• The Journal of Internal Korean Medicine
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• v.28 no.2
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• pp.262-274
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• 2007

Objective : It has been reported that two-repeats ($IL1RN^{\ast}2$) of interleukin-1 receptor antagonist (IL-1Ra) gene is associated with ischemic stroke, and that Ala allele of the common Pro12Ala polymorphism in $PPAR-{\gamma}2$ isoform is associated with reduced risk for type 2 DM and its complications. The aim of the present study is to assess the association of IL-1Ra and $PPAR-{\gamma}2$ Pro12Ala polymorphism with the presence of ischemic stroke in the case of diabetic and non-diabetic patients. Methods : Genomic DNA was obtained from 373 healthy subjects, 157 DM subjects without ischemic stroke (known DM duration ${\ge}10$ years) and 302 ischemic stroke patients (including with DM). IL-1Ra polymorphism was analysed by polymerase chain reaction (PCR), and $PPAR-{\gamma}2$ polymorphism by restriction fragment length polymorphism after PCR. Results : $IL1RN^{\ast}1/IL1RN^{\ast}2$ genotype was associated with significantly increased risk for DM (OR=2.86, P = 0.0008) and ischemic stroke (OR=2.74, P = 0.0016). Pro/Ala genotype was associated with the reduced risk for DM (OR=0.53, P = 0.0491) and ischemic stroke (OR=0.38, P = 0.0039). They were also associated with the reduced risk for ischemic stroke in the DM patients compared with DM without ischemic stroke (OR=0.25, P = 0.0321). Conclusions : $IL1RN^{\ast}2$ allele could be an accelerating factor, not a predictive marker for ischemic stroke in type 2 DM. The Pro/Ala genotype of $PPAR-{\gamma}2$ Pro12Ala polymorphism may be associated with reduced risk for ischemic stroke with type 2 DM. Therefore it could be a useful predictive marker for ischemic stroke in Korean type 2 DM.

• The Journal of Korean Medicine
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• v.25 no.2
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• pp.207-219
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• 2004

Objectives : We investigated to find the relationship between single-nucleotide polymorphism (SNP) of IL4R, IL-10 and bee venom therapy efficacy in patients with RA treated with bee venom for 8 weeks. Methods : Korean RA patients (n=114) and healthy subjects (n=109) were included in this prospective study. Korean bee venom was dissolved in saline (diluted 1:3000) and administrated into acupuncture points. Bee venom therapy was applied twice a week and continued for 8 weeks. The clinical response was evaluated using various assessments before and after treatment. Disease severity was measured by determining the number of tender joints and swollen joints. Laboratory studies included ESR, CRP, and rheumatoid factor. Genotyping for IL-4R and IL-10 polymorphism was done by pyrosequencing analysis. Results : 1. In IL4R genotypes, there was significant difference between RA ptitients tind controls group. 2. In IL4R genotypes, there was significant difference among Good, Mild and Bad responders to in RA patients, but in the frequency of alleles and carriers, there were no significant difference. 3. There was no significant difference between RA patients and controls group in IL-10 gene genotypes. 4. In IL-10 genotypes, there was no significant difference among Good, Mild and Bad responders to in RA patients. 5. There was no significant difference in the improvement of ESR, CRP and KHAQ scores after bee venom therapy in RA patients among the IL4R or IL-10 genotypes. Conclusions : In IL-4R genotypes, there was significant difference between RA patients and control group, and among Good, Mild and Bad responders in RA patients. However, in IL-10 genotypes, there was no significant difference between RA patients and controls group and among Good, Mild and Bad responders in RA patients.

• Journal of Acupuncture Research
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• v.21 no.2
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• pp.21-29
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• 2004

목적 : 본 연구는 Interleukin 4 Receptor (IL-4R) 유전자 다형성이 중풍의 발병과 관련이 있는지 알아보기 위해 수행되었다. 대상: 대구한의대학교부속 한방병원에 입원한 중풍환자 56명과 종합건진센터에 내원한 중풍 기왕력이 없는 건강인 83명을 대상으로 하였다. 방법 : 각 그룹에서 개개인마다 DNA를 분리 정제한 후 Taq polymerase로 증폭하여 한천 겔에서 전기영동을 하여 PCR 산물을 확인하였다. PCR 산물은 Pyrosequencing 과정을 통하여 IL4R의 유전형이 자동으로 판정되었다. 결과 : A/A, A/G, G/G의 세가지 유전자형이 검출되었으며 중풍군과 대조군 사이에 유의성 있는 차이가 발견되었다(p=0.005). 그러나 개별 allele 빈도에 있어서는 중풍군과 건강인 사이에 통계적인 유의성이 나타나지 않았다(p=0.995). 결론 : 이상의 결과를 통하여 IL4R 유전자 다형성은 중풍의 발병과는 관련성이 있는 것으로 사려되지만 더 많은 환자를 대상으로 다른 환경요인 또는 유전자와의 연관성에 대한 심도있는 연구가 필요하다고 하겠다.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1987-1992
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• 2015

