• Title/Summary/Keyword: IL-1B%2B3954

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The IL-1 Gene polymorphisms in Korean Children (한국인 아동에서의 IL-1 유전자 다변성 연구)

  • Yoon, Seong-Sik;Chung, Hyun-Ju;Kim, Ok-Su;Yang, Ku-Ho
    • Journal of Periodontal and Implant Science
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    • v.35 no.2
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    • pp.299-310
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    • 2005
  • The severe form of chronic periodontitis(CP) has been reported to be strongly associated with the presence of allele 2 of composite IL-1B(+3954) and IL-1A(+4845) genetic polymorphisms(genotype positive). However, other studies have reported conflicting findings. These might have resulted from differences in ethnic background and disease entities. The aim of this study was to determine the distribution of IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN(VNTR) genetic polymorphisms in children as a future Korean population. The study population consisted of 92 children from the Dept. of Pediatric Dentistry, Chonnam National University Hospital. Genomic DNA was obtained from buccal swab. The IL-1A(+4845), IL-1B(+3954), and IL-1B(-511) genes were genotyped by amplifying the polymorphic region using multiplex polymerase chain reaction(PCR), followed by restriction enzyme digestion and gel electrophoresis. IL-1 RN(VNTR) polymorphism were then evaluated by PCR amplification and fragment size analysis in agarose gel. The allele 2 frequency was 41.3%, 4.3%, 47.8%, and 9.9% for IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN respectively. The frequency of genotype with allele 2 carriage for IL-1A(+4845), IL-1B(+3954), IL-1B(-511), and IL-1 RN was 77.1%, 7.6%, 63.0%, and 15.2% respectively. The allele 2 frequency in IL-1B(+3954) was significantly higher in female than in male population(p<0.05). The negative association was shown between the presence of allele 2 in IL-1B(-511) and in IL-1B(+3954), and the carriage rate of IL-1B(+3954) allele 2 tended to lower in IL-1B(-511) allele 2(P=0.056). Only 7.3% of children carried the composite genotype of IL-1A(+4845) and IL-1B(+3954). These results suggest that the polymorphism of IL-1B(+3954) and the positive composite genotype was relatively rare in Korean population.

IL-1B (C+3954T) Gene Polymorphism and Susceptibility to Gastric Cancer in the Iranian Population

  • Ismaili, Ahmad;Yari, Kheirollah;Moradi, Mohammad-Taher;Sohrabi, Maryam;Kahrizi, Danial;Kazemi, Elham;Souri, Zahra
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.2
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    • pp.841-844
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    • 2015
  • Background: Gastric cancer as one of the most important diseases affecting health in all worldwide. Current studies have confirmed associations of cytokine gene polymorphisms with the risk of gastric cancer development. The current research aimed to assess the association of IL-1B+3954 genotypes with the risk of gastric cancer in the Iranian population. Materials and Methods: This case-control study covered 49 gastric cancer patients compared to 53 cancer free individuals as a control group. Genomic-DNA extraction was carried out from bioptic samples of patients and peripheral blood of healthy volunteers. Polymorphism of IL-1B +3954 genotypes were analysed with a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: The frequencies of IL-1B +3954 A1A1, A1A2 and A2A2 genotypes in healthy individuals were 26.4, 66 and 7.6 %, respectively. However, in gastric cancer patients, A1A1, A1A2 and A2A2 with 4.1, 51 and 44.9% were observed (p<0.05). Conclusions: The findings of our results show a positive association between the IL-1B+3954 genotype distribution and the risk of gastric cancer disease in the Iranian population.

Investigation of IL-1B (-511, +3954) and IL-1RN Gene Polymorphisms in Korean Psoriasis Patients (한국인 건선 환자에서의 IL-1B (-511, +3954)와 IL-1RN 유전자의 다양성 조사)

