• Title/Summary/Keyword: 환자-대조군 유전 연구

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Psychological Characteristics of Alopecia Areata and Androgenetic Alopecia in Women (원형 탈모증과 안드로겐성 탈모증 여성의 정신적 특성에 관한 연구)

  • Park, Doo-Byoung;Jin, Seong-Nam;Min, Kyung-Jun;Noh, Byung-In
    • Korean Journal of Psychosomatic Medicine
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    • v.13 no.1
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    • pp.16-23
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    • 2005
  • Objectives : We have studied female patients with either alopecia areata or androgenetic alopecia to evaluate psychological aspects, such as anxiety, depression, alexithymia, and characteristic personalities. In addition, we tried to examine the differences in psychological characteristics between these two types of alopecia, where the alopecia areata has been cotroversial on the role of stress in its etiology and the androgenetic alopecia seems to be more influeced by genetic and biological factors. Methods : All participated patients were females with alopecia for more than 1 you. Among them, 52 were with alopecia areata and 33 were with androgenetic alopecia. They were compared with 54 normal healthy controls by using MMPI, BDI, STAI-S, STAI-T, and TAS-20K. Results The average scores of F, Hs, D, Pd, Pa, Sc, Si in MMPI of alopecia groups were significantly higher than that of normal controls, and the androgenetic alopecia group had highest Hy and Pt scores. The average scores of BDI, STAI-S, and STAI-T in alopecia groups were higher than the normal controls. 94.2% of alopecia areata patients and 97.0% of androgenetic alopecia patients had severe depression, who scored higher than 23 in BDI. In TAS-20K, the average total scores of alopecia groups were higher than the normal control group, and the average Factor 3 score in androgentic alopecia was higher than the other groups. The alopecia groups scored higher than normal control group in STAI-S and STAI-T. Conclusion : Females with chronic alopecia were more depressed, had higher levels of anxiety, and more alexithymic than normal healthy females. In spite of arguments about etiological role of stress to alopecia, psychiatric interventions are needed for depression, and considerations for personality and psychological defense mechanism were needed in both types of alopecia.

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Association Study between Genetic Polymorphisms of CYP2C19 Gene and Essential Hypertension in Koreans (한국인에서 CYP2C19 유전자 다형성과 본태성 고혈압 간의 연관성 연구)

  • Park, Ah-Ram;Shin, Eun-Soon;Son, Nak-Hoon;Jang, Yang-Soo;Shin, Dong-Jik
    • Journal of Life Science
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    • v.20 no.5
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    • pp.799-804
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    • 2010
  • In humans, CYP2C19, a member of the cytochrome P450 subfamily, metabolizes arachidonic acid to produce epoxyicosanoid acids, which are involved in vascular tone and regulation of blood pressure (BP). Recent findings suggest that CYP2C19 gene polymorphisms might be considered as a novel candidate gene for cardiovascular disease. We thus focused on the Korean population to explore the association of two polymorphisms ($CYP2C19^*2$ and $^*3$) in this gene and essential hypertension (EH). A total of 1,241 participants (537 hypertensive subjects and 704 healthy controls) were recruited from the Yonsei Cardiovascular Genome Center in Korea. The CYP2C19 polymorphisms were genotyped using the $SNaPShot^{TM}$ assay. The allele and genotype frequencies of $CYP2C19^*3$ showed significant difference between hypertensives and normotensives (P=0.019 and P=0.023, respectively). Logistic regression analysis indicated that the $CYP2C19^*3$ A allele carriers were significantly associated with EH (OR, 0.723; 95% CI, 0.538-0.972, P=0.032) under a dominant model. In addition, CYP2C19 G-A haplotype ($2C19^*2\;G-^*3$ A combination) was found to significantly reduce EH risk (OR, 0.714, P=0.015). We believe this provides evidence that $CYP2C19^*3$ polymorphism may contribute to a protective effect in the development of EH.

