International Journal of Immunogenetics
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Functional polymorphism of cytotoxic T-lymphocyte antigen 4 and nasopharyngeal carcinoma susceptibility in a Chinese population
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In this study, we performed a case[ndash]control study in a Chinese population. Our result showed that the CTLA-4 +49 A>G polymorphism is associated with NPC susceptibility. The subjects carrying the CTLA-4 +49 AA genotype have a [sim]1.8-fold increased risk of NPC (adjust OR 1.83; 95% CI, 1.16[ndash]2.93) when compared with the GG genotype. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - November 17, 2009 Category: Genetics & Stem Cells Authors: M. Xiao, F. Qi, X. Chen, Z. Luo, L. Zhang, C. Zheng, S. Hu, X. Jiang, M. Zhou, J. Tang Source Type: journals
Nomenclature for factors of the HLA system, update September 2009*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - November 12, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Nomenclature for factors of the HLA system, update July 2009*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - November 9, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Nomenclature for factors of the HLA system, update August 2009*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - November 9, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Molecular analysis of HumDN1 VNTR polymorphism of the human deoxyribonuclease I in systemic lupus erythematosus
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We report a significant association of HumDN1 VNTR polymorphism in DNASE1 gene with SLE. Further functional assays needed to assess the effect of this VNTR on DNASE1 activity and its association with SLE. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 28, 2009 Category: Genetics & Stem Cells Authors: Suad AlFadhli, Bader AlTamimy, Najla Kharrat, Khalid AlSaeid, Mohamad Z. Haider, Ahmed Rebai Source Type: journals
HLA-G 3'-UTR SNP and 14-bp deletion polymorphisms in Portuguese and Guinea-Bissau populations
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In the HLA-G locus, the 3'-untranslated region (3'-UTR) begins in the mid exon 6, and ends in exon 8. The occurrence of a 14-bp deletion within exon 8, the only mutation known until now in the 3'-UTR, has been considered a risk factor for disease and allograft rejection. To describe the polymorphism within this region, direct sequencing analysis was performed on 120 DNA samples from Portugal and Guinea-Bissau. Results indicate that exon 8 is less conserved than the coding exons. Nine single nucleotide polymorphisms and the previously described 14-bp deletion were found within exon 8 of both populations. Molecular diversity...
Source: International Journal of Immunogenetics - October 11, 2009 Category: Genetics & Stem Cells Authors: M. Alvarez, J. Piedade, S. Balseiro, G. Ribas, F. Regateiro Source Type: journals
Associations of the IL-1 and TNF gene polymorphisms in the susceptibility to duodenal ulcer disease in Chinese Han population
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Our aim was to investigate whether genetic polymorphism of IL-1[Beta]-511, IL-1RN, TNF-A-308 are involved in the susceptibility to duodenal ulcer (DU). 437 unrelated Chinese Han patients with DU and 148 healthy controls were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method for the IL-1B-511, TNF-A-308 gene polymorphisms and the VNTR polymorphism in intron 2 of the IL-1RN gene polymorphisms. There was no difference in the genetic polymorphism of IL-1[Beta]-511, IL-1RN and TNF-A-308 in the patients with DU compared with control. After stratified by Helicobacter pylori infection, they...
Source: International Journal of Immunogenetics - October 4, 2009 Category: Genetics & Stem Cells Authors: Q. Mei, J.-M. Xu, H.-L. Cao, D.-M. Bao, N.-Z. Hu, L. Zhang, Y.-M. Hu Source Type: journals
Oct-1 is responsible for the C-33T polymorphism effect in the IL-4 promoter
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IL-4 is a pleiotropic immunoregulatory cytokine secreted by Th2 subset of CD4+ Th cells. Several transcription factors (TFs) have been determined with various degrees of certainty to bind the IL-4 promoter and to regulate its expression in human. To investigate the mechanisms responsible for phenotypic effects of the C-33T IL-4 promoter polymorphism, we performed a search of TFs binding to this promoter locus and discriminating the [minus]33C and [minus]33T alleles. In silico searches suggest few factors bind this region. Using an electromobility shift assay we found that Jurkat T cells contained proteins which specificall...