The aim of this research was to investigate the possible association between gastric carcinoma (GC) and polymorphisms of the IL-$1{\beta}$ gene in the Kashmiri population using peripheral blood DNA from 150 gastric carcinoma cases and 250 population controls with detailed data for clinicopathological characteristics of the disease. Two SNPs in the IL-$1{\beta}$ gene were selected for this study. Expression of IL-$1{\beta}$ was studied in 50 gastric carcinoma cases using immunohistochemistry and RT-PCR and then correlated with genotype. The frequency of the IL-$1{\beta}$-511 C allele was significantly higher in the GC case group (53.3%) than in controls (45.4%) with an odds ratio (OR) of 0.73 and a P value of 0.03. Multivariate regression analysis showed associations of gastric carcinoma with mutant form of IL-$1{\beta}$-511 TT (OR 0.309; P value <0.001) and the CC genotype of IL-$1{\beta}$-31 (OR 0.313; P value of 0.002). Haplotype analysis of IL-$1{\beta}$-31 and IL-$1{\beta}$-511 showed decreased association of IL-$1{\beta}$-31 T with IL-$1{\beta}$-511 C with gastric carcinoma (OR 0.728; P value 0.03). Expression study of 50 samples by immunohistochemistry (IHC) and RT-PCR showed association with grade III and stage III+IV. After correlating the expression with polymorphism no association was found.

• Tuberculosis and Respiratory Diseases
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• v.64 no.6
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• pp.466-470
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• 2008

A factor VII gene -401 G/A polymorphism was identified in a patient with a pulmonary embolism. The patient was a 71-year-old woman who presented with acute-onset dyspnea. A chest CT scan revealed a pulmonary embolism. Despite the administration of low-dose warfarin as anticoagulation therapy, there was an excessively prolonged prothrombin time (PT). The blood tests revealed lower factor VII activity than normal. Full factor VII gene sequencing revealed a G to A substitution at -401 in the promoter region. There were no other gene sequence anomalies. PCR-based analysis indicated lower factor VII gene expression in the patient than in a control subject. The data suggested the promoter polymorphism to be responsible for the lower transcription level. In conclusion, we encountered a case of Factor VII DNA polymorphism in a patient with a pulmonary embolism showing significantly reduced Factor VII activity.

• Korean Journal of Biological Psychiatry
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• v.16 no.3
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• pp.149-158
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• 2009

Objectives : This study was designed to investigate the association of schizophrenia and P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on dystrobrevin binding protein 1(DTNBP1) gene in Korean patients. Methods : We analyzed P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on DTNBP1 gene from their DNAs extracted from their blood in 388 Korean schizophrenic patients (male 198, female 190) and 372 control subjects(male 247, female 125). We compared the differences of genotype and allele distributions of the six polymorphisms on DTNBP1 gene between the Korean schizophrenic patient group and the normal control group. Results : There were no statistically significant differences of genotype and allele distributions of the P1320, P1325, P1635, P1655, P1763 and SNP A polymorphisms on DTNBP1 gene between the schizophrenic patient group and the normal control group. Conclusion : The results of this study suggest that P1320, P1325, P1635, P1655, P1763 and SNP A polymorphism on DTNBP1 gene do not have influence on the risk of the schizophnenic in the Korean population.

• Journal of Acupuncture Research
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• v.22 no.2
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• pp.1-12
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• 2005

Objective: With the onset of stroke, white blood cells release several proinflammatory cytokines, including interleukin (IL)-6, IL-10, and tumor necrosis factor $(TNF)-{\alpha}$. It has been proven in previous studies that the release of these cytokines is related to the extent of damage to the brain and to overall prognosis. However, no studies have yet been performed to determine the connection with IL-6 and IL-10. Thus, this study is performed to see whether polymorphisms of IL-6, IL-10, and $TNF-{\alpha}$ genes that show increased serum concentration with the onset of stroke are related to stroke attack in Koreans. Methods : Peripheral blood samples derived from patients with stroke (n=100) and healthy controls (n=100) were taken under informed consent. In subjects with stroke, blood samples were obtained within 24 hours of stroke onset. Genomic DNA was isolated using the Wizard DNA Purification Kit (Promega, Madison, WI). Results : 1. Subjects with Heterozygote (GA) and Homozygote (AA) $TNF-{\alpha}$ gene types showed 2.433 and 20.457 times higher risks of being attacked by stroke, respectively, compared to subjects with wild type (GG) $TNF-{\alpha}$ gene type. The data was still statistically significant after adjusting for age, sex, history of smoking, and history of alcohol drinking. 2. Subjects with Homozygote (CC) IL-6 gene type showed 182.033 times higher risk of being attacked by stroke, compared to subjects with wild type (GG) IL-6 genes. This data was statistically insignificant (p=0.700). The data was still statistically insignificant after adjusting for age, sex, history of smoking, and history of alcohol drinking. 3. Subjects with Heterozygote (GA) and Homozygote (GG) IL-10 gene types showed 8.785 and 3.303 times higher risks of being attacked by stroke, respectively, compared to subjects with wild type (AA) IL-10 genes. The data was still statistically insignificant after adjusting for age, sex, history of smoking, and history of alcohol drinking. Conclusion : Our results suggest that the investigated $TNF-{\alpha}$ and IL-10 gene polymorphisms play an important role in stroke attack, but IL-6 gene polymorphism has not been found to associated with stroke.

