• Title/Summary/Keyword: genetic association studies

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Methodological Research in Development of Intelligence (지력증진(智力增進)에 관(關)한 방법론적(方法論的) 연구(硏究))

  • Kim Jang-Hyun
    • The Journal of Pediatrics of Korean Medicine
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    • v.13 no.2
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    • pp.93-110
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    • 1999
  • The intelligence is the capacity to recognize the things and implies the meaning of abstract thought, learning and adaptability to the circumstance. Recently, as the promotion of learning ablility and memory attracts many people's attention, many studies of this have been accomplished but the pharmacological methods could not promote the intelligence and memory. In oriental medical theory, the human body is composed of four elements - essence, energy, sprit, blood and among these elements, sprit is considered as the concept of vital energy and mind. Especially, from the Jang-Fu physiological point of view, the memory is closly related with the heart and kidney In oriental medicine, some experiments on animal and literature studies on the subject of memory promotion have done. But because of difference in memory mechanism between man and animal, it is not in reason to apply the result of experiment on animal to human. Therefore I have methodological study of memory promotion to set up the concept of oriental medicine and experimental theory about this and can obtain such conclusion. 1. The oriental medical therapy for memory promotion is following. nourishing the heart and blood, regulating the function of spleen, relieving the mental stress, reinforcing the heart and kidney, invigorating and enriching the blood. 2. The insufficient intelligence in a child is considered to not be full and in an old man, it is considered to decline by degrees. 3. It is needed to molecular biological study of neurotransmitter after the using of oriental medical therapy. 4. It is possible to study using the genetic mutation or observing the collateral of brain nerve cell.

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Seeing is Believing: Illuminating the Source of In Vivo Interleukin-7

  • Kim, Grace Yoon-Hee;Hong, Chang-Wan;Park, Jung-Hyun
    • IMMUNE NETWORK
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    • v.11 no.1
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    • pp.1-10
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    • 2011
  • Interleukin-7 (IL-7) is an essential cytokine for T cells. However, IL-7 is not produced by T cells themselves such that T cells are dependent on extrinsic IL-7. In fact, in the absence of IL-7, T cell development in the thymus as well as survival of naive T cells in the periphery is severely impaired. Furthermore, modulating IL-7 availability in vivo either by genetic means or other experimental approaches determines the size, composition and function of the T cell pool. Consequently, understanding IL-7 expression is critical for understanding T cell immunity. Until most recently, however, the spatiotemporal expression of in vivo IL-7 has remained obscured. Shortage of such information was partly due to scarce expression of IL-7 itself but mainly due to the lack of adequate reagents to monitor IL-7 expression in vivo. This situation dramatically changed with a recent rush of four independent studies that describe the generation and characterization of IL-7 reporter mice, all utilizing bacterial artificial chromosome transgene technology. The emerging consensus of these studies confirmed thymic stromal cells as the major producers of IL-7 but also identified IL-7 reporter activities in various peripheral tissues including skin, intestine and lymph nodes. Strikingly, developmental and environmental cues actively modulated IL-7 reporter activities in vivo suggesting that IL-7 regulation might be a new mechanism of shaping T cell development and homeostasis. Collectively, the availability of these new tools opens up new venues to assess unanswered questions in IL-7 biology in T cells and beyond.

Social Issues Arising from the Establishment of a National DNA Database (신원확인 유전자정보은행 설립을 둘러싼 쟁점 연구)

  • Kim Byoung-Soo
    • Journal of Science and Technology Studies
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    • v.3 no.2 s.6
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    • pp.83-104
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    • 2003
  • The use of DNA in identification is growing. The criminal DNA databases are in operation in some countries including the UK, Austria, Germany, and US. The militaries and law enforcement agencies in these countries have used the DNA profile. In Korea, DNA identification has been used in determining paternity and in criminal cases since the middle 1990's, and in recent years law enforcement agencies are promoting a national DNA database for identification. The DNA database threatens our civil liberties because of its potential to be used as an instrument of surveillance. Expanding the database puts increasing numbers of people on a 'list of suspects'. Nevertheless, there is little social concern about using DNA database for identification. This paper reviews social issues related to the establishment of DNA database and investigates the features of DNA profile and DNA Database establishment project promoted law enforcement agencies.

