• Genomics & Informatics
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• 제14권4호
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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.

• The Korean journal of internal medicine
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• 제33권6호
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• pp.1103-1110
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• 2018

Background/Aims: Several epidemiological studies have validated the association of interleukin gene polymorphisms with acute pancreatitis (AP) in different populations. However, there have been few studies in Asian ethnic groups. We aimed to investigate the relationships between inflammatory cytokine polymorphisms and AP as pilot research in a Korean ethnic group. Methods: Patients who had been diagnosed with AP were prospectively enrolled. DNA was extracted from whole blood, and DNA sequencing was subsequently performed. Single-nucleotide polymorphisms (SNPs) of the interleukin $1{\beta}$ (IL1B), interleukin 1 receptor antagonist (IL1RN), and tumor necrosis factor ${\alpha}$ (TNFA) genes of patients with AP were compared to those of normal controls. Results: Between January 2011 and January 2013, a total of 65 subjects were enrolled (40 patients with AP vs. 25 healthy controls). One intronic SNP (IL1RN -1129T>C, rs4251961) was significantly associated with the risk of AP (odds ratio, 0.304; 95% confidence interval, 0.095 to 0.967; p = 0.043). However, in our study, AP was not found to be associated with polymorphisms in the promoter regions of inflammatory cytokine genes, including IL1B (-118C>T, c47+242C>T, +3954C/T, and -598T>C) and TNFA (-1211T>C, -1043C>A, -1037C>T, -488G>A, and -418G>A). Conclusions: IL1RN -1129T>C (rs4251961) genotypes might be associated with a significant increase of AP risk in a Korean ethnic group.

• 생물정신의학
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• 제7권2호
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• pp.147-151
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• 2000

Objective : Major depression is known to have immunologic dysfunctions, the recent studies revealed that cytokines including IL-6 and IL-$1{\beta}$ were increased in patients with major depression. Since molecular genetic methods have been progressed, this study was to investigate the relationship between major depression and immunologic aspects by analyzing polymorphism of IL-10 gene. Method : 92 patients with major depression were included and data of 146 normal controls obtained from the Catholic Hemopoietic Stem Cell Information Bank of Korea were used in this study. DNA was extracted from whole blood, thereafter amplified by polymerase chain reaction, and digested by Mae III After that procedure, we obtained and assessed RFLP of two alleles, IL-10T and IL-10C. All data were analyzed by ${\chi}^2$ test. Results : 1) There were no significant difference in genotype frequencies of $IL-10^*T/T$, $IL-10^*T/C$, and $IL-10^*C/C$ between major depression patients group and control group. 2) There were no significant difference in allelic frequencies of $IL-10^*T$ and $IL-10^*C$ between major depression patients group and control group. Conclusion : We did not verified the differences in frequencies of $IL-10^*T/^*IL-10^*C$ gene between the major depression patients group and control group, respectively. But the results of this study do not declare that the IL-10 gene has no association with major depression. We do suggest that further systematic studies including various clinical variables should be conducted.

• 대한화학회지
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• 제50권2호
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• pp.123-128
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• 2006

혈관염이 특징적인 질환으로 구강궤양, 음부궤양, 안구염증과 관절, 피부, 중추신경계, 위장관 등 여러 장기를 침범할 수 있는 만성 염증성 질환이다. 베체트병의 발병원인이나 기전에 대해 확실히 밝혀지지는 않았으나 유전적인 소인이 있는 사람에서 감염 등 환경적인 요인이 면역 반응에 이상을 일으켜 질병의 여러 증상이 발현된다. 주조직복합체 (major histocompatibility complex, MHC)와 non-MHC gene등 다양한 유전자들이 베체트병의 병인으로 관여한다. 이 연구에서는 IL-6의 유전적 다형성이 한국인 베체트병의 감수성에 관여하는지를 확인하였다. 유전자 다형성은 VNTR (variable number of tandem repeat), RFLP (restriction fragment length polymorphism), DHPLC (denaturing high performance liquid chromatography) 방법을 이용하여 확인하였다. 실험 결과, 베체트 환자와 대조군에서 IL-6prom의 유전적 다형성은 관련성이 없었지만 IL-6vntr에서는 유전형과 대립형질의 빈도가 다르게 나타났다. IL-6vntr*C 대립유전자가 한국인 베체트병과 연관성이 높게 나타났다. 이런 결과를 확인하기 위해 앞으로 여러 집단과 다른 유전자의 연구가 필요하다.

