• Title/Summary/Keyword: healthy society

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Diagnostic testing for Duchenne/Becker Muscular dystrophy using Dual Priming Oligonucleotide (DPO) system (Dual Priming Oligonucleotide (DPO) system을 이용한 듀시엔/베커형 근이영양증 진단법)

  • Kim, Joo-Hyun;Kim, Gu-Hwan;Lee, Jin-Joo;Lee, Dae-Hoon;Kim, Jong-Kee;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.15-20
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    • 2008
  • Purpose : Large exon deletions in the DMD gene are found in about 60% of DMD/BMD patients. Multiplex PCR has been employed to detect the deletion mutation, which frequently generates noise PCR products due to the presence of multiple primers in a single reaction as well as the stringency of PCR conditions. This often leads to a false-negative or false-positive result. To address this problematic issue, we introduced the dual primer oligonucleotide (DPO) system. DPO contains two separate priming regions joined by a polydeoxyinosine linker that results in high PCR specificity even under suboptimal PCR conditions. Methods : We tested 50 healthy male controls, 50 patients with deletion mutation as deletion-positive patient controls, and 20 patients with no deletions as deletion-negative patient controls using DPO-multiplex PCR. Both the presence and extent of deletion were verified by simplex PCR spanning the promoter region (PM) and 18 exons including exons 3, 4, 6, 8, 12, 13, 17, 19, 43-48, 50-52, and 60 in all 120 controls. Results : DPO-multiplex PCR showed 100% sensitivity and specificity for the detection a deletion. However, it showed 97.1% sensitivity and 100% specificity for determining the extent of deletions. Conclusion : The DPO-multiplex PCR method is a useful molecular test to detect large deletions of DMD for the diagnosis of patients with DMD/BMD because it is easy to perform, fast, and cost-effective and has excellent sensitivity and specificity.

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Polymorphisms of 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T) and Methionine Synthase Reductase (MTRR A66G) as Maternal Risk Factors for Fetal Aneuploidy (태아의 염색체의 수적 이상을 유발하는 모계 위험인자로서 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T)와 Methionine Synthase Reductase (MTRR A66G) 유전자의 다형성 연구)

  • Kim, Do-Jin;Kim, Shin-Young;Park, So-Yeon;Kim, Jin-Woo;Kim, Moon-Young;Han, Joung-Yeol;Yang, Jae-Hyug;Ahn, Hyun-Kyong;Choi, Jun-Seek;Chung, Jin-Hoon;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.119-124
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    • 2008
  • Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.

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Structural Relationships Among Factors to Adoption of Telehealth Service (원격의료서비스 수용요인의 구조적 관계 실증연구)