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Detection of Single Nucleotide Polymorphism in Human IL-4 Receptor by PCR Amplification of Specific Alleles

  • Hwang, Sue Yun;Kim, Seung Hoon;Hwang, Sung Hee;Cho, Chul Soo;Kim, Ho Youn
    • Animal cells and systems
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    • v.5 no.2
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    • pp.153-156
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    • 2001
  • A key aspect of genomic research in the “post-genome era”is to associate sequence variations with heritable phenotypes. The most common variations in the human genome are single nucleotide polymorphisms (SNPs) that occur approximately once in every 500 to 1,000 bases. Although analyzing the phenotypic outcome of these SNPs is crucial to facilitate large-scale association studies of genetic diseases, detection of SNPs from an extended number of human DNA samples is often difficult, labor-intensive and time-consuming. Recent development in SNP detection methods using DNA microarrays and mass spectrophotometry has allowed automated high throughput analyses, but such equipments are not accessible to many scientists. In this study, we demonstrate that a simple PCR-based method using primers with a mismatched base at the 3'-end provides a fast and easy tool to identify known SNPs from human genomic DNA in a regular molecular biology laboratory. Results from this PCR amplification of specific alleles (PASA) analysis efficiently and accurately typed the Q576R polymorphism of human IL4 receptor from the genomic DNAs of 29 Koreans, including 9 samples whose genotype could not be discerned by the conventiona1 PCR-SSCP (single strand conformation polymorphism) method. Given the increasing attention to disease-associated polymorphisms in genomic research, this alternative technique will be very useful to identify SNPs in large-scale population studies.

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XPD Lys751Gln and Asp312Asn Polymorphisms and Susceptibility to Skin Cancer: A Meta-Analysis of 17 Case-control Studies

  • Zhu, Hai-Li;Bao, Ji-Ming;Lin, Pei-Xin;Li, Wen-Xia;Zou, Zhen-Ning;Huang, Ye-En;Chen, Qing;Shen, Hong
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6619-6625
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    • 2014
  • Background: Numerous studies have explored the influence of XPD Lys751Gln and/or Asp312Asn polymorphisms on skin cancer susceptibility. However, the results remain inconclusive. To derive a more precise estimation, we conducted a comprehensive search to identify all available published studies and performed a meta-analysis. Materials and Methods: Electronic literature searches of the PubMed, CBM and CNKI databases were performed up to March 2014. Odds ratios (ORs) with 95% confidence intervals (CIs) were applied to assess the strength of associations. Results: Seventeen case-control studies were included with a total sample size of 6, 113 cases and 11, 074 controls for the XPD Lys751Gln polymorphism, and 10 studies (3, 840cases and 7, 637 controls) for the XPD Asp312Asn polymorphism were pooled for analysis. Overall, no significant associations were found between the XPD Lys751Gln polymorphism and skin cancer risk in any genetic model. On stratified analysis by tumor type, XPD Lys751Gln polymorphism was not associated with increased risk of non-melanoma skin cancer, but was significantly related with increased risk of cutaneous melanoma (Gln/Gln vs Lys/Lys: OR=1.15, 95%CI=1.02-1.29, p=0.023; dominant model: OR=1.09, 95%CI=1.01-1.18, p=0.036). For the XPD Asp312Asn polymorphism, no significant association with skin cancer risk was observed in overall or subgroup analyses. Conclusions: The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contribute to the risk of cutaneous melanoma from currently available evidence. Further investigations are needed to obtain more insight into possible roles of these two polymorphisms in skin carcinogenesis.

