai, Ron;Kim, Jeongseon;Woo, Hae Dong;Veysey, Martin;Lucock, Mark
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.10
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    • pp.4383-4386
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    • 2015
  • Background: The C1561T variant of the glutamate carboxypeptidase II (GCPII) gene is critical for natural methylfolylpolyglutamte (methylfolate) absorption, and has been associated with perturbations in folate metabolism and disease susceptibility. However, little is known on C1561T-GCPII as a risk factor for colorectal cancer. Therefore, this study examined whether C1561T-GCPII influences folate metabolism and adenomatous polyp occurrence. Materials and Methods: 164 controls and 38 adenomatous polyp cases were analysed to determine blood folate and plasma homocysteine (Hcy) level, dietary intake of natural methylfolate, synthetic pteroylglutamic acid (PteGlu), vitamin C and C1561T-GCPII genotype. Results: In controls and cases, 7.3 and 18.4 percent of subjects respectively, were found to have the CT genotype, increasing the risk for adenomatous polyp occurrence 2.86 times (95% CI:1.37-8.0, p=0.035). Total dietary folate, methylfolate and PteGlu intake and the level of erythrocyte folate and plasma Hcy did not predict the occurrence of an adenomatous polyp. However, dietary natural vitamin C intake was associated with adenomatous polyp risk within C1561T-GCPII CT genotype subjects (p=0.037). Conclusions: The findings suggest that C1561T-GCPII variation may be associated with risk for adenomatous polyp, and vitamin C may modify risk by interacting with the variant gene, its expression product and/or folate substrates.

rs12904 Polymorphism in the 3'UTR of EFNA1 is Associated with Colorectal Cancer Susceptibility in a Chinese Population

  • Mao, Ying-Ying;Jing, Fang-Yuan;Jin, Ming-Juan;Li, Ying-Jun;Ding, Ye;Guo, Jing;Wang, Fen-Juan;Jiang, Long-Fang;Chen, Kun
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.9
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    • pp.5037-5041
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    • 2013
  • Accumulated evidence has indicated that Ephrin A1 (EFNA1) is associated with angiogenesis and tumorigenesis in various types of malignancies, including colorectal cancer (CRC). In the current study, we performed an online search using the public microarray database to investigate whether EFNA1 expression might be altered in CRC tissues. We then conducted a case-control study including 306 subjects (102 cases and 204 well-matched controls) in Xiaoshan County to assess any association between genetic polymorphisms in EFNA1 and CRC susceptibility. Searches in the Oncomine expression profiling database revealed EFNA1 to be overexpressed in CRC tissue compared with adjacent normal tissue. The rs12904 G-A variant located in the 3' untranslated region (UTR) of EFNA1 was observed to be associated with CRC susceptibility. Compared with the AA homozygous genotype, those carrying GA genotype had a decreased risk of developing CRC (odds ratio (OR)=0.469, 95% confidence interval (CI): 0.225-0.977, and P=0.043). The association was stronger among smokers and tea drinkers, however, no statistical evidence of interaction between rs12904 polymorphism and smoking or tea drinking on CRC risk was found. Our results suggest that EFNA1 is involved in colorectal tumorigenesis, and rs12904 A>G polymorphism in the 3' UTR of EFNA1 is associated with CRC susceptibility. Larger studies and further mechanistic investigations are warranted to confirm our findings.

A Review of Pharmacological Effects of Angelica gigas, Angelica sinensis, Angelica acutiloba and their Bioactive Compounds (참당귀, 중국당귀, 일당귀 및 그 구성 생화합물의 약리작용에 대한 고찰)

  • Kim, Sun-Ae;Oh, Hye-Kyung;Kim, Ji-Young;Hong, Jin-Woo;Cho, Su-In
    • The Journal of Korean Medicine
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    • v.32 no.4
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    • pp.1-24
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    • 2011
  • Backgrounds: Danggui, one of the major herbs in Korean traditional medicine consists of three species: Angelica gigas of Korea, Angelica sinensis of China, and Angelica acutiloba of Japan. Despite its importance in Korean traditional medicine, recognition of the clinical differences between its three species is insufficient. Objectives: The purpose of the present review is to suggest evidence in using Angelica gigas, Angelica sinensis, and Angelica acutiloba distinctively in clinic, by comparing their pharmacological effects and bioactive compounds. Methods: We searched articles published from 2000 to 2009 in Pubmed, EMbase, and RISS. The search keywords were "Angelica gigas", "Angelica sinensis", "Angelica acutiloba", "dongquei", "toki", "Angelicae Radix", "Archangelica officinalis Hoffm.", "Garden Angelica", "Chinese angelica root", "tangkuei", and "danggui". 861 articles were searched. Among them, we selected 143 articles which met our inclusion criteria. Results: This review summarizes active constituents, experimental studies, clinical studies, pharmacokinetics, side effects and toxicity, drug interaction, and industrial use of Angelica gigas, Angelica sinensis, and Angelica acutiloba. Conclusions: While Angelica sinensis and Angelica acutiloba are relatively similar, Angelica gigas is quite different from the others in main active constituents and genetic form. The main experimental studies of Danggui are cardiovascular studies, central nervous system studies and anti-cancer activity. Even though there were cases in which the three species show similar pharmacological effects, the mechanism was not always shared. Therefore, distinguished use of Angelica gigas, Angelica sinensis and Angelica acutiloba is needed.

