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 epidemiological characteristics, being endemic in certain regions of South America. It is a multifactorial (complex) disease, with oligo- or polygenic disease susceptibility. In view of the previously reported evidences of a role for apoptosis dysregulation in pemphigus pathogenesis, we hypothesized that genetic variants of molecules participating in apoptosis may contribute to interindividual variation of susceptibility to PF. The TP53 12139(G,C) and the BAX-248(G,A) single nucleotide polymorphisms (SNP) were analysed in a genetic association study. The allelic, genotypic and allele carrier frequencies for these SNPs did not differ statistically between the patient and the control groups, for both the Euro- and the Afro-Brazilian population strata. The results of this study lead us to conclude that, although the TP53 and BAX alleles analysed differ functionally, this variation does not alter the functionality of the molecules in a way that would interfere with the development of the disease.
journal_name
Int J Immunogenetjournal_title
International journal of immunogeneticsauthors
Köhler KF,Petzl-Erler MLdoi
10.1111/j.1744-313X.2006.00585.xsubject
Has Abstractpub_date
2006-04-01 00:00:00pages
141-4issue
2eissn
1744-3121issn
1744-313Xpii
EJI585journal_volume
33pub_type
杂志文章abstract::The killer-cell immunoglobulin-like receptors (KIR) form a diverse family of receptors that control the functions of natural killer cells. Sequencing of KIR from primates has revealed the unexpected extent to which this gene family has diversified mostly likely in response to pathogens and to pathogen-mediated selecti...
journal_title:International journal of immunogenetics
pub_type: 杂志文章,评审
doi:10.1111/j.1744-313X.2008.00756.x
更新日期:2008-04-01 00:00:00
abstract::Haematopoietic stem cell transplantation (HSCT), using unrelated donors (UD), is now a common modality of treatment for individuals with a variety of different diseases. HLA matching has been shown to have a significant impact on patient outcome. This study includes 423 unrelated UK patient/donor pairs. The patients a...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2008.00793.x
更新日期:2008-08-01 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::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::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::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::Tumour necrosis factor-alpha (TNFalpha) has been implicated in the pathogenicity of severe sepsis by both genetic association studies and animal models. Conflicting functional data have emerged in relation to genetic variants and TNFalpha protein production. Therefore, we assessed the functionality of TNFalpha genetic...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2008.00773.x
更新日期:2008-08-01 00:00:00
abstract::Toll-like receptor 4 (TLR4) is the most important TLR among the pattern recognition receptors which recognizes lipopolysaccharide of gram-negative bacteria. They identify a highly conserved structure of microbes called pathogen-associated molecular patterns and activate immune and inflammatory responses that have been...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12115
更新日期:2014-12-01 00:00:00
abstract::We propose a bioinformatics pipeline in which we use an ESTs database to predict and validate single-nucleotide polymorphisms (SNPs) directly linked to gene-coding regions at the HLA class I genes (HLA-A, HLA-B and HLA-C). Annotation originated from our analysis revealed various classes of possible new variations that...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2011.01076.x
更新日期:2012-06-01 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::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::The objective was to analyze the possible involvement of tumour necrosis factor-alpha (TNF-α) -308 G/A promoter polymorphism in the susceptibility and/or the disease profile of rheumatoid arthritis (RA) in Egyptian patients. TNF-α-308 G/promoter polymorphism detection by amplification refractory mutation system (ARMS)...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2011.01028.x
更新日期:2011-10-01 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::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::The distributions of HLA allele and haplotype are variable in different ethnic populations and the data for some populations have been published. However, the data on HLA-C and HLA-DQB1 loci and the haplotype of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci at a high-resolution level are limited in Zhejiang Han popu...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12411
更新日期:2019-02-01 00:00:00
abstract::Cytotoxic T lymphocytes (CTLs) play an essential role in the control of viral replication during human immunodeficiency virus (HIV) infection. However, the efficacy of the CTL response varies between individuals. We tested the hypothesis that genetic polymorphisms in the lytic effector molecule perforin could influenc...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2006.00571.x
更新日期:2006-04-01 00:00:00
abstract::In this study, we aimed to find new genes associated with rheumatoid arthritis (RA) so that more comprehensive genes would be used for monitoring and/or diagnosing patients. Illumina digital gene expression profiling was applied in two sample types - peripheral blood mononuclear cells (PBMCs) and synovial cells to com...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12313
更新日期:2017-06-01 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::Cytotoxic T lymphocyte-associated antigen-4 is a cell-surface molecule providing a negative signal for T cell activation. CTLA-4 gene polymorphisms are known to be related with genetic susceptibility to various autoimmune diseases, including systemic lupus erythematosus (SLE). However, the effects of this polymorphism...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2009.00856.x
更新日期:2009-08-01 00:00:00
abstract::Single nucleotide polymorphisms within the promoter or other regulatory sequences of cytokine genes were evaluated and compared between an Iranian population and populations of different ethnic/geographical background. In 40 healthy Iranian subjects, cytokine typing was performed by polymerase chain reaction-sequence-...
