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Cytokine Gene Polymorphisms (cytokine + gene_polymorphism)
Selected AbstractsCytokine gene polymorphisms in periodontal disease: a meta-analysis of 53 studies including 4178 cases and 4590 controlsJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 9 2008Georgios K. Nikolopoulos Abstract Aim: We conducted a systematic review and a meta-analysis, in order to investigate the potential association of cytokine gene polymorphisms with either aggressive or chronic periodontal disease. Material and Methods: A comprehensive literature search was performed. We retrieved a total of 53 studies summarizing information about 4178 cases and 4590 controls. Six polymorphisms were included in our meta-analysis which are the following: IL-1A G[4845]T, IL-1A C[,889]T, IL-1B C[3953/4]T, IL-1B T[,511]C, IL-6 G[,174]C and TNFA G[,308]A. Random effect methods were used for the analysis. We calculated the specific odds ratios along with their 95% confidence intervals to compare the distribution of alleles and genotypes between cases and controls. Results and Conclusions: Using random effect methods we found statistically significant association of IL-1A C[,889]T and IL-1B C[3953/4]T polymorphisms with chronic periodontal disease without any evidence of publication bias or significant statistical heterogeneity. A weak positive association was also found concerning IL-1B T[,511]C and chronic periodontal disease. No association was found for all the cytokines examined as far as the aggressive form of the disease is concerned. Future studies may contribute to the investigation of the potential multigenetic predisposition of the disease and reinforce our findings. [source] Cytokine gene polymorphisms and the inflammatory response to abdominal aortic aneurysm repair,BRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 9 2003M. J. Bown Background: Cytokines are key mediators of the inflammatory response to surgery and polymorphic sites in their genes have been shown to affect cytokine production in vitro. The aim of this study was to determine whether cytokine gene polymorphisms affect cytokine production in vivo in patients undergoing abdominal aortic aneurysm (AAA) repair. Methods: One hundred patients admitted for elective AAA repair had plasma levels of interleukin (IL) 1,, IL-6, IL-10 and tumour necrosis factor (TNF) , measured at induction of anaesthesia and 24 h after operation. Genotypes for each patient were determined using induced heteroduplex genotyping for the following loci: IL-1, + 3953, IL-6 , 174, IL-10 , 1082/,592 and TNF-, , 308. Results: Patients with an IL-10 , 1082 A allele had a significantly higher IL-10 response to surgery than those without an A allele (P = 0·030) and there was also a significant difference in IL-10 response between patients with IL-10 , 1082 AA genotypes and those with GG genotypes (P = 0·030). Conclusion: Elective AAA repair results in a measurable cytokine response. In this study the magnitude of this response was not affected by the individual patient's cytokine gene polymorphisms. Copyright © 2003 British Journal of Surgery Society Ltd. Published by John Wiley & Sons, Ltd. [source] Cytokine gene polymorphisms and sudden infant death syndromeACTA PAEDIATRICA, Issue 3 2010L Ferrante Abstract Aim:, Several studies indicate that the mucosal immune system is stimulated in cases of sudden infant death syndrome (SIDS), and our hypothesis is that this immune reaction is because of an unfavourable combination of functional polymorphisms in the cytokine genes. Methods:, Thus, in this study, single nucleotide polymorphisms (SNPs) in the genes encoding IL-6, IL-8, IL-12, IL-13, IL-16, IL-18 and IFN, were investigated in 148 SIDS cases, 56 borderline SIDS cases, 41 cases of infectious death and 131 controls. Results:, Regarding genotype distribution, no differences between the investigated groups were found. However, in the SIDS group, the genotypes IL-8 ,251AA/AT and IL-8 ,781CT/TT were significantly more frequent in the SIDS cases found dead in a prone sleeping position, compared with SIDS cases found dead in other sleeping positions. In addition, there was an association between fever prior to death and the genotype IL-13 +4464GG in the cases of infectious death. Conclusion:, This