Correlation Between Primary Tuberculous Pleurisy and NRAMP1 Genetic Polymorphism (결핵성 흉막염 환자에서 NRAMP1 유전자 다형성에 대한 연구)

  • Kim, Je-Hyeong;Kim, Byung-Gyu;Jung, Ki-Hwan;Park, Sang-Myun;Lee, Sang-Youb;Lee, Sin-Hyung;Sin, Cheol;Cho, Jae-Youn;Shim, Jae-Jeong;In, Kwang-Ho;Yoo, Se-Hwa;Kang, Kyung-Ho
    • Tuberculosis and Respiratory Diseases
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    • v.48 no.2
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    • pp.155-165
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    • 2000
  • Background: The phagolysosomal function of alveolar macrophage against M. tuberculosis infection is influenced by Nramp1, which is encoded by the NRAMP1 gene. There are several genetic polymorphisms in NRAMP1, and these polymorphisms affect the innate host resistance through the defect in production and function of Nramp1. To investigate this relationship, the NRAMP1 genetic polymorphism in patients with primary tuberculous pleurisy was determined. Methods: Fifty-six primary tuberculous pleurisy patient, who were diagnosed by pleural biopsy, were designated to the pleurisy group and 45 healthy adults were designated to the healthy control group. Three genetic polymorphisms of NRAMP1, such as a single point mutation in intron 4(469+14G/C, INT4), a nonconservative single-base substitution at codon 543 that changes aspartic acid to asparagine(D543N) and a TGTG deletion in the 3' untranslated region(1729+55delI4, 3'UTR), were determined. Polymerase chain reaction(PCR) and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) were used. Results: The frequencies of mutant genotypes of INT4 and 3'UTR were significantly high in pleurisy group(p=0.001, p=0.023). But the frequencies of D543N were not significantly different between the two groups(p=0.079). The odds ratios, which are a comparison with wild genotype for determining mutant genotypes, were 8. 022(95% confidence interval=2.422-26.572) for INT4 and 5.733(95% confidence interval = 1.137~28.916) for 3'UTR ; these were statistically significant But the ratio for D543N was not significant In the combined analysis of the INT4 and 3'UTR polymorphisms, the odds ratios were 6.000(95% confidence interval = 1.461~24.640) for GC/++ genotype and 14.000(95% confidence interval=1.610~121.754) for GC/+del when compared with GG/++ homozygotes ; these were statistically significant. Conclusion: Among the NRAMP1 genetic polymorphisms, a single point mutation in intron 4(469+14G/C, INT4) and a TGTG deletion in the 3' untranslated region(1729+55del4, 3'UTR) were closely related to the primary tuberculous pleurisy.

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The relation between angiotensin converting enzyme (ACE) gene polymorphism and neonatal hyperbilirubinemia in Korea (한국인 신생아 황달과 안지오텐신 전환효소 유전자의 다형성)

  • Kim, Mi Yeoun;Lee, Jae Myoung;Kim, Ji Sook;Kim, Eun Ryoung;Lee, Hee Jae;Yoon, Seo Hyun;Chung, Joo Ho
    • Clinical and Experimental Pediatrics
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    • v.50 no.1
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    • pp.28-32
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    • 2007
  • Purpose : Human angiotensin converting enzyme (ACE) gene shows an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by whether a 287 bp fragment of the DNA is present or not; II, ID and DD genotype. DD genotype has been suggested as a risk factor of chronic nephrotic disease such as IgA nephropathy and diabetic nephropathy, various cardiovascular diseases and several other diseases. ACE activity increases in acute hepatitis, chronic persistent hepatitis, chronic active hepatitis and cirrhosis. On the other hand, patients with fatty livers have normal ACE activity. This study was designed to find out the relation between polymorphsims of the ACE genes and neonatal hyperbilirubinemia in Koreans. Methods : The genomic DNA was isolated from 110 full-term Korean neonates who had hyperbilirubinemia with no obvious causes (serum bilirubin$${\geq_-}12mg/dL$$) and 164 neonates of a control population (serum bilirubin <12 mg/dL). We performed polymerase chain reaction (PCR) to see the allele of the ACE gene. Electrophoresis was done in the PCR products in 1.5 percent agarose gel, and then DNA patterns were directly visualized under ethidium bromide staining. Results : ACE genotypes in the hyperbilirubinemia group are as follows; 26.36 percent for II, 53.64 percent for ID, 20.00 percent for DD, 0.532 for I allele and 0.468 for D allele. These distributions were not significantly different from those in the control group; 24.39 percent for II, 51.83 percent for DI, 23.78 percent for DD, 0.503 for I allele and 0.497 for D allele. Conclusion : In this study, ACE gene polymorphism was detected in the neonatal hyperbilirubinemia and control group. The most frequent genotype was ID. Our results indicate that the ACE gene polymorphism is not associated with the prevalence of neonatal hyperbilirubinemia in Koreans.