Source: International Journal of Immunogenetics - October 4, 2009 Category: Genetics & Stem Cells Authors: Y. V. Gervaziev, L. V. Olenina, J. V. Krasotkina, A. Y. Lupatov, S. A. Mazurina, V. B. Gervazieva Source Type: journals
A novel Y331X nonsense mutation in TNFRSF1A gene in two unrelated Turkish families with periodic fever syndrome
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In conclusion, in Turkish patients, with dominantly inherited recurrent fever, TRAPS is a diagnosis worthy of attention and novel mutations have to be reported with phenotype associations. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 4, 2009 Category: Genetics & Stem Cells Authors: N. Kutukculer, N. Gulez, N. Karaca, G. Aksu, A. Berdeli Source Type: journals
Genetic variation in CXCL12 and risk of cervical carcinoma: a population-based case–control study
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CXCL12 provides a chemotactic signal-directing leucocyte migration and regulates metastatic behaviour of tumour cells. We conducted a population-based case[ndash]control study to test the hypothesis that common genetic variation in CXCL12 individual single nucleotide polymorphism (SNP) alleles and haplotypes] is associated with the risk of cervical carcinoma. Cases (n = 917) were residents of western Washington State diagnosed with invasive squamous cell cervical carcinoma (SCC), invasive adenocarcinoma or adenosquamous carcinoma, or adenocarcinoma in situ of the cervix. Control participants (n = 849) were identified from ...
Source: International Journal of Immunogenetics - September 24, 2009 Category: Genetics & Stem Cells Authors: S. N. Maley, S. M. Schwartz, L. G. Johnson, M. Malkki, Q. Du, J. R. Daling, S. S. Li, L. P. Zhao, E. W. Petersdorf, M. M. Madeleine Source Type: journals
A unique display of toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms in non-Han Chinese Hani population
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The toll-like receptor 4 (TLR4) polymorphisms, Asp299Gly and Thr399Ile, were investigated with PCR-RFLP and DNA sequencing methods in 938 and 980 individuals from the Yunnan Hani ethnic minority and the majority Han population, respectively. Six heterozygotes for both Asp299Gly and Thr399Ile were detected in the Hani, a polymorphism frequency of 0.6397%, whereas no variants were found amongst the Han. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - September 16, 2009 Category: Genetics & Stem Cells Authors: B. Zheng, C. Wei, T. Shou, Q. Li, M. Yang, L. Yi, R. Zhou, J. Shao, C. Xiao Source Type: journals
Detection of a rare Caucasoid HLA-DRB1*0337 in a Taiwanese bone marrow donor using sequence-based typing method
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We here describe the identification of HLA-DRB1*0337, using sequence-based typing (SBT) method, in a Taiwanese bone marrow donor intrigued by a casual curiosity on the donor's racial background. On high-resolution sequence-specific primer (SSP) typing we observed misleading reaction patterns due to similarity of DNA sequences in the exon 2 of DRB1*0301, *0317, *0337 and *1139. When encountering rare alleles in HLA typing, it is important to pay extra attentions to avoid pitfalls and shortcomings of SSP typing kits routinely used and bear in mind that constant up-dating of high-resolution SSP typing kits to be able to disti...
Source: International Journal of Immunogenetics - September 16, 2009 Category: Genetics & Stem Cells Authors: M. J. Chen, C. C. Chu, M. H. Shyr, C. L. Lin, P. Y. Lin, K. L. Yang Source Type: journals
Plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a_1 genotypes
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An association has been repeatedly demonstrated between inflammatory bowel disease (IBD) and the IBD5 locus in the 5q31 chromosomal region. The aim of the present study was to examine the prevalence of the IGR2230a_1 intronic nucleotide polymorphism of the slc22a5 gene (coding for the OCTN2 carnitine transporter protein) lying within this region, and its possible relationship with the carnitine metabolism in Hungarian IBD patients and controls. We genotyped by restriction fragment length polymorphism 200 Crohn's disease (CD) and 246 ulcerative colitis (UC) patients, as well as 187 healthy controls. From plasma samples we d...