study indicates that specific interleukin genotypes are a part of a genetic make up that make infants sleeping prone at risk for SIDS. [source] Autoantibodies in alcoholic liver diseaseADDICTION BIOLOGY, Issue 2 2000Ian G. McFarlane Despite many decades of research, the reasons why only a relatively small proportion of individuals who consume excessive quantities of alcohol develop clinically significant liver disease remain unknown. The association with features of autoimmune diseases, including hypergammaglobulinaemia, circulating autoantibodies, inheritance of certain immunogenetic (HLA) markers and response to corticosteroid therapy in some patients has led to a persistent impression that altered immune regulation with a relative loss of self-tolerance underlies susceptibility to the development of the more severe forms of alcoholic liver disease (alcoholic hepatitis and/or cirrhosis). However, review of the data from the numerous studies that have been conducted over the past 30 years fails to reveal sufficiently convincing evidence that autoimmunity plays a primary role in alcohol-related liver damage. In particular, most of the wide range of circulating autoantibodies that have been reported in patients are found mainly at low titres, are not confined to those with severe liver injury, and are probably more likely to be a response to the hepatic insult than causally related to liver damage. Additionally, an association with various HLA phenotypes has not been confirmed by meta-analysis. Interpretation is complicated by evidence that alcohol may have direct effects on some components of the immune system but, if there is an immunogenetic basis for alcoholic liver disease, the present evidence suggests that this might be related more to cytokine gene polymorphisms than to a predisposition to autoimmunity per se. [source] Pathogenesis of Helicobacter pylori InfectionHELICOBACTER, Issue 2006Masanori Hatakeyama Abstract Much interest has been shown in the relationship between Helicobacter pylori infection and gastric carcinogenesis. It is becoming clearer that H. pylori strains carrying a functional cag pathogenicity island (cagPAI), which encodes the type IV secretion system (TFSS) and its effector CagA, play an important role in the development of gastric carcinoma. Furthermore, genetic polymorphism present in the cagA gene appears to influence the degree of an individual cagPAI-positive H. pylori to elicit gastric mucosal lesions, and this process is significantly affected by host genetic polymorphisms such as proinflammatory cytokine gene polymorphisms. Pathomechanism of gastric carcinogenesis associated with H. pylori includes bacteria,host interaction leading to morphologic alterations such as atrophic gastritis and gastrointestinal metaplasia mediated by COX-2 overexpression, cancer cell invasion, and neo-angiogenesis via TLR2/TLR9 system and transcription factors (e.g., NF-,B) activation. In addition, H. pylori infection triggers adhesion molecule expression and activity and produces an enhancement in oxidative stress interacting with gastric production of appetite hormone ghrelin and nonsteroidal anti-inflammatory drugs. [source] Single nucleotide polymorphisms of cytokine genes in the healthy Slovak populationINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 4 2007J. Javor Summary Cytokines are molecules that control and modulate the activities of numerous target cells via binding to specific receptors. The observed differences in the cytokine production among individuals can be, at least partially, explained by gene polymorphisms. Several cytokine gene polymorphisms have been identified to play a role in susceptibility to various diseases, including autoimmune, infectious, allergic or cardiovascular diseases. The aim of the current study was to determine allele and genotype frequencies of 22 polymorphisms in 13 cytokine genes in the healthy Slovak population and to compare them with data available from six populations from Central and Southern Europe. A polymerase chain reaction with sequence-specific primers was used to genotype polymorphisms within genes encoding IL-1,, IL-1,, IL-1R, IL-1RA, IL-4R,, IL-12, IFN-,, TGF-,, TNF-,, IL-2, IL-4, IL-6 and IL-10 in a sample of 140 unrelated Slovak subjects. The