• Korean Journal of Veterinary Research
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• v.45 no.1
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• pp.25-28
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• 2005

The melanocortin 1 receptor (MC1R) plays an important role in regulation of melanin pigment synthesis within mammalian melanocytes. Mutations within the gene encoding MC1R have been shown to explain coat color variations within several mammalian species including cattle. To develope a rapid and accurate method for the identification of Hanwoo meat, we performed a single nucleotide polymorphism (SNP) analysis in Melanocortin 1 receptor (MC1R) gene using TaqMan$^{(R)}$ MGB probe-based real-time PCR. Two specific probes (one for Hanwoo and the other for Holstein and Black angus) were designed. At the 5' end of 2 TaqMan$^{(R)}$ MGB probes, 6-carboxyfluorescein (FAM) was labeled for Hanwoo, and VIC for Holstein and Black angus. As a result, Hanwoo samples showed FAM-positive signal only, whereas other samples showed VIC-positive. This result suggests that the TaqMan$^{(R)}$ MGB probe based real-time PCR technique would be very accurate, easy and reproducible method to discriminate between Hanwoo meat and Holstein/Black angus meat.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.17
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• pp.7213-7218
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• 2014

Background: Egypt has one of the highest prevalences of hepatitis C virus (HCV) infection worldwide. Although the IL28B gene polymorphism has been shown to modify the course of chronic HCV infection, this has not been properly assessed in the Egyptian population. Materials and Methods: The IL28B rs12979860 single nucleotide polymorphism (SNP) was therefore examined in 256 HCV-infected Egyptian patients (group II) at different stages of disease progression and in 48 healthy volunteers (group I). Group II was subdivided into GII-A (chronic hepatitis patients, n=119), GII-B (post hepatitis cirrhosis, n=66) and GII-C (HCC on top of cirrhosis, n=71). Results: The C/T genotype was the commonest in all groups. It was more frequent in GI (52%) than in GII (48%). There was no significant difference in the frequency of C/T and C/C or T/T genotypes between groups and subgroups (p=0.82). Within the subgroups; the C/C genotype was more common in GII-B while C/T and T/T genotypes were more common in GII-C, though with no significant difference (p=0.59 and p=0.80). There was no significant association between IL28B rs12979860 SNP and viral load, ALT, AFP level, METAVIR scores for necro-inflammation and fibrosis, and Child-Pugh classification. Conclusions: 1) IL28Brs12979860 C/T genotype is the commonest genotype in HCV-associated CH and HCC in Egypt. 2) IL28Brs12979860 polymorphisms are not associated with disease progression or aggression (histological staging, severity of fibrosis in CH or the incidence of post-HCV HCC). 3) Differences in IL28Brs12979860 genotypes could be a consequence of environmental or ethnic variation.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.18
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• pp.7763-7768
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• 2014

Background: Gastritis and gastric cancer are the most common diseases in the Kazakh population. Polymorphisms in genes coding of cytokines have been played important role with gastric disease risk. The risk alleles of cytokines in patients with gastritis can predict the risk of developing gastric cancer. The aim of this study was to investigate cytokine gene polymorphisms as risk factors for the development of gastritis in a case-control study with gastritis patients and healthy individuals from the Kazakh ethnic group, living in North Kazakhstan. Materials and Methods: The polymerase chain reaction followed by direct sequencing were used for detection of two functional polymorphisms in the IL1 gene family, and TaqMan SNP Genotyping Assay Sets were applied for three potentially functional polymorphisms in the IL10 gene, and one in the TNFA promoter. Results: Association analysis of studied allelic variants and the development of gastritis in H. pylori-positive patients showed that IL1B -31C/C, IL1B -511T/T and IL1RN -2/2 allelic variants were associated with development of gastritis (OR=1.8 (1.07-3.16), p=0.025; OR=1.7 (1.04-2.99), p=0.035, and OR=4.92 (2.45-9.85), p<0.001) respectively. Haplotype C-Т that combines both homozygous allelic variants of IL1B gene also had a statistically significant association with slightly higher OR (OR: 1.43, 95% CI: 1.08-1.88). Conclusions: The data from the current study showed that the genotype IL-1B -511Т/-31C-IL1-RN-2 and H. pylori infection increase risk of gastritis in the Kazakh population. That genotype combination might be a factor increasing the risk of developing gastric cancer.