• Title/Summary/Keyword: Genetic Factors

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Gene-gene interaction in cerebral infarction patients: Relationship between apolipopreotein E gene polymorphism and Sasang-constitution

  • Um, Jae-Young;Kim, Jong-Kwan;Joo, Jong-Cheon;Kim, Kyung-Yo;Hong, Seung-Heon;Kim, Hyung-Min
    • Advances in Traditional Medicine
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    • v.4 no.2
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    • pp.104-111
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    • 2004
  • Sasang Constitutional Medicine is a major branch of Korean Traditional Oriental Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, we examined interrelationship among cerebral infarction (CI), apolipoprotein E (apoE) gene polymorphism, and Sasang constitutional classification. ApoE is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. We investigated the association between apoE genotype and CI by case-control study in a Korean population. We also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 196 CI patients and 379 controls without CI were examined. ApoE genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A significant difference in the apoE genotype distribution was observed in the CI patients compared with that in controls ($X^{2}$=14.920, df=4, P=0.005). Also, the frequency of Taeumin constitution in patients with CI was significantly higher than that in controls (58.0% vs. 36.9%; P<0.001). However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apoE ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles. No differences in the apoE genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, we investigated whether the DD genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apoE polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apoE ${\varepsilon}3/{\varepsilon}4$ and ACE ID/DD genotypes than in the remaining Sasang constitutions (14.5% vs. 8.3% and 0%) ($X^{2}$=13.521, df=6, P=0.035). In summary, we concluded that the apoE polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apoE ${\varepsilon}3/{\varepsilon}4$ genotype and Taeumin constitution.

Degenerative myopathy of the supracoracoideus (DMS) in turkeys and broiler chickens, Review (칠면조와 육계에서 청색증 발생기전에 관한 고찰)

  • Song, Hee-Jong;Lee, Myung-Woo;Ryu, Kyeong-Sun;Jang, Hyung-Kwan
    • Korean Journal of Veterinary Service
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    • v.31 no.1
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    • pp.161-166
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    • 2008
  • Deep pectoral myopathy (DPM), also known as Oregon muscle disease or green muscle disease, was first described in 1968 by Dickinson et al as "degenerative myopathy" in turkeys. Even though this condition was first recognized in adult meat-type turkey and chicken breeders, it is becoming more and more common in meat-type growing birds. DPM occurs exclusively in birds that have been specially selected for breast muscle development. It is generally recognized that DPM is an ischemic necrosis that develops in the deep pectoral muscle (supracoracoideus or pectoralis minor muscle) mainly because this muscle is surrounded by inelastic fascia and the sternum, which do not allow the muscle mass to swell in response to the physiological changes occurring when muscle are exercised, as in wing flapping. The lesion does not impair the general health of birds and is generally found during cut-up and deboning, moreover, it can be both unilateral or bilateral, affecting just one or both pectoralis minor muscle, respectively. No public health significance is associated to DPM, but it is aesthetically undesirable. The fillet should be removed, whereas the rest of the carcass is still fit for human consumption. However, the required trimming operations determine the downgrading of the products and produce an economic loss for the industry, especially because it affects the more valuable part of the carcass. The incidence of DPM increases with market weight in broilers, with more cases reported in higher-yielding strains and in males. Increased bird activity (flock nervousness, flightiness, struggle, and wing flapping) induced by factors such as feed or water outages, lighting programs and intensity, human activity, and excessive noises in and around chicken houses should be looked at as a trigger for the development of DPM in broiler. However, most of the studies conducted to evaluate the incidence of DPM in poultry are concerned with parental commercial breeding stocks under experimental conditions (Bianchi et al. 2006. Poult Sci 85 : 1843-1846). There is a possible genetic relationship between the selection for large-breasted birds and this condition. Management procedures that discourage excessive wing flapping would reduce the incidence (Jordan and Pattison. 1998. Poultry diseases. 398-399).

