Abstract：
:Most humans lack a functional CASP12 gene, with the nonfunctional variant (CASP12p1), found in 100% of the Caucasian and east Asian population, and in approximately 80% of people of African descent. However, 20% of Africans carry an intact allele of CASP12, which produces a full-length pro-enzyme and increases the risk of sepsis. We examined CASP12 allele distribution in persons from central and southern Asia and found that CASP12 was significantly present in members of the Dravidian language group, particularly in persons from the Indian state of Tamil Nadu.
journal_name
Int J Immunogenetjournal_title
International journal of immunogeneticsauthors
Yavari M,Brinkley G,Klapstein KD,Hartwig WC,Rao R,Hermel Edoi
10.1111/j.1744-313X.2012.01107.xsubject
Has Abstractpub_date
2012-10-01 00:00:00pages
389-93issue
5eissn
1744-3121issn
1744-313Xjournal_volume
39pub_type
杂志文章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...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/iji.12255
更新日期：2016-04-01 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
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abstract：:Programmed death ligand-1 (PD-L1) plays an important role in the attenuation of adaptive immune responses in higher vertebrates. Here, we describe the identification of the Pekin duck PD-L1 orthologue (duPD-L1) and its gene structure. The duPD-L1 cDNA encodes a 311-amino acid protein that has an amino acid identity of...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/iji.12175
更新日期：2015-04-01 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：: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：: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
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abstract：:HLA donor-specific antibodies developed de novo after transplant remain a major cause of chronic allograft dysfunction. Our study main purpose was to determine whether HLA MM, assessed traditionally and by HLA total and AbVer eplet mismatch load (EptMM and EpvMM) assessed with HLAMatchMaker, had impact on dnDSA develo...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/iji.12519
更新日期：2021-02-01 00:00:00
abstract：:The present study aimed to analyse the frequencies of human leukocyte antigen HLA-ABCDQB1 and HLA-DRB1 alleles and haplotypes in a subset of 3,732 Han population from Hubei of China. All samples were typed in the HLA-ABCDQB1 and HLA-DRB1 loci using the sequence-based typing method; subsequently, the HLA polymorphisms ...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/iji.12516
更新日期：2021-02-01 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：:We report here a novel human leukocyte antigen (HLA) allele, DRB1*1449, in the Han-Chinese population. The nature of the new allele was confirmed by the sequencing-based typing (SBT) method. Genomic DNA and six subclones containing DNA fragment of DRB1 exon 2 were sequenced in both forward and reverse directions. The ...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2005.00557.x
更新日期：2006-02-01 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：: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：: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：:Knowledge on blood group phenotypes is of key importance in clinical practice. It used in blood transfusion practice to determine the direction of recruitment of voluntary donors as required for each population within a country, and for disease association and population genetics studies. This study aimed at reporting...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/iji.12412
更新日期：2019-04-01 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：: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：:We report the identification of a novel HLA-DRB1*04, officially named DRB1*0460. It was detected during performing HLA-DRB1 high resolution typing by DNA sequencing-based method. The exon 2 nucleotide sequence of DRB1*0460 is identical to that of DRB1*040301 except at codon 63 (AGC-->AAC), changing the encoded serine ...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2006.00641.x
更新日期：2007-02-01 00:00:00
abstract：:Induced heteroduplex genotyping (IHG) is one of many methods that can be used to determine single nucleotide polymorphisms (SNPs). It is relatively new in comparison to other polymerase chain reaction (PCR)-based techniques. The aim of this study was to compare the results of genotyping using IHG with the results of g...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2005.00494.x
更新日期：2005-04-01 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：:Catalase (CAT) is an antioxidant enzyme and plays a significant role in the protection against oxidative stress by reducing hydrogen peroxide. The CAT cDNA of Eriocheir sinensis (EsCAT) was cloned via RACE technique. The complete sequence of EsCAT cDNA consisted of a 5' untranslated regions (UTR) of 224 bp, a 3' UTR o...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/iji.12019
更新日期：2013-06-01 00:00:00
abstract：:Leprosy is one of the most neglected infectious tropical diseases of the skin and the nerves caused by the intracellular pathogen Mycobacterium leprae. The inducible NOS isoform encoded by NOS2A plays a vital role in host defence against bacterial infections. The functional promoter polymorphisms in NOS2A are associat...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/iji.12108
更新日期：2014-06-01 00:00:00
abstract：:Insulin resistance (IR) and pancreatic beta-cell dysfunction are usual comorbidities in polycystic ovary syndrome (PCOS). Vascular endothelial growth factor (VEGF) is known to play an important role in the pathogenesis of PCOS. This study examined firstly the possible association of common +405 G/C,-460 T/C and -2578 ...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2010.00915.x
更新日期：2010-08-01 00:00:00
abstract：:The aim of this study was to investigate the genetic association between recurrent aphthous stomatitis (RAS) and human leucocyte antigen (HLA) class I and II alleles and HLA haplotypes. Families selected had at least one child suffering from recurrent aphthous stomatitis in addition to one or both of the parents. HLA-...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2008.00801.x
更新日期：2008-12-01 00:00:00
abstract：:Perforin is one of the key effector molecules of cytotoxic T cells and natural killer cells. The influence of HLA-DRB1 alleles on peripheral blood perforin-positive CD4, CD8, CD16 and CD 56 cells was studied by flow cytometry. HLA-DRB1 typing was done in normal healthy subjects (NHS: n = 156) and patients with pulmona...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2007.00703.x
更新日期：2007-10-01 00:00:00
abstract：:The single nucleotide polymorphism (SNP) G949T in the mannose-binding lectin ( MBL ) 1 gene has been associated with low MBL-A concentration in serum and detected at different frequencies in various European pig populations. However, the origin of this SNP is not known. Part of the MBL1 gene was sequenced in 12 wild b...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2012.01132.x
更新日期：2013-04-01 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：: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：: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：:The aim of this study was to evaluate the frequency of TNFa-e microsatellites and the promoter region (TNF-308 and TNF-238) in HIV/AIDS-infected patients presenting or not lipodystrophy syndrome (LS). The design is the genetic case-control association study. Microsatellite and the TNF promoter region polymorphisms wer...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2010.00937.x
更新日期：2010-10-01 00:00:00
abstract：:We report here the novel variant of HLA-DRB1*09:01, DRB1*09:01:08, discovered in a Taiwanese volunteer bone marrow donor by a sequence-based typing (SBT) method. The DNA sequence of DRB1*09:01:08 is identical to the sequence of DRB1*09:01:02 in exon 2 except a silent mutation at nucleotide position 261(C→T) (GCC→GCT a...
journal_title：International journal of immunogenetics
pub_type： 杂志文章
doi：10.1111/j.1744-313X.2012.01143.x
更新日期：2013-04-01 00:00:00