Source: International Journal of Immunogenetics - September 7, 2009 Category: Genetics & Stem Cells Authors: G. Talián, L. Lakner, J. Bene, K. Komlósi, K. Horváth, B. Gasztonyi, P. Miheller, M. Figler, G. Mózsik, Z. Tulassay, B. Melegh Source Type: journals
Analysis of the complete genomic sequence of HLA-A alleles in the Chinese Han population
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In this study, complete genomic sequences of common HLA-A alleles were obtained and the data will help us understand the evolution of HLA-A. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - September 6, 2009 Category: Genetics & Stem Cells Authors: F. Zhu, Y. He, W. Zhang, J. He, J. He, X. Xu, L. Yan Source Type: journals
A novel HLA-B allele, B*5214, detected in a Taiwanese volunteer bone marrow donor using a sequence-based typing method
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HLA-B*5214, a novel rare allele of HLA-B*52 variant, was found in a Taiwanese volunteer bone marrow donor by sequence-based typing method. The sequence of B*5214 is identical to that of B*520101 in exon 2 but differs from B*520101 in exon 3 at nucleotide positions 419 A[rarr]T and 435 A[rarr]G. Alteration of these two nucleotides resulted an amino acid substitution at amino acid residue 116 Y[rarr]F ( TAC[rarr]TTC) and a silent exchange at residue 121 K[rarr]K (AAA[rarr]AAG). (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - September 3, 2009 Category: Genetics & Stem Cells Authors: M. J. Chen, C. C. Chu, M. H. Shyr, C. L. Lin, P. Y. Lin, K. L. Yang Source Type: journals
Gene polymorphism in transforming growth factor-beta codon 10 is associated with susceptibility to Giardiasis
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Secretory immunoglobulin A (S-IgA) antibodies have a central role in anti-Giardial defence. It has been demonstrated that transforming growth factor-beta1 (TGF-[beta]1) stimulates B lymphocytes to produce and secrete S-IgA. We sought to determine the association between TGF-[beta]1 polymorphism (T+869C) with susceptibility to Giardiasis. The TGF-[beta]1 genotypes and levels of salivary (S-IgA) were analysed in individuals with Giardiasis (97 symptomatic and 57 asymptomatic) and controls (n = 92). Individuals with symptomatic Giardiasis had the lowest levels of S-IgA compared to individuals in asymptomatic Giardiasis and co...
Source: International Journal of Immunogenetics - August 24, 2009 Category: Genetics & Stem Cells Authors: H. Taherkhani, M. Hajilooi, M. Fallah, O. khyabanchi, M. Haidari Source Type: journals
HLA allele and haplotype frequencies in the Albanian population and their relationship with the other European populations
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Human leucocyte antigen (HLA) alleles are very interesting markers in identifying population relationships. Moreover, their frequency distribution data are important in the implementation of donor[ndash]recipient registry programs for transplantation purposes and also in determining the genetic predisposition for many diseases. For these reasons, we studied the HLA class I and II allele and haplotype frequencies in 160 healthy, unrelated Albanian individuals originating from all regions of the country. The HLA genotyping was performed through a 2-digit resolution SSOP method. The data were analysed with Arlequin and Phylip...