allelic distribution of all polymorphisms in the Slovak population was very close to that in the geographically and historically closest populations in Central Europe , the Czech and the Polish. However, several differences were found between the Slovak and four populations from Southern Europe. The obtained data represent a basis for further studies on association of cytokine gene polymorphisms with some diseases. [source] Cytokine profiling of pulmonary aspergillosisINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 4 2006H. Sambatakou Summary Aspergillus fumigatus is ubiquitous and yet causes invasive, chronic and allergic disease of the lung. Chronic cavitary pulmonary aspergillosis (CCPA) is a slowly destructive form of pulmonary aspergillosis, without immunocompromise. We hypothesized that CCPA cytokine gene polymorphisms would differ from patients with allergic bronchopulmonary aspergillosis (ABPA) and uninfected controls. We have profiled functional cytokine gene polymorphisms for interleukin (IL)-10, IL-15, transforming growth factors (TGF)-,1, tumour necrosis factor (TNF)-, and interferon (IFN)-, in patients with CCPA (n = 24) who were compared with other forms of aspergillosis (mostly ABPA) (n = 15) and with ethnically matched controls (n = 65,330). Results are described with reference to the high-producing genotype in each case. Susceptibility to aspergillosis (all patients compared with normal controls) was associated with higher frequency of the IL-15 +13689*A allele (OR = 2.37, P = 0.0028) and A/A genotype (,2 = 10.31, P < 0.001), with a lower frequency of the TNF-,,308*A/A genotype (,2 = 11.05, P < 0.01). Within the aspergillosis patients, CCPA is associated with lower frequency of the IL-10 ,1082*G allele (OR = 0.38, P = 0.0006) and G/G genotype (,2 = 22.45, P < 0.001) and with a lower frequency of the TGF-,1 +869 *T allele (OR +0.42, P < 0.0029) and T/T genotype (,2 = 17.82, P < 0.001) compared with non-CCPA patients and normal controls. Patients infected with Aspergillus appear to be higher producers of IL-15, a Th2-promoting cytokine, and lower producers of TNF-,, a cytokine central in protective responses. CCPA occurs in patients who are genetically lower producers of both IL-10 and TGF-,1. As these cytokines are regulatory and anti-inflammatory, CCPA may be a consequence of poor inflammatory response control in the lung. [source] Lack of association between pro-inflammatory cytokine (IL-6, IL-8 and TNF-,) gene polymorphisms and Graves' diseaseINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 6 2005R.-H. Chen Summary Graves' disease (GD) is a common, autoimmune disease involving the thyroid gland, and it has been previously suggested that pro-inflammatory cytokines are involved in the disease's pathogenesis. The aim of this study was to test whether the interleukin (IL)-6 gene promoter region, or tumour necrosis factor (TNF)-, or IL-8 gene 3,-untranslated region (3,-UTR) polymorphisms could provide useful genetic markers for an individual's susceptibility to GD. A normal control group of 60 healthy people and 95 patients featuring GD were examined. Polymerase chain reaction (PCR)-based restriction analysis was performed for the three gene polymorphisms using endonucleases BsrBI, NcoI and ApaLI, respectively. We found no significant difference between the frequencies of genotype and allelic variants for the IL-6 gene promoter (,572 G/C), the TNF-, gene promoter (,308 A/G) and the IL-8 gene 3,-UTR (2767 A/G) for GD patients and for normal controls. Cytokines are a large group of proteins that may elicit multiple effects upon immunological reactions. It still appears to be very worthwhile to continue to aggressively search for cytokine gene polymorphisms in order to predict the development of such disease. [source] Cytokine gene polymorphisms in periodontal disease: a meta-analysis of 53 studies including 4178 cases and 4590 controlsJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 9 2008Georgios K. Nikolopoulos Abstract Aim: We conducted a systematic review and a meta-analysis, in order to investigate the potential association of cytokine gene polymorphisms with either aggressive or chronic periodontal disease. Material and Methods: A comprehensive literature search was performed. We retrieved a total of 