  • Kim, Sung-Soo;Ryu, See-Won
    • Asia pacific journal of information systems
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    • v.21 no.3
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    • pp.71-96
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    • 2011
  • Within the traditional medical delivery system, patients residing in medically vulnerable areas, those with body movement difficulties, and nursing facility residents have had limited access to good healthcare services. However, Information and Communication Technology (ICT) provides us with a convenient and useful means of overcoming distance and time constraints. ICT is integrated with biomedical science and technology in a way that offers a new high-quality medical service. As a result, rapid technological advancement is expected to play a pivotal role bringing about innovation in a wide range of medical service areas, such as medical management, testing, diagnosis, and treatment; offering new and improved healthcare services; and effecting dramatic changes in current medical services. The increase in aging population and chronic diseases has caused an increase in medical expenses. In response to the increasing demand for efficient healthcare services, a telehealth service based on ICT is being emphasized on a global level. Telehealth services have been implemented especially in pilot projects and system development and technological research. With the service about to be implemented in earnest, it is necessary to study its overall acceptance by consumers, which is expected to contribute to the development and activation of a variety of services. In this sense, the study aims at positively examining the structural relationship among the acceptance factors for telehealth services based on the Technology Acceptance Model (TAM). Data were collected by showing audiovisual material on telehealth services to online panels and requesting them to respond to a structured questionnaire sheet, which is known as the information acceleration method. Among the 1,165 adult respondents, 608 valid samples were finally chosen, while the remaining were excluded because of incomplete answers or allotted time overrun. In order to test the reliability and validity of the assessment scale items, we carried out reliability and factor analyses, and in order to explore the causal relation among potential variables, we conducted a structural equation modeling analysis using AMOS 7.0 and SPSS 17.0. The research outcomes are as follows. First, service quality, innovativeness of medical technology, and social influence were shown to affect perceived ease of use and perceived usefulness of the telehealth service, which was statistically significant, and the two factors had a positive impact on willingness to accept the telehealth service. In addition, social influence had a direct, significant effect on intention to use, which is paralleled by the TAM used in previous research on technology acceptance. This shows that the research model proposed in the study effectively explains the acceptance of the telehealth service. Second, the research model reveals that information privacy concerns had a insignificant impact on perceived ease of use of the telehealth service. From this, it can be gathered that the concerns over information protection and security are reduced further due to advancements in information technology compared to the initial period in the information technology industry, and thus the improvement in quality of medical services appeared to ensure that information privacy concerns did not act as a prohibiting factor in the acceptance of the telehealth service. Thus, if other factors have an enormous impact on ease of use and usefulness, concerns over these results in the initial period of technology acceptance may become irrelevant. However, it is clear that users' information privacy concerns, as other studies have revealed, is a major factor affecting technology acceptance. Thus, caution must be exercised while interpreting the result, and further study is required on the issue. Numerous information technologies with outstanding performance and innovativeness often attract few consumers. A revised bill for those urgently in need of telehealth services is about to be approved in the national assembly. As telemedicine is implemented between doctors and patients, a wide range of systems that will improve the quality of healthcare services will be designed. In this sense, the study on the consumer acceptance of telehealth services is meaningful and offers strong academic evidence. Based on the implications, it can be expected to contribute to the activation of telehealth services. Further study is needed to assess the acceptance factors for telehealth services, such as motivation to remain healthy, health care involvement, knowledge on health, and control of health-related behavior, in order to develop unique services according to the categorization of customers based on health factors. In addition, further study may focus on various theoretical cognitive behavior models other than the TAM, such as the health belief model.

Fundamental Studies for the Breeding of Marine Algae 3. Effects of Plant Hormones on the Growth of Porphyra-fronds (해조의 육종을 위한 기초적 연구 3. 김 엽체에 미치는 식물호르몬의 생장효과)

  • KIM Joong-Rae;JO Young-Won;HAN Chang-Yeal;LEE Man-Sang
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.14 no.2
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    • pp.79-85
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    • 1981
  • As one of the fundamental studies for the breeding of marine algae, the effects of several plant hormones (IAA, Gibberellin, 2.4-D, NAA, Kinetin) on the growth of Porphyra-fronds, P. tenera Kjell. form tamatsuensis Miura, were investigated from January 21 to February 21 1981. The fronds used for the experiment were dissected out at $25mm^2$ size, and cultured in modified Provasoli's ESP medium supplemented with various concentrations of each plant growth regulators. The culture was kept under constant water temperature of $5^{\circ}C$ in 14 hrs. photoperiod and illuminated with 2,400 lux by fluorescent light. Based on the results of first experiment, the culture of fronds for the secondary experiment was carried out at $5^{\circ}C\;and\;10^{\circ}C$ in medium containing various levels of Kinetin from April 6 to 24, and compared the growth of two groups at each concentrations with each other, The results obtained are summarized as follows : (1) The best growth efficiencies were observed at 5.0mg/1 of each plant hormones except Gibberellin. Among them, the highest growth-rate was $312.5\%\;(345.3\%\;in\;frond\;size)$ in contrast with control at 5.0mg/1 of Kinetin, and was followed by $257.5\%\;(236.1\%)$ in 2.4-D,$166.7\%(147.6\%)$ in IAA and $141.7\%\;(167.7\%)$ in NAA, but that in Gibberellin was $247.9\%(241.9\%)$ at 10.0mg/l. (2) Especially, the fronds cultured at 5.0mg/1 of Kinetin were deep black-brown in colour, and had vivid, healthy chloroplasts in their all cells. On the contrary, the fronds cultured in other media were discoloured to light black-brown or green-drown, and almost all cells were vacuolated or shrunk gradually into death.(3) There was an obvious difference between the best growth-rates of the fronds cultured at 5.0mg/l of Kinetin at $5^{\circ}C$ and those at $10^{\circ}C$. The former was $366.7\%$, the latter $318.8\%$ but the difference was little at lower concentrations. (4) Many abnormal cells grown up to $25.0-27.5\mu$ in diameter were found among the marginal cells of fronds which showed the best growth in Kinetin, and the fronds wire $41.0-42.0\mu$ in thickness which was thicker by $10.0\mu$ or so than the others. (5) In two fronds at 1.0mg/1 of Kinetin cell-divisions were observed, which might developed into antheridium, but it was doubtful whether due to the efficiency of Kinetin.