Association between Periodontitis and Coronary heart disease in Korea : Inflammatory markers and IL-1 gene polymorphism (한국인에서 치주질환과 관상동맥질환의 관련성에 대한 염증표지자와 IL-1 유전자 다변성의 영향)

  • Jeong, Ha-Na;Chung, Hyun-Ju;Kim, Ok-Su;Kim, Young-Joon;Kim, Ju-Han;Koh, Jung-Tae
    • Journal of Periodontal and Implant Science
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    • v.34 no.3
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    • pp.607-622
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    • 2004
  • Recently epidemiologic studies have indicated that the patients with periodontitis may have increased risk of ischemic cardiovascular events, and have suggested the important roles of blood cytokines and acute reactant proteins in the systemic infection and inflammatory response. Periodontitis and coronary heart disease (CHD) may share the common risk factors and the genetic mechanism associated with interleukin(IL)-1A, B and RA genotype may be involved in the production of IL-1. This study was aimed to investigate the relationship between angiographically defined CHD and periodontitis as chronic Gram-negative bacterial infection and to determine whether the IL-1 gene polymorphism is associated in both diseases. Patients under the age of 60 who had undergone diagnostic coronary angiography were enrolled in this study. Subjects were classified as positive CHD (+CHD, n=37) with coronary artery stenosis more than 50% in at least one of major epicardial arteries, and negative CHD (-CHD, n=30) without significant stenosis. After recording the number of missing teeth, periodontal disease severity was measured by means of plaque index (PI), gingival index (GI), bleeding on probing (BOP), probing depth (PD), clinical attachment level (CAL), and radiographic bone loss around all remaining teeth. Gingival crevicular fluid (GCF) was collected from the 4 deepest periodontal pockets and assessed for cytokine ($IL-1{\beta}$, IL-6, IL-1ra, tumor necrosis $factor-{\alpha}$, and prostaglandin $E_2$). Additionally, blood CHD markers, lipid profile, and blood cytokines were analyzed. IL-1 gene cluster genotyping was performed by polymerase chain reaction and enzyme restriction using genomic DNA from buccal swab, and allele 2 frequencies of IL-1A(+4845), IL-1B(+3954), IL-B(-511), and IL-1RA(intron 2) were compared between groups. Even though there was no significant difference in the periodontal parameters between 2 groups, GCF level of $PGE_2$ was significantly higher in the +CHD group(p<0.05). Correlation analysis showed the positive relationship among PD, CAL and coronary artery stenosis(%) and blood $PGE_2$. There was also significant positive relationship between the periodontal parameters (PI, PD, CAL) and the blood CHD markers (leukocyte count, C-reactive protein, and lactic dehyrogenase). IL-1 gene genotyping showed that IL-1A(+3954) allele 2 frequency was significantly higher in the +CHD group compared with the -CHD group (15% vs. 3.3%, OR 5.118,p=0.043). These results suggested that periodontal inflammation is related to systemic blood cytokine and CHD markers, and contributes to cardiovascular disease via systemic inflammatory reaction. IL-1 gene polymorphism might have an influence on periodontal and coronary heart diseases in Korean patients.

Comparison of Immunohistochemical Expression of CBP(cAMP-responsive Element Binding Protein) Transcriptional Co-activator between Premalignant Lesions and Squamous Cell Carcinomas in the Lungs (전암성 폐병변 및 편평상피세포폐암 조직에서 CBP(cAMP-responsive Ele-ment Binding Protein) 전사 공동 활성인자의 면역조직화학적 발현양상의 비교)