Interleukin-10 Polymorphisms in Association with Prognosis in Patients with B-Cell Lymphoma Treated by R-CHOP

  • Kim, Min Kyeong;Yoo, Kyong-Ah;Park, Eun Young;Joo, Jungnam;Lee, Eun Young;Eom, Hyeon-Seok;Kong, Sun-Young
    • Genomics & Informatics
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    • v.14 no.4
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    • pp.205-210
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    • 2016
  • Interleukin-10 (IL10) plays an important role in initiating and maintaining an appropriate immune response to non-Hodgkin lymphoma (NHL). Previous studies have revealed that the transcription of IL10 mRNA and its protein expression may be infl uenced by several single-nucleotide polymorphisms in the promoter and intron regions, including rs1800896, rs1800871, and rs1800872. However, the impact of polymorphisms of the IL10 gene on NHL prognosis has not been fully elucidated. Here, we investigated the association between IL10 polymorphisms and NHL prognosis. This study involved 112 NHL patients treated at the National Cancer Center, Korea. The median age was 57 years, and 70 patients (62.5%) were men. Clinical characteristics, including age, performance status, stage, and extra-nodal involvement, as well as cell lineage and International Prognostic Index (IPI), were evaluated. A total of four polymorphisms in IL10 with heterozygous alleles were analyzed for hazard ratios of overall survival (OS) and progression-free survival (PFS) using Cox proportional hazards regression analysis. Diffuse large B-cell lymphoma was the most common histologic type (n = 83), followed by T-cell lymphoma (n = 18), mantle cell lymphoma (n = 6), and others (n = 5). Cell lineage, IPI, and extra-nodal involvement were predictors of prognosis. In the additive genetic model results for each IL10 polymorphism, the rs1800871 and rs1800872 polymorphisms represented a marginal association with OS (p = 0.09 and p = 0.06) and PFS (p = 0.05 and p = 0.08) in B-cell lymphoma patients treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP). These findings suggest that IL10 polymorphisms might be prognostic indicators for patients with B-cell NHL treated with R-CHOP.

Association of a Polymorphism in the Promoter Region of Apo-1/Fas Gene with Bipolar Disorder (양극성 장애 환자에서 Apo-1/Fas Promoter 유전자 다형성)

  • Kim, Kyu Hyun;Son, So-Jeong;Lee, Hee Jae;Kim, Jong Woo;Chung, Joo-Ho
    • Korean Journal of Biological Psychiatry
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    • v.10 no.2
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    • pp.121-125
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    • 2003
  • Objective:Recently, many experimental evidences have been reported that psychiatric diseases are closely related with neurodevelopmental abnormalities and this can be properly explained by apoptosis. It is known that Apo-1/Fas is one of the genes in charge of apoptosis related with neurodevelopmental abnormalities. In this study, the association between bipolar disorder and functional polymorphism in Apo-1/Fas promoter gene has been investigated. Method:For 81 bipolar disorder patients and 217 healthy control subjects, MvaI restriction fragment length polymorphism(RFLP) of Apo-1/Fas promoter gene was analyzed after polymerase chain reaction(PCR) amplification. Result:There was a statistical significant difference in genotypic distribution(${\chi}^2$=16.656, df=2, p=0.0002) and allelic frequencies(${\chi}^2$=14.225, df=1, p=0.0002) between bipolar disorder patients and healthy control subjects. Conclusion:Our results suggest an association between functional polymorphism in Apo-1/Fas promoter gene and bipolar disorder and provide the important genetic information related with the pathogenesis of the disease. Further studies employing larger samples are required to clarify the present results.

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Genome-Wide Association Study of Orthostatic Hypotension and Supine-Standing Blood Pressure Changes in Two Korean Populations

  • Hong, Kyung-Won;Kim, Sung Soo;Kim, Yeonjung
    • Genomics & Informatics
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    • v.11 no.3
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    • pp.129-134
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    • 2013
  • Orthostatic hypotension (OH) is defined by a 20-mm Hg difference of systolic blood pressure (dtSBP) and/or a 10-mm Hg difference of diastolic blood pressure (dtDBP) between supine and standing, and OH is associated with a failure of the cardiovascular reflex to maintain blood pressure on standing from a supine position. To understand the underlying genetic factors for OH traits (OH, dtSBP, and dtDBP), genome-wide association studies (GWASs) using 333,651 single nucleotide polymorphisms (SNPs) were conducted separately for two population-based cohorts, Ansung (n = 3,173) and Ansan (n = 3,255). We identified 8 SNPs (5 SNPs for dtSBP and 3 SNPs for dtDBP) that were repeatedly associated in both the Ansung and Ansan cohorts and had p-values of < $1{\times}10^{-5}$ in the meta-analysis. Unfortunately, the SNPs of the OH case control GWAS did not pass our p-value criteria. Four of 8 SNPs were located in the intergenic region of chromosome 2, and the nearest gene (CTNNA2) was located at 1 Mb of distance. CTNNA2 is a linker between cadherin adhesion receptors and the actin cytoskeleton and is essential for stabilizing dendritic spines in rodent hippocampal neurons. Although there is no report about the function in blood pressure regulation, hippocampal neurons interact primarily with the autonomic nervous system and might be related to OH. The remaining SNPs, rs7098785 of dtSBP trait and rs6892553, rs16887217, and rs4959677 of dtDBP trait were located in the PIK3AP1 intron, ACTBL2-3' flanking, STAR intron, and intergenic region, respectively, but there was no clear functional link to blood pressure regulation.