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Effect of GB 34-GB 39 Electro-acupuncture on Regional Cerebral Blood Flow in Stroke Patients and Normal Volunteers Evaluated by $^{99m}Tc-ECD$ SPECT (양릉천-현종 전침치료가 뇌경색환자 및 정상인의 뇌혈류에 미치는 영향 - SPECT와 SPM을 이용한 연구 -)

  • Han, Jin-An;Jeong, Dong-Won;Bae, Hyung-Sup;Park, Sung-Uk;Jung, Woo-Sang;Park, Jung-Mee;Ko, Chang-Nam;Cho, Ki-Ho;Kim, Young-Suk;Kim, Deok-Yoon;Moon, Sang-Kwan
    • The Journal of Korean Medicine
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    • v.27 no.3 s.67
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    • pp.187-200
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    • 2006
  • Objectives: Acupuncture has been applied in Asia for thousands of years, especially to rehabilitation after stroke. It has been reported that acupuncture increased cerebral blood supply and stimulated the functional activity of brain nerve cells shown by using brain imaging techniques. This study was to evaluate the effect of GB 34-GB 39 electro-acupuncture (EA) on regional cerebral blood flow (rCBF) in stroke patients and normal volunteers using single photon emission computed tomography (SPECT). Methods: The study procedure was divided into two parts: patients and volunteers studies. For the patients study, ten ischemic stroke patients (3 males, 7 females, mean age $68.5{\pm}8.9$ years old) were selected. Baseline brain SPECT was done with triple head gamma camera (MultiSPECT3, Siemens, USA) after intravenous administration of 1,110 MBq of $^{99m}Tc-ECD$. Fifteen-minute EA at GB 34 and GB 39 were applied on the affected limb. The same dose of $^{99m}Tc-ECD$ was injected during the EA, and the second set of SPECT images wasobtained. Using the computer software (ICON 7.1, Siemens, USA), 3 SPECT slices (upper, middle, lower) surrounding the brain lesion were selected and each slice was divided into 10-16 brain regions. Asymmetry indexes (AI) were analyzed in each brain region. We regarded over 10% changes of AI between before and after EA as significance. For the volunteers study, 10 healthy human volunteers (5 males, 5 females, mean age $28.1{\pm}6$ years old) were selected. In the resting state, $^{99m}Tc-ECD$ brain SPECT scans were performed. On the 7th day after the resting examination, 15 minute EA was applied at GB 34 and GB 39 on the right side of the subjects. Immediately after EA, the second SPECT images were obtained inthe same manner as the resting state. Significant increases and decreases of rCBF after EA were estimated by comparing their SPECT images with those of the resting state using paired t statistics at every voxel, which were analyzed by statistical parametric mapping with a threshold of p = 0.01, uncorrected (extent threshold: k=100 voxels). Results: In stroke patients, six of the eight (75%) had significantly increased perfusion in post-acupuncture scans compared to their baseline state. In normal volunteers, GB 34-GB GB EA increased rCBF in both hemispheres including right ventral posterior cingulate (Brodmann area (BA) 23), left superior temporal, anterior transverse temporal (BA 22, 41), left parastriate, peristriate (BA 18, 19), right occipitotemporal, angular (BA 37, 39), left rostral postcentral, caudal postcentral and preparietal (BA 2, 3, 5). However GB 34-GB 39 EA decreased rCBF in the right hemisphere including triangular and middle frontal lobes. Conclusions: The results demonstrated that OB 34-GB 39 EA increased cerebral perfusion in ischemic stroke patients and increased rCBF grossly in temporal lobes of normal volunteers. It is also suggested that there may be a correlation between the GB meridian and the territory of the middle cerebral artery.