53 studies summarizing information about 4178 cases and 4590 controls. Six polymorphisms were included in our meta-analysis which are the following: IL-1A G[4845]T, IL-1A C[,889]T, IL-1B C[3953/4]T, IL-1B T[,511]C, IL-6 G[,174]C and TNFA G[,308]A. Random effect methods were used for the analysis. We calculated the specific odds ratios along with their 95% confidence intervals to compare the distribution of alleles and genotypes between cases and controls. Results and Conclusions: Using random effect methods we found statistically significant association of IL-1A C[,889]T and IL-1B C[3953/4]T polymorphisms with chronic periodontal disease without any evidence of publication bias or significant statistical heterogeneity. A weak positive association was also found concerning IL-1B T[,511]C and chronic periodontal disease. No association was found for all the cytokines examined as far as the aggressive form of the disease is concerned. Future studies may contribute to the investigation of the potential multigenetic predisposition of the disease and reinforce our findings. [source] No correlation of five gene polymorphisms with periodontal conditions in a Greek populationJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 11 2006D. Sakellari Abstract Background: Various studies have examined possible correlations between a number of cytokine gene polymorphisms and periodontal disease in populations of different origins. The present study sought the correlation between four single-nucleotide polymorphisms (IL1A+3954, IL1B+4845, TNFA,308, COL1A1 Sp1), a variable number of tandem repeats polymorphism (IL1RN intron 2) and periodontal conditions in subjects of Greek origin. Methods: One hundred and ninety-two healthy subjects, stratified as non-periodontitis and periodontitis (chronic and aggressive) cases, participated in the present study. Genotyping was performed by polymerase chain reaction-based techniques using the primers and conditions described in the literature. The frequencies of genotypes between study groups were compared using Genepop v3.3 genetic software and Instat statistical package. Results: No differences were observed among the groups concerning the distributions of genotypes under investigation. Conclusions: Carriage rates of the polymorphisms under investigation in systemically healthy subjects of Greek origin are well within the range reported for Caucasians but these polymorphisms cannot discriminate between non-periodontitis and periodontitis (chronic or aggressive) cases. [source] Role of cytokine gene polymorphisms in acute rejection and renal impairment after liver transplantationLIVER TRANSPLANTATION, Issue 3 2001Julie R. Jonsson Although immunosuppressive regimens are effective, rejection occurs in up to 50% of patients after orthotopic liver transplantation (OLT), and there is concern about side effects from long-term therapy. Knowledge of clinical and immunogenetic variables may allow tailoring of immunosuppressive therapy to patients according to their potential risks. We studied the association between transforming growth factor-,, interleukin-10, and tumor necrosis factor , (TNF-,) gene polymorphisms and graft rejection and renal impairment in 121 white liver transplant recipients. Clinical variables were collected retrospectively, and creatinine clearance was estimated using the formula of Cockcroft and Gault. Biallelic polymorphisms were detected using polymerase chain reaction-based methods. Thirty-seven of 121 patients (30.6%) developed at least 1 episode of rejection. Multivariate analysis showed that Child-Pugh score (P = .001), immune-mediated liver disease (P = .018), normal pre-OLT creatinine clearance (P = .037), and fewer HLA class 1 mismatches (P = .038) were independently associated with rejection. Renal impairment occurred in 80% of patients and was moderate or severe in 39%. Clinical variables independently associated with renal impairment were female sex (P = .001), pre-OLT renal dysfunction (P = .0001), and a diagnosis of viral hepatitis (P = .0008). There was a significant difference in the frequency of TNF-,-308 alleles among the primary liver diseases. After adjustment for potential confounders and a Bonferroni correction, the association between the TNF-,-308 polymorphism and graft