Replication of the Association between Copy Number Variation on 8p23.1 and Autism by Using ASD-specific BAC Array

  • Woo, Jung-Hoon;Yang, Song-Ju;Yim, Seon-Hee;Hu, Hae-Jin;Shin, Myung-Ju;Oh, Eun-Hee;Kang, Hyun-Woong;Park, Seon-Yang;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.8 no.1
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    • pp.19-27
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    • 2010
  • To discover genetic markers for autism spectrum disorder (ASD), we previously applied genome-wide BAC array comparative genomic hybridization (array-CGH) to 28 autistic patients and 62 normal controls in Korean population, and identified that chromosomal losses on 8p23.1 and on 17p11.2 are significantly associated with autism. In this study, we developed an 8.5K ASD-specific BAC array covering 27 previously reported ASD-associated CNV loci including ours and examined whether the associations would be replicated in 8 ASD patient cell lines of four different ethnic groups and 10 Korean normal controls. As a result, a CNV-loss on 8p23.1 was found to be significantly more frequent in patients regardless of ethnicity (p<0.0001). This CNV region contains two coding genes, DEFA1 and DEFA3, which are members of DEFENSIN gene family. Two other CNVs on 17p11.2 and Xp22.31 were also distributed differently between ASDs and controls, but not significant (p=0.069 and 0.092, respectively). All the other loci did not show significant association. When these evidences are considered, the association between ASD and CNV of DEFENSIN gene seems worthy of further exploration to elucidate the pathogenesis of ASD. Validation studies with a larger sample size will be required to verify its biological implication.

Lack of Association between an XRCC1 Gene Polymorphism and Colorectal Cancer Survival in Thailand

  • Siewchaisakul, Pallop;Suwanrungruang, Krittika;Poomphakwaen, Kirati;Wiangnon, Surapon;Promthet, Supannee
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.4
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    • pp.2055-2060
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    • 2016
  • Background: Colorectal cancer (CRC) is one of the most common causes of death worldwide and in Thailand. The X-ray repair cross-complementary protein 1 (XRCC1) is required for efficient DNA repair. The effects of this gene on survival in colorectal cancer remain controversial and have not been reported in Thailand. The aim of this study was to investigate the association of the XRCC1 gene with survival of colorectal cancer patients in a Thai population. Materials and Methods: Data and blood samples were collected from 255 newly diagnosed and pathologically confirmed CRC patients who were recruited during the period 2002 to 2006 and whose vital status was followed up until 31 October, 2014. Real-time PCR-HRM was used for genotype identification. The Kaplan-Meier method, the log-rank test, and Cox proportional hazard regression were used to estimate cumulative survival curves and compare various survival distributions and adjusted hazard ratios. Results: Most of the cases were males, and the median age was 55 years. The median survival time was 2.43 years. The cumulative 1-, 3-, 5-, 7-, and 10 year survival rates were 76.70%, 39.25%, 26.50%, 16.60% and 3.56%, respectively. After adjustment, female gender, ages 50-59 and ${\geq}60years$, tumour stage III+IV, a signet-ring cell carcinoma, and poor differentiation had significant associations with increased risk of CRC death. While the XRCC1 Arg/Arg homozygote appeared to be a risk factor for CRC death, the association was not significant. Conclusions: The genetic variant in the XRCC1 may not be associated with the survival of CRC patients in Thailand. Further studies are needed to verify our findings.