Catalase Gene Polymorphism in Korean Stroke Patients - 251 Case Control Study (한국인 중풍 환자의 Catalase 유전자 다형성 - 환자 대조군 연구 251 례)

  • Seo, Jung-chul;Kim, Yun-mi;Yin, Chang-sik;Han, Sang-won;Jung, Tae-young;Byun, Joon-seok;Leem, Kang-hyun;Kim, Ee-hwa;Koh, Hyung-kyun;Kim, Chang-hwan
    • Journal of Acupuncture Research
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    • v.19 no.4
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    • pp.183-189
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    • 2002
  • 목적 : 본 연구는 catalase 유전자 다형성이 중풍의 발병과 관련이 있는지 알아보기 위해 수행되었다. 대상 : 경산대학교부속구미 한방병원에 입원한 중풍환자 86 명과 종합건진센터에 내원한 중풍기왕력이 없는 건강인 165 명을 대상으로 하였다. 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 잘려진 DNA fragment의 양상을 관찰하였다. 결과 : T/T, T/A, A/A의 세가지 유전자형이 검출되었으며 중풍군과 건강인 사이에 통계적인 유의성이 나타나지 않았다. 결론 : 이상의 결과를 통하여 catalase 유전자 다형성은 중풍의 발병과는 관련성이 없는 것으로 사려되며 더 많은 환자를 대상으로 다른 환경요인 또는 유전자와의 연관성에 대한 심도있는 연구가 필요하다고 하겠다.

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A Case-Control Study on Effects of Genetic Polymorphisms of GSTM1, GSTT1, CYP1A1 and CYP2E1 on Risk of Lung Cancer (GSTM1과 GSTT1, 그리고 CYP1A1, CYP2E1 다형성이 폐암발생에 미치는 영향에 대한 환자-대조군연구)

  • Nan, Hong-Mei;Kang, Jong-Won;Bae, Jang-Whan;Choe, Kang-Hyeon;Lee, Ki-Hyeong;Kim, Seung-Taik;Won, Choong-Hee;Kim, Yong-Min;Kim, Heon
    • Journal of Preventive Medicine and Public Health
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    • v.32 no.2
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    • pp.123-129
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    • 1999
  • Objectives: This study was performed to investigate sweets of genetic polymorphisms of glutathione S-transferase M1 (GSTM1), glutathione S-transferase M1 (GSTT1), cytochrome P450 1A1 (CYP1A1) and cytoehrome P450 2E1 (CYP2E1) on lung cancer development. Methods: Ninety-eight lung cancer patients and 98 age-sex matched non-cancer patients hospitalized in Chungbuk National University Hospital form March 1997 to August 1998, were the subjects of this case-control study. Direct interview was done and genotypes of GSTM1, GSTT1, CYP1A1 and CYP2E1 were investigated using multiplex PCR or PCR-RFLP methods with DNA extracted from venous blood. Effects of the polymorphisms of GSTM1, GSTT1, CYP1A1 and CYP2E1, lifestyle factors including smoking, and their interactions on lung rancor were statistically analyzed. Results: GSTM1 was deleted in 67.01% of the cases and 58.16% of the controls, and the odds ratio(95% CI) was 1.46(0.82-2.62). GSTT1 deletion was 58.76% for the lung cancer patients and 50.00% for the controls[OR:1.43(0.81-2.51)]. The frequencies of lle/lle, lle/Val and Val/Val of the CYP1A1 polymorphisms were 59.18-18%, 35.71%, and 5.10% for the cases, and 52.04%, 45.92%, 2.04% for the controls, respectively. Risk of lung cancer was not associated with polymorphism of CYP1A1 ($x^2trend=0.253$, p-value>0.05). The respective frequency of c1/c1 c1/c2, c2/c2 genotypes for CYP2E1 were 50.00%, 42.86%, 7.14% for the lung cancer patients, and 66.33%, 30.61%, 3.06% for the controls $(x^2trend=5.783,\;p<0.05)$. c2 allele was a significant risk factor for lung cancer. We also observed a significant association of cigarette smoking history with lung cancer risk. The odds ratio(95% Cl) of cigarette smoking was 3.03(1.58-5.81). In multiple logistic analysis including genotypes of GSTM1, GSTT1, CYP1A1 and CYP2E1, and smoking habit, only snaking habit came out to be a significant risk factor for lung cancer. Conclusion: Genetic polymorphisms of GSTM1, GSTT1, CYP1A1 and CYP2E1 are not so strongly associated with lung cancer as lifestyle factors including cigarette smoking.