  • Shin, Jong Wook;Kim, Jin Soo;Kim, Mi Kyung
    • Tuberculosis and Respiratory Diseases
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    • v.63 no.2
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    • pp.165-172
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    • 2007
  • Background: The pathogenesis of lung cancer includes the accumulation of multiple genetic abnormalities. The CREB-binding protein(CBP) is one of several transcriptional co-activators among various sequence-specific DNA-binding transcription factors. CBP is involved in a wide range of cellular activities, such as DNA repair, cell growth, differentiation, and apoptosis that are suspected of contributing to tumorigenesis. The goal of this study was to evaluate CBP expression in a series of human lung tissues containing normal epithelium, premalignant lesions(hyperplasia and dysplasia) and squamous cell carcinomas. Materials and Methods: Immunohistochemical staining was performed on formalin-fixed paraffin-embedded sections by use of a monoclonal anti-CBP antibody. CBP expression was compared in samples from 120 patients with premalignant and malignant histological types including 20 metaplastic specimens, 40 dysplastic specimens, and 60 squamous cell carcinomas in the lung. Results: CBP expression was seen in 35% (7/20) of the metaplastic specimens. 65% (26/40) of the dysplastic specimens, and 70% (42/60) of the squamous cell carcinomas (p<0.05). According to celluar atypism, CBP expression was 50% (10/20) of the low-grade dysplastic specimens and 80% (16/20) of the high-grade dysplastic specimens(p <0.01). By cellular differentiation, CBP expression was seen in 95% (19/20) of the well differentiated squamous cell carcinomas, 85% (17/20) of the moderately differentiated carcinomas and 30% (6/20) of the poorly differentiated lesions (p <0.05). Conclusion: These results suggest that CBP may have an important role in malignant transformation of precancerous lung lesions and may be a marker for malignancy.

UNERUPTED PRIMARY MOLAR (미맹출 유구치에 관한 증례)

  • Han, Yeon-Sun;Choi, Byung-Jai;Kim, Seong-Oh;Lee, Chong-Gap
    • Journal of the korean academy of Pediatric Dentistry
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    • v.29 no.3
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    • pp.444-449
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    • 2002
  • The term 'impaction' is used to designate a tooth which remains unerupted in the jaw beyond the time at which it should normally be erupted. The main causal factors are local (lack of space, ectopic positions of teeth, supernumerary teeth, cyst, the occurrence of infectious process in the eruption path, traumatic facial injury etc.). Systemic and genetic disorders, however, may have primary failure of eruption and retarded eruption as additional symptoms (cleidocranial dysplasia, osteopetrosis etc.). Most cases of impacted teeth reported in the literature are of permanent teeth. The absence of primary teeth occur rarely whereas impaction of second primary molars is more numerous than all other impactions. Impaction due to primary failure of eruption must be distinguished from the secondary infraocclusion. The etiology of impaction of primary teeth is probably related to early ankylosis of primary teeth, but it is not clear. Failure of eruption of primary teeth may cause a number of complications, such as interference with development and eruption of succedaneous teeth, formation of cyst, and damage to adjacent teeth. This study is to report cases of primary failure of eruption in the primary dentition.

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A 17- Year Clinicostatistical Analysis of Cleft Lip and/or Palate Patients in Clinics for Maxillo-Oral Disorders, Tohoku University Dental Hospital (동북대학 치학부속병원 악구강기능치료부에 있어서 구순구개열 환자의 임상통계 -1987년부터 2002년까지-)