Current status on expression profiling using rice microarray (벼 microarray를 이용한 유전자발현 profiling 연구동향)

  • Yoon, Ung-Han;Kim, Yeon-Ki;Kim, Chang-Kug;Hahn, Jang-Ho;Kim, Dong-Hern;Lee, Tae-Ho;Lee, Gang-Seob;Park, Soo-Chul;Nahm, Baek-Hie
    • Journal of Plant Biotechnology
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    • v.37 no.2
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    • pp.144-152
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    • 2010
  • As the International Rice Genome Sequencing Project (IRGSP) was completed in 2005 and opened to the public, many countries are making a lot of investments in researches on the utilization of sequence information along with system development. Also, the necessity of the functional genomics researches using microarray is increased currently to secure unique genes related with major agricultural traits and analyze metabolic pathways. Microrarray enables efficient analysis of large scale gene expression and related transcription regulation. This review aims to introduce available microarrays made based on rice genome information and current status of gene expression analysis using these microarrays integrated with the databases available to the public. Also, we introduce the researches on the large scale functional analysis of genes related with useful traits and genetic networks. Understanding of the mechanism related with mutual interaction between proteins with co-expression among rice genes can be utilized in the researches for improving major agricultural traits. The direct and indirect interactions of various genes would provide new functionality of rice. The recent results of the various expression profiling analysis in rice will promote functional genomic researches in plants including rice and provide the scientists involved in applications researches with wide variety of expression informations.

Prospect and Roles of Molecular Ecogenetic Techniques in the Ecophysiological Study of Cyanobacteria (남조류의 생리·생태 연구에서 분자생태유전학적 기법의 역할 및 전망)

  • Ahn, Chi-Yong
    • Korean Journal of Ecology and Environment
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    • v.51 no.1
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    • pp.16-28
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    • 2018
  • Although physiological and ecological characteristics of cyanobacteria have been studied extensively for decades, unknown areas still remain greater than the already known. Recently, the development of omics techniques based on molecular biology has made it possible to view the ecosystem from a new and holistic perspective. The molecular mechanism of toxin production is being widely investigated, by comparative genomics and the transcriptomic studies. Biological interaction between bacteria and cyanobacteria is also explored: how their interactions and genetic biodiversity change depending on seasons and environmental factors, and how these interactions finally affect each component of ecosystem. Bioinformatics techniques have combined with ecoinformatics and omics data, enabling us to understand the underlying complex mechanisms of ecosystems. Particularly omics started to provide a whole picture of biological responses, occurring from all layers of hierarchical processes from DNA to metabolites. The expectation is growing further that algal blooms could be controlled more effectively in the near future. And an important insight for the successful bloom control would come from a novel blueprint drawn by omics studies.

Analyses on Physiological Meanings of Yin Yang through Comparison of Ying-Wei Theory and Sleep-Awakening System (영위생리와 각성.수면시스템의 비교를 통한 음양(陰陽)의 함의(含意) 분석)

  • Lee Sang-Man;Eom Hyun-Sup;Chi Gyoo-Yong
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.19 no.5
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    • pp.1154-1161
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    • 2005
  • Yin Yang theory is the first and the last one to interpret diseases apply to treatment in oriental medicine. So it is regarded as the way of heaven and earth, the discipline of all things, the origin of change, the beginning of giving birth and death, the source of spirit. These regulatory passages are needed to compare with western medical physiology and analyzed whether it has scientific bases or not. The Yin Yang theory of traditional oriental medicine are summerized from the descriptions of Scripture of Documents, Ying Wei theory of Huangdi Neijing. Meanwhile up-to-date neurobiological and molecular genetic theories on circadian physiology are reviewed in western medicine. Sunshine is transferred through RGC to SCN, herein the central circadian rhythm is made by zeitgeber and interaction of melatonin secreted from pineal body and orexin from mp pan of hypothalamus. So HPA axis is activated and controlled under the circadian rhythm and affects peripheral tissues and cells of whole body through glucocorticoid hormones. First of all, the circadian rhythm makes the basic patterns of human life in biological and sociological meaning. It is almost same context with the record of the Scripture of Documents. Also the Ying Qi and Wei Qi is basically same with the sleep-awake mechanism, that is melatonin/orexin signal or per/clk/bmal/cry genes with circadian activation and activity of each organ's physiological function. Conclusively it can be said that Yin Yang is a priori principle of living things and the beginning of giving birth and death for activation of them biologically, as is described in Huangdi Neijing.