rejection approached significance (P = .06). Recipient cytokine genotypes do not have a major independent role in graft rejection or renal impairment after OLT. Additional studies of immunogenetic factors require analysis of large numbers of patients with appropriate phenotypic information to avoid population stratification, which may lead to inappropriate conclusions. [source] Association of cytokine gene polymorphisms in CWP and its severity in Turkish coal workersAMERICAN JOURNAL OF INDUSTRIAL MEDICINE, Issue 10 2008Ilker Ates PhD Abstract Background Cytokines appear to play a key role in some inflammatory reactions affecting the interactions among pro- and anti-inflammatory mechanisms that result in several diseases such as coal workers' pneumoconiosis (CWP). In this study, to determine the cytokine gene profiles of Turkish coal miners, we performed genotyping analysis to investigate the polymorphisms of CWP-related pro-inflammatory (TNFA, IL1A, IL1B, and IL6) and anti-inflammatory cytokines (IL-1RN and TGFB1). An additional goal was to observe whether these cytokine gene polymorphisms influence the development risk and severity of. Methods Genotyping was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results TNFA (,238) gene polymorphism principally affected CWP development and severity (OR,=,3.47: 95% CI, 1.12,10.77 and OR,=,4.30: 95% CI, 1.25,14.74, respectively) and also risk of CWP (OR,=,3.79: 95% CI, 1.37,10.46). The TNFA (,308) variant was associated with a risk for the CWP severity (OR,=,2.84: 95% CI, 1.08,7.39). A protective effect of IL6 was found on the development (OR,=,0.48: 95% CI, 0.21,0.93) and severity of CWP (OR,=,0.37: 95% CI, 0.15,0.91). Conclusions We suggest that TNFA (,238) variant may be a risk factor in both development and the severity of CWP, while TNFA (,308) variant seems to be important only in disease severity. On the other hand, IL6 variant may have a protective effect on the development and disease severity. Am. J. Ind. Med. 51:741,747, 2008. Published 2008 Wiley-Liss, Inc. [source] Genetic susceptibility to viral exposure may increase the risk of cerebral palsyAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2009Michael DJUKIC Aim: Cytokine polymorphisms may alter the fetal inflammatory response, increasing susceptibility to cerebral palsy (CP). This study investigates associations between selected inflammatory mediator and cytokine gene polymorphisms (Toll-like receptor-4 (TLR-4) Asp299Gly, interleukin-6 G-174C and interleukin-4 C-589T) and CP from 443 CP infants and 883 control infants. Results were correlated with viral nucleic acids in the same samples. Results: At all gestational ages (GA), TLR-4 was associated with a decreased risk of developing CP (homozygous/heterozygous odds ratio (OR) 0.70, 95% confidence interval (CI) 0.50,0.98) and interleukin (IL)-6 was associated with an increased risk of developing hemiplegia (OR 1.38, 95% CI 1.05,1.83). For infants born 32,36 weeks GA, there was a tenfold increase in the risk of quadriplegic CP with homozygous/heterozygous IL-6 (OR 10.42, 95% CI 1.34,80.82). Viral exposure in combination with IL-4 in preterm infants was associated with a fourfold increased risk of quadriplegia (homozygous/heterozygous OR 4.25, 95% CI 1.21,14.95). In very preterm infants, the absence of detectable viral exposure in combination with IL-4 decreased the risk of developing CP (homozygous/heterozygous OR 0.31, 95% CI 0.13,0.76). Conclusion: Polymorphisms in TLR-4 may be associated with a decreased risk of CP. Polymorphisms in IL-6 or IL-4 may act as susceptibility genes, in the presence of viral exposure, for the development of hemiplegic and quadriplegic CP. These associations require confirmation but they suggest a hypothesis for CP causation due to double jeopardy from neurotropic viral exposure and genetic susceptibility to infection. [source] Cytokine gene polymorphisms and the inflammatory response to abdominal aortic aneurysm repair,BRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 9 2003M. J. Bown Background: Cytokines are key mediators of the inflammatory response to surgery and polymorphic sites in their genes have been shown to affect cytokine production in vitro. The aim of this study was to determine whether cytokine gene polymorphisms affect cytokine