  • Moon Cheol-Hyun;Kochi Shako
    • Korean Journal of Cleft Lip And Palate
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    • v.7 no.1
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    • pp.35-46
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    • 2004
  • The frequency of abnormality at birth is average 1-1.5%, and of these, cleft lip & palate is known to be the most frequent congenital abnormality, Cleft is considered to be due to multi-factorial heredity correlated with genetic and environmental factors, Cleft patients require the collaborative treatment with several medical departments, Clinics for Maxillo-Oral Disorders of Tohoku University Dental Hospital performs the total managements related to such as occlusion and language for the patients with congenital maxilla-facial abnormality, This study examined the patients with cleft lip and/or palate who came to the Clinics for Maxilla-Oral Disorders of Tohoku University Dental Hospital for the past 17 years from Jan. 1987 to Dec, 2002, and had the results as follows, 1. Annual mean number of patients The annual mean number of the patients for 17 years from Jan, 1987 to Dec, 2002 was 91 patients, ranging from 63 minimum to 116 maximum, 2, Gender and types of cleft There were 747(51%) males and 709(49%) females, with a male to female ratio 1,05:1. CLP was the most frequent cleft type as shown in 616 patients, and other patients manifested different complaints such as CL, CP, SMCP and MC in order. 3. The laterality in cleft type The lip cleft was frequently expressed orderly on left, right and both sides of CL patients while orderly being shown on left, both and right sides of CLP patients. Accordingly, lip cleft was most commonly found on the left side. 4. Address at first visit Of 1,456 subjects, 850(58.4%) patients were residing in Miyagi Prefecture, where this hospital is located. 5. Age at first visit 615(42.2%) patients came to the hospital at their age younger than 1 year old, comprising 282(19.4%) patients age younger than 2 months old and 333(22.9%) patients age between 2 month old and 1 year old. 6. Mother's age at birth For the mother's age at birth, 526(39.9%) patients were at the age of 25 to 30 years old, and 17(1.3%) patients were over 40 years old. 7. Birth weight 34.3%(443 patients) had a birth weight of 2500-3000gm and 56.0%(724 patients) had a 3000-4000gm. It was also found that 7.9%(102 patients) had a birth weight of less than 2500gm. 8. Familial expression The frequency of familial expression was 6.5%(94 patients).

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Analysis of Interleukin-6 Gene Polymorphisms in Behcet’s Disease Using RFLP and DHPLC (RFLP와 DHPLC를 이용한 베체트병 환자에서 Interleukin-6 유전자 다형성의 분석)

  • Jang, Won-Cheol;Park, Sang-Beom;Nam, Yun-Hyeong;Lee, Jae-Sik
    • Journal of the Korean Chemical Society
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    • v.50 no.2
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    • pp.123-128
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    • 2006
  • Behcet's disease (BD) is a systemic vasculitis characterized by recurrent oral and genital ulcers, and ocular inflammation, and which may involve the joints, skin, central nervous system and gastrointestinal tract. Although the exact pathogenesis for BD is not completely understood, it has been suggested that the disease is triggered in genetically susceptible individuals by environmental factors, such as microbial agents. It is noted that multiple genes, including MHC (major histocompatibility complex) and non-MHC genes, are implicated in the pathogenesis of BD. This study tries to determine whether IL-6 gene polymorphisms are associated with susceptibility to Behcet's disease in Koreans. Gene polymorphisms were typed by VNTR (variable number of tandem repeat), RFLP (restriction fragment length polymorphism), DHPLC (denaturing high performance liquid chromatography).There were no evidences for genetic association conferred by the IL-6prom polymorphism. However, significant differences in the IL-6vntr genotype and allele frequencies were found between patients with BD and controls. The IL-6vntr*C allele appeared to be an additional susceptibility gene to Korean BD. Further studies in other populations and gene are required to confirm these results.

Effect of High CO2 Concentration on Activation of Sexual Development in Aspergillus nidulans (고농도 CO2 노출에 의한 Aspergillus nidulans의 유성생식 촉진효과)

  • Han, Kap-Hoon;Yang, Yeong-Seok;Kim, Jong-Hwa
    • The Korean Journal of Mycology
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    • v.41 no.3
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    • pp.192-196
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    • 2013
  • Fungal development is largely affected by many environmental factors. In a model filamentous fungus Aspergillus nidulans, asexual development is promoted by exposure of light, presence of salt and non-fermentable sugars. In other hand, sexual development is largely induced by absence of light, fermentable sugars and hypoxic condition. Also, some important genes including veA and nsdD play positive roles in activating sexual development. Here, we reported that the effect of high concentration of $CO_2$ on developmental decision in A. nidulans. When wild-type $veA^+$ strain was cultured in normal condition, sexual and asexual development occurred in balanced manner. However, high concentration of $CO_2$ (~5%) strongly activated sexual development and inhibited asexual development. Furthermore, this $CO_2$ effect was controlled by the veA or nsdD gene. High $CO_2$ culture of $veA^-$ or $nsdD^-$ mutant didn't activate sexual development, suggesting that the activation of sexual development induced by high $CO_2$ cannot overcome the genetic requirement of sexual development such as veA or nsdD. Since 5% $CO_2$ is an important condition for human pathogenic fungi for surviving and adapting in human body, this developmental pattern of A. nidulans affected by $CO_2$ concentration may provide interesting clues for comparative study with human fungal pathogens including Aspergillus fumigatus.

