Abstract:
:Genes involved in regulation of the nuclear factor - kappa B (NF-κB) pathway are suggested to play a role in the pathogenesis of acute myeloid leukaemia (AML). The present study aimed to assess the association between the NF-κB1, TRAF3 and TLRs genes single nucleotide polymorphisms (SNPs) and disease susceptibility as well as progression in patients with AML. For this purpose 62 patients and 126 healthy individuals were genotyped for NF-κB1 (rs28362491), TRAF3 (rs11160707; rs12147254), TLR2 (rs201786064), TLR4 (rs4986790; rs4986791) and TLR9 (rs5743836; rs187084) alleles. Three SNPs were found to be associated with the risk for the AML development. The TRAF3 (rs12147254) AA homozygosity (RR = 2.770, P = 0.0392), TLR9 (rs5743836) C wild-type allele (RR = 2.542, P = 0.0096) as well as TLR9 (rs187084) T allele (RR = 13.396, P < 0.0001) and its homozygosity (RR = 11.805, P < 0.0001) were more frequent among patients with AML than healthy individuals. The associations of the rs187084 SNP were significant for both sexes. Moreover, patients who relapsed were more frequently characterized with the presence of the rs187084 TLR9 TT genotype (P = 0.045) or the rs12147254 TRAF3 A variant (P = 0.066). In conclusion, polymorphisms within the TLR9 and TRAF3 genes are associated with predisposition to AML and may affect the progression of the disease in the Polish population.
journal_name
Int J Immunogenetjournal_title
International journal of immunogeneticsauthors
Rybka J,Gębura K,Wróbel T,Wysoczańska B,Stefanko E,Kuliczkowski K,Bogunia-Kubik Kdoi
10.1111/iji.12255subject
Has Abstractpub_date
2016-04-01 00:00:00pages
101-6issue
2eissn
1744-3121issn
1744-313Xjournal_volume
43pub_type
杂志文章abstract::Many genes related to innate and adaptive immunity reside within the major histocompatibility complex (MHC) and have been associated with a multitude of complex, immune-related disorders. Despite years of genetic study, this region has seen few causative determinants discovered for immune-mediated diseases. Reported a...
journal_title:International journal of immunogenetics
pub_type: 杂志文章,评审
doi:10.1111/iji.12236
更新日期:2015-12-01 00:00:00
abstract::Food allergy is a potentially fatal immune-mediated disorder with incompletely understood mechanisms. We studied the genetic control of food allergy using major histocompatibility complex-identical mice (H2(s)) and an adjuvant-free method of sensitization. Whereas, transdermal exposure to hazelnut - a model allergenic...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2009.00860.x
更新日期:2009-10-01 00:00:00
abstract::Mannose binding lectin (MBL) is an important innate immune system pattern recognition molecule. The MBL gene polymorphisms are reported to play a crucial role in outcome of hepatitis B virus (HBV) infection. In this study, we ascertained the association of MBL genotypes with HBV outcome in a South Indian population. T...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2010.00908.x
更新日期:2010-06-01 00:00:00
abstract::C-reactive protein (CRP) is an inflammation marker implicated in the pathogenesis of schizophrenia. To investigate association of the CRP rs1417938, rs1800947, rs1205 variants with susceptibility to schizophrenia 208 unrelated Armenians (103 patients and 105 healthy controls) were genotyped. In this pilot study, none ...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2010.00942.x
更新日期:2010-10-01 00:00:00
abstract::According to the IMGT/HLA Database, the DNA sequence of A*11:53 is identical to A*11:02:01 in exons 2, 3, 4 and 5 except at codon 276. A*11:53 was reported as a rare variant of A*11, while A*11:02:01 was understood to be the second most frequently observed variant of A*11 after A*11:01:01 in Taiwanese. We sequenced HL...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2012.01121.x
更新日期:2012-12-01 00:00:00
abstract::Coenzyme Q (CoQ or ubiquinone) is a lipid-soluble component of virtually all types of cell membranes and has been shown to play multiple metabolic functions. Several clinical diseases including encephalomyopathy, cerebellar ataxia and isolated myopathy were shown to be associated with CoQ deficiency. However, the role...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2011.01012.x
更新日期:2011-08-01 00:00:00
abstract::Polymorphisms within genes coding innate immune response proteins are involved in genetic susceptibility to various conditions. We investigated the frequency of P2RX7 A1513C and TLR2 -196 to -174 ins/del polymorphisms in healthy Polish population. Frequency of minor alleles was relatively similar to the pattern presen...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12185
更新日期:2015-06-01 00:00:00
abstract::The Luminex xMAP system has become an important tool for HLA antibody screening and identification in sera of transplant patients. Recently, the Luminex single antigen bead assay was shown to be prone to an artefact, the so called prozone phenomenon: Sera with high titer HLA antibodies gave negative results when teste...