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Association between Endometriosis and Human ${\alpha}2$-Heremans Schmidt Glycoprotein (AHSG) Polymorphism (한국 여성에서 중증 자궁내막증과 Human ${\alpha}2$-Heremans Schmidt Glycoprotein (AHSG) 유전자 다형성의 연관성)

  • Kim, Jin-Ju;Chae, Soo-Jin;Kim, Jong-Mee;Lee, Gyoung-Hoon;Choi, Young-Min;Kim, Sung-Hoon;Shin, Jung-Ho;Lee, Taek-Hoo;Hur, Jun-Young;Lee, Byoung-Suk;Oh, Sung-Tack;Lee, Kyu-Sup;Lim, Young-Tack
    • Clinical and Experimental Reproductive Medicine
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    • v.35 no.4
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    • pp.267-274
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    • 2008
  • Objective: To evaluate the relationship between advanced stage endometriosis and polymorphisms in $\alpha$2-Heremans Schmidt glycoprotein (AHSG) gene in Korean women. Methods: One-hundred thirty women with endometriosis stage III and IV, and 224 women without endometriosis were enrolled. In these patients, we determined AHSG gene polymorphisms by PCR and RFLP (restriction fragment length polymorphism) analysis. Results: The genotype distribution of the AHSG gene polymorphism in the endometriosis group was not different from that of the control group (AHSG 1*1/AHSG 1*2/AHSG 2*2 frequencies were 56.2%/37.7%/6.2% and 55.8%/39.3%/4.9% for the endometriosis and control groups, respectively, p=.864). Also, the frequency of AHSG 2 haplotype was not different between endometriosis patients and controls (AHSG 1 haplotype /AHSG 2 haplotype rates were 75.0%/25.0% and 75.4%/24.6% for the endometriosis and control groups, respectively, p=0.894). Conclusion: AHSG gene polymorphism was not associated with the risk of advanced stage endometriosis in the Korean population.

Immunogenetic Study on the IgG Subclass Responses in the Phenotypic Subsets of the Early-Onset Periodontitis (조기발병형 치주염환자의 표현형에 따른 IgG subclass에 따른 면역 유전학적 연구)

  • Choi, Jeom-Il;Kim, Jun-Hong;Ha, Mi-Hye;Kim, Sung-Jo
    • Journal of Periodontal and Implant Science
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    • v.29 no.3
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    • pp.655-664
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    • 1999
  • 본 논문은 조기발병형 치주염에 이환된 환자의 immunoglobulin allotype markers(Gm)에 대한 연구를 한 것이다. 원래 이전의 논문에서 Porphyromonas gingivalis(Pg)에 대한 항체 역가를 측정하기위해 선택되었던 환자로 이는 subform I(distinctive localized juvenile periodontitis(LIP) pattern)으로부터 3명, subtype II(post-LJP pattern)으로부터 19명, subform III(localized but rapidly progressing pattern)으로부터 15명 그리고 subform Ⅳ(distinctive rapidly pregressing periodontitis(RPP)으로부터 24명을 추출하여 구성하였고, 각각 인종과 나이에 맞게 50명의 대조군을 구성했다. Gm type은 hemagglutination inhibition assay; b0b1b3b5, G3m(s), G3m(t)를 포함한 G1m(a), G1m(x), G1m(f), G2m(n), G3m(g), G3m(b)로 확인했었다. 관찰되어진 Gm haplotypes의 도수는 각각의 EOP subform에 따라 계산되었고 Gm phenotype은 각 환자에서 발견된 증가된 IgG subclass responses의 다양성에 따라 구분했다. 환자들 중에서 관찰된 9개의 Gm phenotype 은 4개의 Gm haplotype으로 나타났다. subform Ⅳ에서 관찰되어진 모든 4개의 Gm haplotype의 도수는 대조군과 유의성있는 차이가 났다. 특히 haplotype afnb(Gm(n))의 그것이 유의성있게 높았다. 더욱이 G2m(n)은 IgG4와 IgG1의 level뿐만 아니라 IgG2 level의 증가와 밀접한 관련이 있었다. Gm phenotype을 검사 할 때 IgG1+2와 IgG1+2+4모두에서 antibody level이 증가한 모든 환자가 일관되게 Gm phenotype agfnb나 axfnb를 가졌다. 결론적으로, IgG subclass response는 개인의 immunogenetic marker에 의해 조절되었고 genetic predisposition의 가능성은 EOP subform IV환자에서 관찰할 수 있었다. 더욱이 G2m(n)과 Gm phenotype agfnb나 axfnb 모두 IgG1+2 나 IgG1+2+4 antibody의 증가와 밀접한 관련이 있었다.