Comparative analysis of Y chromosomal microdeletions in Korean infertile men of 47,XXY and 46,XY karyotypes (47,XXY와 46,XY 핵형을 가진 한국인 불임남성의 Y 염색체의 미세결실에 대한 비교 분석)

  • Huh, Jae-Won;Kim, Woo-Young;Kim, Dae-Soo;Ha, Hong-Seok;Lee, Ja-Rang;Choi, Ook-Hwan;Nam, Ki-Man;Bae, Hwa-Jung;Choi, Jin;Kim, Heui-Soo
    • Journal of Life Science
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    • v.17 no.6 s.86
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    • pp.741-747
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    • 2007
  • In the azoospermic patients, there are many of undiagnosed factors related to genetic bases. Among them, Klinefelter's syndrome (47,XXY; KS) and Y-chromosomal microdeletion with normal karyotype(46,XY; YMNK) are the most frequent causes of male infertility. This research focused on the comparative analysis of YMNK (n = 66) and K5 (n = 30) patients suffered from male infertility in Korean population. We used the polymerase chain reaction (PCR) approach including 19 pairs of sequence-tagged site (STS) primers for detecting the Y-chromosomal microdeletion on AZFa, b, c regions, indicating that Y chromosomal microdeletions were almost evenly occurred in AZF all regions in Korean population. Comparative analysis indicated that 34.9% YMNK and 73.4% KS patients harbored the microdeleted Y-chromosome. It seems to be high instability of Y-chromosome in KS patients than that of YMNK infertility patients. Taken together, genome instability containing microdeletion could bring male infertility with the disturbance of normal spermatogenesis.

Mineralogical Properties and Paragenesis of H-smectite (H-스멕타이트의 광물학적 특성과 생성관계)

  • Noh, Jin-Hwan;Hong, Jin-Sung
    • Journal of the Mineralogical Society of Korea
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    • v.23 no.4
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    • pp.377-393
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    • 2010
  • Pumiceous tuffs occurring in the Beomgockri Group are examined applied-mineralogical characteristics and their controling factors to evaluate their potentials as the adsorption-functional mineral resources. The pumiceous tuffs are diagenetically altered to low-grade zeolitcs and bentonites in the Janggi area. Compositional specialty due to the presence of pumice fragments induces the altered tuffs to exhibit the characteristic adsorption property combined with cation exchange capacity, specific surface area, and acidic pH. Unusual lower pH in the adsorption-functional mineral substances is turned out to be originated from the presence of H-smectite having $H^+$ in the interlayer site of the sheet structure. On account of disordered crystallinity resulting from the exchanged $H^+$ in the interlayer site, the smectite commonly forms crenulated edges in the planar crystal form and exhibits characteristic X-ray diffraction patterns showing comparatively lower intensities of basal spacings including (001) peak than conventional Ca-smectite. Based on the interpretation of paragenetic relations and precursor of the H-smectite, a genetic model of the peculiar clay mineral was proposed. The smectite formation may be facilitated resulting from the precipitation of opal-CT at decreasing pH condition caused by the release of H+ during diagenetic alteration of pumice fragments. Because of the acidic smectite, the low-grade mineral resources from the Beomgockri Group may be applicable to the adsorption industry as the raw materials of acid clays and bed-soil.