  • Kim, Yang-Kyum;Pyo, Chul-Woo;Kim, Tae-Yoon;Kim, Tai-Gyu
    • IMMUNE NETWORK
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    • v.3 no.3
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    • pp.242-247
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    • 2003
  • Background: Psoriasis is an inflammatory skin disorder that is characterized by a marked proliferation of keratinocytes, vascular dilation and leukocyte infiltration. Cytokines play important roles in the pathogenesis of inflammatory disorders. An overexpression of proinflammatory cytokines was characterized in psoriasis plaque. Among these cytokines, IL-$1{\beta}$ is major pro-inflammatory cytokine synthesized during the infection and inflammatory process. The IL-1 receptor antagonist (IL-1Ra) competes for the same IL-1 receptor for $IL-1{\alpha}$ and $-1{\beta}$, which prevents activation of the target cells. Three single nucleotide polymorphisms (SNPs) in the IL-$1{\beta}$ gene have been reported at position -31, -511 and +3954. Within the IL-1Ra gene (IL-1RN), there is a variable number of tandem repeats (VNTR) of an 86 bp length in intron 2. These polymorphisms related to cytokine production and associated with various diseases. Methods: We investigated the polymorphisms of IL-1B (promoter -511 and +3954) and IL-1RN on 114 psoriasis patients and 311 healthy normal controls in Korean. We performed PCR-RFLP on single nucleotide polymorphisms (SNPs) of IL-1B (promoter -511 and +3954) and fragment analysis on IL-1RN 86 bp VNTR polymorphism. Results: The frequency of IL-1B $-511^*1$ allele (patients vs. controls; 50.0% vs. 42.3%, RR=1.4) was significantly increased and IL-1B $-511^*2$ allele (patients vs. controls; 50.0% vs. 57.7%, RR=0.7) decreased in psoriasis patients compared to normal controls. We also analyzed the IL-1B -511 polymorphism according to patients' characters (age of onset, sex and family history). The IL-1B -511 alleles were significantly associated in patients with male and family history than health normal controls. There were no significant associations of IL-1B +3954 and IL-1RN polymorphisms with psoriasis patients. Conclusion: These results suggest that the polymorphism of IL-1B -511 could be genetic susceptibility to psoriasis in Koreans.

IL-1 gene polymorphisms in Korean periodontitis patients (한국인 치주염 환자에서의 IL-1 유전자 다변성 연구)

  • Nam, Seung-Ji;Chung, Hyun-Ju;Kim, Ok-Su;Kim, Young-Joon;Koh, Jung-Tae
    • Journal of Periodontal and Implant Science
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    • v.34 no.3
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    • pp.623-637
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    • 2004
  • 중증 만성 치주염과 1L-1B+3954 및 1L-1A+4845 유전자의 대립유전자 2 보유 유전자 다변성이 관련된다고 보고되었다. 그러나 이러한 1L-1 복합유전자 다변성과 만성 치주염 및 급진성 치주염과의 관련성에 대해서는 상반되게 보고되고 있는데 이는 인종적 배경과 질환특성의 차이에 기인한 것으로 보인다. 이 연구는 한국인에서 경도, 중등도와 중증의 만성 치주염 그리고 급진성 치주염 환자를 대상으로 하여 1L-1A+4845, 1L-1B+3954, 1L1B-511, 1L-1 RN intron 2 (VNTR) 유전자 다변성의 분포를 평가하고, 치주질환의 심도와 유형에 관련되는지 알아보고자 시행되었다. 전남대학교 병원 치주과에서 검진과 치료를 받은 100명의 치주질환자를 대상으로 하였고 질환군은 치주낭 깊이, 부착 소실, 골 소실을 기준으로 하여 경도, 중등도, 중증의 만성 치주염, 급진성 치주염군으로 분류하였다. 대조군으로는 전남대학교 병원 소아치과에 내원한 전신적으로 건강한 92명의 아동을 포함하였다. 각 대상 환자에서 채취된 협점막상피에서 genomic DNA를 얻어 1L-1A+4845, 1L-1B+3954, 1L-1B-511 genotype은 중합효소 연쇄반응을 시행한 후 제한 효소분해과정을 거쳐 전기영동 후 분리한 결과를 해석하였으며 1L-1 RN(VNTR) 유전형은 중합효소연쇄반응 후 분리한 결과를 해석하여 다음의 결과를 얻었다. 대립유전자 2 보유자 비율은 치주질환자에서 1L-1A+4845, 1L-1B+3954, 1L-1B-511, 1L-1 RN이 각각 61%, 13%, 76.6%, 34%였으며 대조군에서는 76.9%, 7.7%, 62.2%, 19.1%였다. 1L-1B+3954과 1L-1A+4845 대립유전자 2 보유자인 양성유전자형 비율은 경도, 중등도, 중증의 만성치주염, 급진성 치주염환자에서 각각 10%, 7.9%, 22.2%, 12% 였으며 치주질환자의 13%, 대조군의 7.7%에서 양성 복합유전자형(positive genotype)을 보였다. IL-1B-511 유전자 다변성은 치주질환자에서 대조군에 비하여 높았으며 급진성 치주염환자에서 대립유전자 2 보유자율이 유의하게 높았다(p<0.01). IL-1 RN intron 2 유전자 다변성은 중등도 및 중증 만성 치주염환자에서 대립유전자 2 보유자율이 유의하게 증가하였다. 이러한 결과는 IL-1 gene cluster의 유전형이 한국인에서도 치주염의 유형과 질환 심도에 관련될 수 있음을 시사하였다.

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.