production in vivo in patients undergoing abdominal aortic aneurysm (AAA) repair. Methods: One hundred patients admitted for elective AAA repair had plasma levels of interleukin (IL) 1,, IL-6, IL-10 and tumour necrosis factor (TNF) , measured at induction of anaesthesia and 24 h after operation. Genotypes for each patient were determined using induced heteroduplex genotyping for the following loci: IL-1, + 3953, IL-6 , 174, IL-10 , 1082/,592 and TNF-, , 308. Results: Patients with an IL-10 , 1082 A allele had a significantly higher IL-10 response to surgery than those without an A allele (P = 0·030) and there was also a significant difference in IL-10 response between patients with IL-10 , 1082 AA genotypes and those with GG genotypes (P = 0·030). Conclusion: Elective AAA repair results in a measurable cytokine response. In this study the magnitude of this response was not affected by the individual patient's cytokine gene polymorphisms. Copyright © 2003 British Journal of Surgery Society Ltd. Published by John Wiley & Sons, Ltd. [source] Role of inflammation-related gene polymorphisms in branch retinal vein occlusionACTA OPHTHALMOLOGICA, Issue 2009M WEGER Purpose Branch retinal vein occlusion (BRVO) is a common vision-threatening disease. Some cytokines have previously been shown to exert proatherogenic as well as prothrombotic effects. Gene polymorphisms affecting the expression of these cytokines are thus plausible candidates as risk factors for BRVO. The purpose of the present study was to investigate hypothesized associations between cytokine gene polymorphisms and the presence of BRVO. Methods The present case-control study comprised 398 patients with BRVO and 355 control subjects. Using 5`exonuclease assays (TaqMan), genotypes of the following single nucleotide polymorphisms were determined: interleukin 1 beta (IL1B) -511C>T, interleukin 1 receptor antagonist (IL1RN) 1018T>C, interleukin 4 (IL4) -584C>T, interleukin 6 (IL6) -174G>C, interleukin 10 (IL10) -592C>A, interleukin 18 (IL18) 183A>G, tumor necrosis factor (TNF) -308G>A, monocyte chemoattractant protein 1 (CCL2) -2518A>G, interleukin 8 (IL8) -251A>T and RANTES (CCL5) -403G>A. Results Neither genotype distributions nor allele frequencies of any of the investigated polymorphisms differed significantly between BRVO patients and control subjects (IL1B -511TT: 7.8% vs. 9.6%, p=0.68; IL1RN 1018CC: 12.1% vs. 13.5%, p=0.15, IL4 -584TT: 1.3% vs. 2.3%, p=0.58; IL6 -174CC: 17.8% vs.18.6%, p=0.97; IL10 -592AA: 5.3% vs. 9.0, p=0.14; IL18 183GG: 3.0 vs. 6.2%, p=0.11; TNF -308AA: 1.5% vs. 1.4%, p=0.95; CCL2 -2518GG: 6.5% vs. 4.5%, p=0.48; IL8 -251TT: 26.9% vs. 28.7%, p=0.23; CCL5 -403AA: 3.3% vs. 4.5%, p=0.63). Conclusion Our data suggest that none of the investigated cytokine gene polymorphisms is likely a major risk factor for BRVO. [source] Analysis of cytokine genes polymorphism as markers for inhibitor development in haemophilia AINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 2 2010D. Chaves Summary Antibodies that block factor VIII (FVIII) activity appear in some haemophilia A patients treated with FVIII replacement therapy and severely impaired treatment. To date, the mechanisms that lead to this immune response are unknown. In this work, haplotypes of cytokine interleukin 10 (IL-10) gene have been associated with the presence of FVIII inhibitors in a group of Brazilian haemophilia A patients. The coexistence of a haplotype defining high IL-10 synthesis and one defining an intermediate production of cytokines is found to be associated with the group of patients who have a history of inhibitor development. Additionally, the coexistence of haplotypes defining high and low IL-10 syntheses is strongly associated with the group of negative inhibitors. These results have shown that the simple association considering only the presence or the absence of a haplotype and the development of inhibitors in haemophilia A is not sufficient. Data obtained in this work sustain the idea that the genetic studies may partly explain why only approximately 25% of haemophilia A patients develop FVIII inhibitors. Other genetic issues and details of the protein replacement therapy should be considered to measure the chances of a patient to develop anti-FVIII antibodies. [source] | ||||||||||