journal_title:International journal of immunogenetics
pub_type: 杂志文章,评审
doi:10.1111/j.1744-313X.2012.01147.x
更新日期:2013-06-01 00:00:00
abstract::A novel MICB allele, MICB*030, has been identified in a healthy Chinese individual of Mongol ethnicity residing in northern China by polymerase chain reaction sequence-based typing (PCR-SBT) and confirmed by cloning and sequencing. MICB*030 was linked to HLA-B*35. Aligned with MICB*005:02, MICB*030 has a nonsynonymous...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12207
更新日期:2015-08-01 00:00:00
abstract::Haematopoietic stem cell transplantation (HSCT) remains the only cure for most haematological malignancies, however, the mortality rate remains high. Complications after HSCT include relapse, graft versus host disease (GvHD), graft rejection and infection. Over the last few years several groups, have demonstrated that...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12380
更新日期:2018-07-25 00:00:00
abstract::Heme oxygenase isoenzyme HO-1 has been linked to several cytoprotective functions with a potentially beneficial role in transplantation. In the present study, the effect of genetic variation in HO-1 on renal allograft outcome was investigated. Six hundred and eighty patients subject to renal transplantation in a singl...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2007.00688.x
更新日期:2007-08-01 00:00:00
abstract::Routine HLA typing of a renal patient for purposes of registration for transplantation revealed an unusual human leucocyte antigen (HLA)-B and Cw genotype, with three specificities detected. Results were confirmed in a second sample, and in a second laboratory. The possibility of these results reflecting a chimaeric s...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2006.00610.x
更新日期:2006-08-01 00:00:00
abstract::A new allelic variant in MICB*005 lineage, MICB*005:09, has been identified in a male Uyghur individual recruited from Xinjiang Uyghur Autonomous Region, China by PCR-sequence-based typing (Sanger sequencing) and confirmed by cloning and sequencing. Aligned with MICB*005:03, this new allelic variant shows a synonymous...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12410
更新日期:2019-02-01 00:00:00
abstract::Sunlight/ultraviolet (UV) irradiation has been recognized as an important risk factor for developing systemic lupus erythematosus (SLE). However, the interpretation of genetic variations involved in UV-light sensitivity is largely unknown. Recent studies indicated that two genetic variations of ERCC2/XPD gene (rs17997...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2008.00817.x
更新日期:2009-02-01 00:00:00
abstract::The FCGR locus is characterized by high polymorphism and sequence homology. In particular, the Ile232Thr polymorphism in the FCGR2B gene results in inaccurate genotyping in most published papers. The purpose of the study was to develop an accurate genotyping assay able to discriminate this polymorphism. ...
journal_title:International journal of immunogenetics
pub_type: 临床试验,杂志文章
doi:10.1111/iji.12351
更新日期:2018-02-01 00:00:00
abstract::FcγRIIB contains a unique immunoreceptor tyrosine-based inhibition motif (ITIM) and functions as a negative feedback regulator of leucocyte activation and antibody production. We have previously reported FcγRIIB-nt645+25A/G gene polymorphism to be associated with prevalence and severity of periodontitis, FcγRIIB expre...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2012.01124.x
更新日期:2012-12-01 00:00:00
abstract::Interleukin-18 (IL-18) plays a vital role in both innate and acquired immunity. We analysed polymorphisms at -607(C/A) and -137(G/A) in the promoter region of IL-18 gene by allele-specific polymerase chain reaction in normal healthy subjects (n = 173) and patients with pulmonary tuberculosis (n = 165). Allele, genotyp...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2007.00714.x
更新日期:2007-10-01 00:00:00
abstract::Tumour necrosis factor alpha (TNF-α) has an important role in inflammatory response. Alterations in the regulation of TNF-α have been implicated in a variety of inflammatory disorders, including Inflammatory bowel disease (IBD). Indeed, a common treatment for IBD is the use of TNF-α inhibitors. Polymorphisms in the TN...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12059
更新日期:2014-02-01 00:00:00
abstract::In recent years, with the application of genotyping technology, there has been a substantial increase in the number of reported blood group alleles. This survey was designed to evaluate new molecular blood group genotyping methods and compile reference blood group data sets for Polynesian and Maori subjects. Subsequen...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12073