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Effects of Korean Ginseng, Korean Red Ginseng and Fermented Korean Red Ginseng on Cerebral Blood Flow, Cerebrovascular Reactivity, Systemic Blood Pressure and Pulse Rate in Humans (인삼, 홍삼 및 발효 홍삼이 정상인의 뇌혈류, 평균혈압, 맥박수에 미치는 영향)

  • Jeong, Dong-Won;Hong, Jin-Woo;Shin, Won-Jun;Park, Young-Min;Jung, Jae-Han;Kim, Chang-Hyun;Min, In-Kyu;Park, Seong-Uk;Jung, Woo-Sang;Park, Jung-Mi;Go, Chang-Nam;Cho, Ki-Ho;Moon, Sang-Kwan
    • The Journal of Korean Medicine
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    • v.27 no.3 s.67
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    • pp.38-50
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    • 2006
  • Objectives: The aim of this study was to evaluate the effects of Korean ginseng (KG), Korean red ginseng (KRG) and fermented Korean red ginseng (FKRG) extracts on cerebral hemodynamics and to compare distinction of each extract. Methods: Ten healthy male volunteers $(26.0{\pm}1.8yrs)$ participated in the study according to double-blind and cross-over protocols. Each volunteer was blindly administered 500mg of KG, KRG, FKRG extract or placebo (Dextrin). Blinded researchers measured changes of hyperventilation-induced cerebrovascular reactivity (CVR), mean blood flow velocity (MBFV) of middle cerebral arteries (MCAs) and corrected blood flow velocity at $P_{ETCO2}=40mmHg$ (CV40) using transcranial Doppler ultrasound (DWL Co., Germany). Researchers also observed changes of mean blood pressure (MBP), pulse rate (PR) and expiratory $CO_2$ using S/5 Collector (Datex-Ohmeda Co., Finland). The evaluation was performed at basal condition, and repeated at 1, 2, 3, 4 and 5 hours after administration. Results: MBFV and CV40 in the KRG group tended to rise at I hour after administration, while those of the FKRG group tended to rise at 2 hours after administration. CVR increased significantly after 1 hour in the KRG group (p=0.009) and after 2 hours in the FKRG group (p=0.035), respectively. The KG group showed increasing tendency at 4 hours after administration. No group showed significant difference from the placebo in changes of MBP and PR. Conclusions: It is suggested that KG, KRG and FKRG extracts have effects of enhancing CVR and thus of increasing cerebral blood flow in human subjects.

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The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease (가와사키병의 관상동맥 이상과 catechol-O-methyltransferase 유전자의 단일염기다형성)

  • Lee, Hyo Jin;Lee, Myung Sook;Kim, Ji Sook;Kim, Eun Ryoung;Kang, Sung Wook;Kim, Soo Kang;Chung, Joo Ho;Yoon, Kyung Lim;Han, Mi Young;Cha, Seong Ho
    • Clinical and Experimental Pediatrics
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    • v.52 no.1
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    • pp.87-92
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    • 2009
  • Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. Methods : One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. Results : There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P= 0.0077, dominant P=0.0021, recessive P=0.16). Conclusion : Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

Current status of sweetpotato genomics research (고구마 유전체 연구현황 및 전망)

  • Yoon, Ung-Han;Jeong, Jae Cheol;Kwak, Sang-Soo;Yang, Jung-Wook;Kim, Tae-Ho;Lee, Hyeong-Un;Nam, Sang-Sik;Hahn, Jang-Ho
    • Journal of Plant Biotechnology
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    • v.42 no.3
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    • pp.161-167
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    • 2015
  • Sweetpotato [Ipomoea batatas (L.) Lam] grows well in harsh environmental conditions, and is cultivated as one of the top seven food crops in the world. Recently, sweetpotato is drawing interest from people as a healthy food because it is high in dietary fiber, vitamins, carotenoids and overall nutrition value. However, few studies have been conducted on sweetpotato genome sequencing in spite of its importance. This review is aimed at increasing the efficiency of sweetpotato genome sequencing research as well as establishing a base for gene utilization in order to control useful traits. Recently, animal and plant genome sequencing projects increased significantly. However, sweetpotato genome sequencing has not been performed due to polyploidy and heterogeneity problems in its genome. Meanwhile research on its transcriptome has been conducted actively. Recently, a draft of the diploid sweetpotato genome was reported in 2015 by Japanese researchers. In addition, the Korea-China-Japan Trilateral Research Association of Sweetpotato (TRAS) has conducted research on gene map construction and genome sequencing of the hexaploid sweetpotato Xushu 18 since 2014. The Bill & Melinda Gates Foundation launched the 'sweetpotato genomic sequencing to develop genomic tools for Sub-Sahara Africa breeding program'. The chloroplast genome sequence acquired during sweetpotato genome sequencing is used in evolutionary analyses. In this review, the trend of research in the sweetpotato genome sequencing was analyzed. Research trend analysis like this will provide researchers working toward sweetpotato productivity and nutrient improvement with information on the status of sweetpotato genome research. This will contribute to solving world food, energy and environmental problems.