journal_title:International journal of immunogenetics
pub_type: 杂志文章,收录出版
doi:10.1111/j.1744-313X.2006.00595.x
更新日期:2006-06-01 00:00:00
abstract::The genetic and immunophenotypic characteristics of a 3-year-old patient with Blau syndrome (BS), an early onset sarcoidosis caused by mutations in NOD2, were investigated. Molecular analysis of NOD2 gene was achieved by PCR and direct nucleotide sequencing. Immunophenotyping included cytometric analysis of memory-eff...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2011.00998.x
更新日期:2011-06-01 00:00:00
abstract::The past decade has witnessed hundreds of reports declaring or not being able to replicable genetic association with systemic lupus erythematosus (SLE) susceptibility. BANK1 is a gene that encodes a B-cell-specific scaffold protein and its activation can affect B-cell-receptor-induced calcium mobilization from intrace...
journal_title:International journal of immunogenetics
pub_type: 杂志文章,meta分析
doi:10.1111/j.1744-313X.2010.00990.x
更新日期:2011-04-01 00:00:00
abstract::HLA-DQB1*06:48 has single nucleotide polymorphisms within codons 70 and 62 of exon 2 (GGG>AGG and AAG>AAC) relative to HLA-DQB1*06:02:01 and HLA-DQB1*06:37. This results in amino acid differences (G>R and K>N) that will change the polarity and charge of the encoded antigen and may therefore affect its peptide repertoi...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12004
更新日期:2013-08-01 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::We have characterized the HLA-A, -B, -DRB1, -DQA1 and -DQB1 profiles of three major ethnic groups living in Chelyabinsk Region of Russian South Urals, viz., Russians (n = 207), Bashkirs (n = 146) and Tatars (n = 135). First field level typing was performed by PCR using sequence-specific primers. Estimates included car...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/j.1744-313X.2012.01117.x
更新日期:2012-10-01 00:00:00
abstract::Illumina first introduced their TruSight human leucocyte antigen (HLA) next-generation sequencing (NGS) typing kit in 2015 and subsequently followed up with a new version in 2016. Here we report on our experience comparing the two versions of the Illumina HLA NGS kits. ...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12322
更新日期:2017-08-01 00:00:00
abstract::It is now over forty years since the first associations between particular HLA antigens and disease susceptibility were described, and the identification of large numbers HLA-associated diseases parallels our increased understanding of the genetic complexity of the HLA system and its extensive polymorphism. However, s...
journal_title:International journal of immunogenetics
pub_type: 杂志文章,评审
doi:10.1111/iji.12088
更新日期:2014-02-01 00:00:00
abstract::Pemphigus foliaceus (PF) is an autoimmune skin disease characterized by autoantibodies directed mainly against desmoglein-1. The purpose of this study was to determine whether differential susceptibility to endemic PF in Brazil (fogo selvagem) is associated with polymorphisms at the cytogenetic location 1p13.2. Four s...
journal_title:International journal of immunogenetics
pub_type: 杂志文章
doi:10.1111/iji.12423
更新日期:2019-06-01 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::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