更新日期:2013-12-01 00:00:00
abstract::We have used molecular methods to determine the frequencies of human leukocyte antigen (HLA)-A, -B and -C alleles in normal, healthy, unrelated individuals from North India using polymerase chain reaction and hybridization with sequence-specific oligonucleotide probes as there is no comprehensive report showing molecu...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2007.00677.x
更新日期:2007-06-01 00:00:00
abstract::Single nucleotide polymorphisms (SNPs) in immune-related genes have been shown to play a role in driving the development of the severe phenotypes of dengue virus (DENV) infection. We assessed the association between IFNL3 gene SNP (rs12979860) and dengue clinical outcomes in children. Patients with dengue-related symp...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12477
更新日期:2020-08-01 00:00:00
abstract::Nitric oxide (NO) is an endogenous vasodilator involved in inflammatory and autoimmune response, and in the pathophysiology of diabetic vascular disease. Endothelium-derived NO is formed from L-arginine by endothelial NO synthase (eNOS), and earlier studies have provided evidence for altered NO metabolism and impaired...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2009.00839.x
更新日期:2009-06-01 00:00:00
abstract::Hashimoto's thyroiditis (HT) is the most prevalent autoimmune thyroid disorder caused by an interaction between genes and environmental triggers. Intrathyroid lymphocytic infiltration may lead to progressive destruction of thyroid tissue and consequently to hypothyroidism. Many studies in different populations have sh...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12199
更新日期:2015-06-01 00:00:00
abstract::Human papillomavirus (HPV) infection can lead to the development of productive epithelial lesions and cervical cancer. Most cervical HPV infections are solved by cell-mediated immunity within 1-2 years, and it is known that chronic inflammation predisposes to lesions progression and tumour development. In this context...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12444
更新日期:2019-10-01 00:00:00
abstract::Polymorphic Alu insertions (POALINs) are found throughout the human genome and have been used in various studies to infer geographic origin of human populations. The main aim of this study was to determine the allele and haplotype frequencies of five POALINs, AluHF, AluHG, AluHJ, AluTF and AluMICB, within the major hi...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12426
更新日期:2019-08-01 00:00:00
abstract::Pemphigus foliaceus (PF) is an autoimmune bullous epidermal disease, characterized by autoantibodies specific to the desmosomal protein desmoglein 1 (dsg1) and by acantholysis, the rupture of the cellular junctions among keratinocytes. Known also as fogo selvagem (wild fire) in Brazil, the disease has distinct epidemi...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2006.00585.x
更新日期:2006-04-01 00:00:00
abstract::Autoimmune diabetes [type 1 diabetes mellitus (T1DM), latent autoimmune diabetes in adults (LADA) and part of malnutrition-related diabetes] has been shown to have genetic predisposition. Studies in IDDM 5 have lead to the discovery of a novel polymorphism 163 A-->G, of SUMO4 (small ubiquitin-related modifier) gene, a...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2007.00668.x
更新日期:2007-04-01 00:00:00
abstract::This piece was originally requested as a white paper from the Scientific and Clinical Affairs Committee of the American Society for Histocompatibility and Immunogenetics (ASHI), of which the author was then Chairman. Upon review by the ASHI Board of Directors and the Editors of their journal, it was considered too con...
journal_title:International journal of immunogenetics
pub_type: 杂志文章,评审
doi:10.1111/j.1744-313X.2008.00768.x
更新日期:2008-08-01 00:00:00
abstract::Matrix metalloproteinase 9 plays an important role in the development of bronchial asthma. We were interested in whether the polymorphisms -T1702A, -C1562T, R279Q and +C6T within the matrix metalloproteinase 9 (MMP-9) gene were associated with asthma in a population of 231 asthmatic children. However, we found no asso...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2005.00516.x
更新日期:2005-08-01 00:00:00
abstract::Cytokines are essential for the control of the immune response as most of the immunosuppressive drugs target cytokine production or their action. The calcineurin inhibitors (CNIs) cyclosporine (CsA) and tacrolimus are immunosuppressive drugs widely used after renal transplantation to prevent allograft rejection. They ...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12192
更新日期:2015-06-01 00:00:00