• The Korean Journal of Physiology and Pharmacology
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• 제12권4호
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• pp.205-209
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• 2008

Recently, Sun et al (2008) reported that the IL6R polymorphism is associated with schizophrenia. Therefore, to detect the association between polymorphisms of interleukin 31 receptor A (IL31RA) and schizophrenia, we genotyped 9 SNPs [rs9292101 (intron 1), rs1009639 (exon 2, Pr043Pro), rs2161582 (intron 2), rs68761890 (intron 5), rs16884629 (intron 6), rs11956465 (intron 12), rs12153724 (intron 12), and rs16884641 (intron 14)] using the Golden Gate assay on Illumina BeadStation 500 GX. Two hundred eighteen patients with schizophrenia and 379 normal subjects were recruited. Patients with schizophrenia were diagnosed according to DSM-IV, and control subjects without history of psychiatric disorders were selected. We used SNPStats, Haploview, HapAnalyzer, SNPAnalyzer, and Helixtree programs for the evaluation of genetic data. Of nine polymorphisms, three SNPs (rs9292101, rs1009639, and rs11956465) were associated with schizophrenia. The rs9292101 and rs11956465 showed significant associations with the risk of schizophrenia in the codominant [rs9292101, odds ratio (OR)=0.74, 95% confidence interval (CI)=0.58${\sim}$0.95, p=0.017] and recessive (rs11956465, OR=0.64, 95% CI=0.42${\sim}$0.96, p=0.034) models, respectively. The rs1009639 also was statistically related to schizophrenia in both codominant (OR=0.76, 95% CI=0.60${\sim}$0.97, p=0.025) and dominant (OR=0.66, 95% CI=0.44${\sim}$0.98, p=0.035) models. Two linkage disequilibrium (LD) blocks were made. In the analysis of haplotypes, a haplotype (GCT) in block 1 and a haplotype (CCACAG) in block 2 showed significant associations between schizophrenia and control groups (haplotype GCT, frequency=0.509, chi square=4.199, p=0.040; haplotype CCACAG, frequency=0.289, chi square=5.691, p=0.017). The results suggest that IL31RA may be associated with risk of schizophrenia in Korean population.

• Journal of Acupuncture Research
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• 제22권2호
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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.

• Asian Pacific Journal of Cancer Prevention
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• 제14권6호
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• pp.3443-3447
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• 2013

Aim: Esophageal cancer is the eighth most common cancer and sixth leading cause of cancer associated death worldwide. The 5 year survival rate for esophageal cancer patients is very poor and accounts for only 12.3%. Besides environmental risk factors, genetic factors might play an important role in the esophageal cancer carcinogenesis. Methods: We conducted a hospital based case-control study to evaluate the genetic effects of functional single nucleotide polymorphisms (SNPs): interleukin 9 (IL9) rs31563 C>T, IL9 rs31564 G>T, IL10 rs1800872 T>G, IL12A rs2243115 T>G, IL12B rs3212227 T>G and IL13 rs1800925 C>T on the development of esophageal cancer. A total of 380 esophageal squamous cell carcinoma (ESCC) cases and 380 controls were recruited for this study. The genotypes were determined using a custom-by-design 48-Plex SNPscan$^{TM}$ Kit. Results: The IL10 rs1800872 T>G polymorphism was associated with an increased risk of ESCC. However, there were no significant links with the other five SNPs. Stratified analyses indicated no significant risk of ESCC associated with the IL10 rs1800872 T>G polymorphism evident among any subgroups. Conclusion: These findings indicated that functional polymorphism IL10 rs1800872 T>G might contribute to ESCC susceptibility. However, our results were obtained with a limited sample size, so that the power of our analysis was low. Future larger studies with more rigorous study designs of other ethnic populations are required to confirm the current findings.