Human IL-27p28 Gene Polymorphisms are Associated with the Serum Total IgE Levels of Allergic Rhinitis Patients (사람의 IL-27p28 유전자 다형성은 알레르기성 비염 환자 혈청의 IgE 양과 연관됨)

  • Yu, Ji-In;Han, Weon-Cheol;Lee, Jae-Hoon;Kim, Hun-Soo;Yun, Ki-Jung;Lee, Jae-Hoon;Moon, Hyung-Bae;Chae, Soo-Cheon
    • Journal of Life Science
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    • v.19 no.3
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    • pp.299-304
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    • 2009
  • Interleukin 27 (IL-27) was discovered as a heterodimeric cytokine of the IL-12 family, and is composed of two subunits - Epstein-Barr virus induced gene 3 (EBI3) and p28. It acts as a versatile cytokine in the early regulation of Th1 initiation and in the negative regulation of the Th2 factor GATA binding protein 3 (GATA-3). This cytokine is mediated by the IL-27 receptor (WSX-1), which is highly expressed on $CD4^+$ T lymphocytes and NK cells. We previously identified four polymorphisms in the human IL-27p28 gene and suggested that the polymorphism of IL-27p28 is associated with susceptibility to asthma. To determine whether these IL-27p28 SNPs are associated with susceptibility to allergic rhinitis, the genotype and allele frequencies of IL-27p28 SNPs were analyzed between allergic rhinitis patients and healthy controls. Although the genotype and allele frequencies of IL-27p28 SNPs in allergic rhinitis patients were not significantly different from those of the control group, there was a suggestive difference (P=0.037) between these groups in total serum IgE levels in the g.2905T>G SNP of the IL-27p28 gene. Our result implies that the g.2905T>G SNP of the IL-27p28 gene might have an affect on IgE production in allergic rhinitis patients.

The Y153H Variant of the STOX1 Gene in Korean Patients with Preeclampsia

  • Kim, Shin-Young;Park, So-Yeon;Lim, Ji-Hyae;Yang, Jae-Hyug;Kim, Moon-Young;Park, Hyun-Young;Lee, Kwang-Soo;Kim, Young-Ju;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.56-61
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    • 2009
  • Purpose: Preeclampsia is a multifactorial disorder with genetic and environmental components. Recently, the STOX1 gene, identified as a candidate gene for preeclampsia in Dutch women, has been shown to be placentally expressed and subject to imprinting with preferential transmission of the maternal allele. The purpose of this study is to investigate whether there is an association between the STOX1 Y153H variation and preeclampsia in Korean pregnant women. Materials and Methods: This study involved 202 preeclamptic and 204 healthy pregnant women who were genotyped for the Y153H variant of the STOX1 gene using a commercially available SNapShot assay kit and an ABI Prism 3730 DNA Analyzer. Results: There were no significant differences in genotype frequencies of the Y153H variant of the STOX1 gene between preeclamptic patients and normal controls (P>0.05). The H allele frequency of the STOX1 Y153H variation was similar in patients with preeclampsia (87.1%) and in normal controls (86.5%). In addition, multiple logistic regression analysis showed that the YH, HH, and YH/HH genotypes were not associated with an increased risk of preeclampsia when compared to the YY genotype. Conclusion: This is the first study to characterize the Y153H variant of the STOX1 gene in Korean patients with preeclampsia. We found no differences in the genotype and allele frequencies between preeclamptic and normal pregnancies. Although limited by a relatively small sample size, our study suggests that the STOX1 Y153H variation is not associated with the development of preeclampsia in Korean pregnant women.

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