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The study of Intercostal Nerve Block and Patient-Controlled Analgesia for Post-Thoracotomy Pain (개흉술 후 동통억제에 대한 신경차단법 및 환자자가 치료법의 비교연구)

  • 김우종;이길노
    • Journal of Chest Surgery
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    • v.30 no.9
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    • pp.920-926
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    • 1997
  • Remarkable effect of pain relief and prevention of the postoperative Complications after thoracotomy has been achieved by continuous intravenous analgesia. This study was carried out with thirty patients who underwent posterolateral thoraco tony. The patients were divided into three groups: Group I(n= 10), the patients with intermittent intramuscular analgesia(piroxicam 20 mg), Group II(n=10), the patients with continuous epidural analgesia(0.5% bupivacaine 30m1 + normal saline 30 ml + morphine 10 mg), and Group III(n= 10) the patients with controlled intravenous infusion of analgesics(fentanyl 2500 mfg +normal saline 10 ml). The results w re as follows; 1) There were no significant changes of vital signs, between groups. 2) Tidal volume and FVC were significantly improved in the group II and III compared with the group I during the first postoperative day. 3) A significant reduction of immediate post-thoracotomy pain was achieved in the group II and III compared with the group I. 4) The limitation of motion in the operative side was less in the group II and III compared with the group I. 5) A signi(icant reduction of the postoperative analgegics consumption was noticed in group II and III. 6) Significant complications were not occured during follow-up period in all groups.

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Association between the Human Surfactant Protein-A(SP-A) Gene Locus and Chronic Obstructive Pulmonary Disease in Korean Population (한국인에서 만성폐쇄성폐질환과 인체 폐 표면 활성제 단백-A 유전자 대립형질의 상관관계)

  • Na, Joo Ock;Oh, Myung Ho;Choi, Jae Sung;Seo, Ki Hyun;Kim, Yong Hoon
    • Tuberculosis and Respiratory Diseases
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    • v.60 no.6
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    • pp.638-644
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    • 2006
  • Backgrounds: This study investigated whether or not a polymorphism in the gene encoding the surfactant protein A(SP-A) has any bearing on the individual susceptibility to the development of chronic obstructive pulmonary disease(COPD) in a genetically homogenous Korean population. Methods: The genotypes of 19 COPD patients and 20 healthy neonates as controls were tested using a polymerase chain reaction followed by restriction fragment length polymorphism analysis for the SP-A gene. Results: The specific frequencies of the 6A2 and 6A18 alleles of SP-A1 and the 1A2 allele of SP-A2 were much higher in the COPD group than control group (p<0.05). However, the frequencies of the 6A3 and 6A4 alleles of SP-A1 and the 1A0 allele of SP-A2 in the COPD group were significantly lower than the control group. In the COPD group, the frequencies of the +50 locus genotypes GG of SP-A1 and the +9 locus genotypes CC of SP-A2 were 85.0% and 60.6%, respectively, and 19.7% and 24.8% in the control group, respectively. The frequencies of the polymorphic genotypes or alleles showed a statistically significant difference between the COPD group and the control group (P<0.05). Conclusion: A genetic polymorphism in SP-A is associated with the development of COPD in the Korean population.