• 대한치과교정학회지
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• 제48권6호
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• pp.395-404
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• 2018

Objective: To date, only a few studies have investigated the relationships between genetic polymorphisms and external apical root resorption (EARR). Hence, the aim of this systematic review was to explore the relationship between different gene polymorphisms and their association with EARR. Methods: A complete literature search was conducted by two independent reviewers. The PubMed, Science Direct, and Scopus databases were searched. In addition, the bibliographies of all textbooks and relevant articles were searched manually. A meta-analysis was performed using data entered into the electronic databases until February 28, 2017. Results: On the basis of the search, we identified 17 and 7 publications for the systematic review and meta-analysis, respectively. Odds ratio (OR) was used to evaluate the association of the interleukin 1B (+3954) polymorphism and the risk of EARR. The overall OR from the studies was used to estimate the risk of EARR. However, no association was found and no publication bias was apparent for the risk of EARR in patients receiving orthodontic treatment. Conclusions: More research on the relationship between gene polymorphism and EARR is necessary to determine better specificity of possible interactions.

• Clinical and Experimental Pediatrics
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• 제51권9호
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• pp.1007-1011
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• 2008

목 적 : 열성 경련은 소아에서 가장 흔한 경련의 원인으로 우리나라의 경우 6-9%의 발생율을 보인다. 열성 경련의 원인으로 유전적인 소인이 중요한 것으로 생각되고 있지만 아직까지 열성경련과 관련된 정확한 유전자는 밝혀지지 않았다. $IL-1{\beta}$은 내인성 발열인자로서 열성 경련의 발병에 중요한 역할을 할 것으로 생각된다. 방 법 : 40명의 열성경련 환아(가족형 20명, 산발형 20명)와 33명의 대조군을 대상으로 하여 말초혈액에서 DNA를 추출했으며 PCR을 통해 분석하였다. $IL-1{\beta}$ gene의 -31, -511 promoter region에서 C/T biallelic polymorphism의 빈도를 대조군과 단순 열성경련 군(가족형과 산발형)으로 나누어 각각 비교해 보았다. 결 과 : 두 군간 다형성의 빈도는 통계학적으로 유의한 차이를 보이지 않았다. 결 론 : 통계학적 의의는 없으나 가족력이 있는 열성경련 군에서 CT/CT의 빈도가 상대적으로 높게(70.0%) 측정되어 많은 수의 환아를 대상으로 한 연구가 필요할 것으로 보인다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권11호
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• pp.4697-4703
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• 2014

Background: Interleukin-16 (IL-16) is a multifunctional cytokine which plays a key role in inflammatory and autoimmune diseases as well as in cancer. Genetic polymorphisms of IL-16 have been implicated in susceptibility to cancer. However, associations remain inconclusive. The present meta-analysis was therefore carried out to establish a more conclusive association of IL-16 polymorphisms with cancer risk. Materials and Methods: Relevant studies were searched through the PubMed, Embase, Web of Science, Google Scholar and Wan fang electronic databases updated in October 2013. Odds ratios (OR) and 95% confidence intervals (95% CI) were used to assess the association between IL-16 polymorphisms and cancer risk. Results: Eight eligible studies (rs4778889 T/C: 8, rs11556218 T/G: 7, rs4072111 C/T: 6) that met our selection criteria were included. The meta-analysis indicated that rs11556218 T/G was associated with a significant increased risk of cancer (G vs. T, OR=1.321, 95% CI=1.142-1.528, P<0.001; TG vs. TT, OR=1.665, 95% CI=1.448-1.915, P<0.001; GG+TG vs. TT, OR=1.622, 95% CI=1.416-1.858, P<0.001),as well as nasopharyngeal carcinoma and colorectal cancer. Furthermore, in the subgroup of Chinese, significant associations were found between rs11556218 polymorphism and cancer risk. There was no statistically significant association between the other two variants (rs4778889, rs4072111) and risk of cancer. Conclusions: This meta-analysis suggests that the IL-16 rs11556218 polymorphism is associated with increased cancer risk. Large well-designed studies involving various cancer types and different populations are now needed.