Source: International Journal of Immunogenetics - August 23, 2009 Category: Genetics & Stem Cells Authors: G. Sulcebe, A. Sanchez-Mazas, J.-M. Tiercy, E. Shyti, I. Mone, Z. Ylli, V. Kardhashi Source Type: journals
Structural polymorphism of the mannose-binding lectin 2 (MBL2 ) gene in HCV-infected patients with a serological marker for thyroid autoimmunity
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We studied the association of the mannose-binding lectin-2 (MBL2) polymorphism with anti-thyroid antibodies (ATA) in hepatitis C virus (HCV)-infected Brazilian patients (n = 162) and 124 healthy volunteers screened for ATA. Our results showed that patients with ATA had higher frequency of genotype 00 than controls. MBL may play a role as disease modifier in HCV infection. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - August 23, 2009 Category: Genetics & Stem Cells Authors: F. M. Melo, L. R. S. Vasconcelos, B. S. Silva, P. Moura, M. S. M. Cavalcanti, L. M. M. B. Pereira, H. R. Lacerda Source Type: journals
Confirmation of allele HLA-A*3116 found in a family of a leukaemia patient with Caucasian and Caribbean origin
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We confirm allele HLA-A*3116 that we found in the family of a leukaemia patient of mixed Caucasian and Caribbean origin by sequence based typing. This allele is closest related to HLA-A*310102 with one nucleotide replacement at position 221 (C>T) leading to an amino acid substitution at position 50 of the mature protein from proline to leucine. As the amino acid at position 50 in the alpha 1 domain is part of the peptide-binding region, this change could be relevant for the functionality in peptide presentation. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - August 23, 2009 Category: Genetics & Stem Cells Authors: P. S. Skrablin, V. Brixner, R. Richter, A. Boehme, E. Seifried, C. Seidl Source Type: journals
Analysis of high-resolution HLA-A, -B, -Cw, -DRB1, and -DQB1 alleles and haplotypes in 718 Chinese marrow donors based on donor–recipient confirmatory typings
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High-resolution human leucocyte antigen (HLA)-A, -B, -Cw, -DRB1, and -DQB1 alleles and haplotype frequencies were analysed from 718 Chinese healthy donors selected from the Chinese Marrow Donor Program registry based on HLA donor[ndash]recipient confirmatory typings. A total of 28 HLA-A, 61 HLA-B, 30 HLA-Cw, 40 HLA-DRB1 and 18 HLA-DQB1 alleles were identified, and HLA-A*1101, A*2402, A*0201, B*4001, Cw*0702, Cw*0102, Cw*0304, DRB1*0901, DRB1*1501, DQB1*0301, DQB1*0303 and DQB1*0601 were found with frequencies higher than 10% in this study population. Multiple-locus haplotype analysis by the maximum-likelihood method reveal...
Source: International Journal of Immunogenetics - August 10, 2009 Category: Genetics & Stem Cells Authors: A.-L. Hei, W. Li, Z.-H. Deng, J. He, W.-M. Jin, D. Du, X.-Y. Zhou, Y. Xiao, Z.-X. Zhang, J.-P. Cai Source Type: journals
Nomenclature for factors of the HLA system, June 2009 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - July 28, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
MHC microsatellites in a Southern Brazilian population
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This study contributes with important information on HLA haplotypes, and is potentially useful in resolving cases of low resolution HLA genotyping ambiguities. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - July 28, 2009 Category: Genetics & Stem Cells Authors: C. Sens-Abuázar, P. S. C. Santos, M. G. Bicalho, M. L. Petzl-Erler, V. Sperandio-Roxo Source Type: journals
Nomenclature for factors of the HLA system, April 2009 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - July 22, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Nomenclature for factors of the HLA system, May 2009 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - July 22, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Dominant, non-MHC genetic control of food allergy in an adjuvant-free mouse model
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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 (H2s) and an adjuvant-free method of sensitization. Whereas, transdermal exposure to hazelnut [mdash] a model allergenic food, elicited robust IgG1 response in both strains, an IgE response was evident only in A.SW mice. Following oral challenge, only A.SW but not SJL mice exhibited signs of systemic anaphylaxis and hypothermia. In addition, (A.SW × SJL) F1 hybrids exhibited IgE responsiveness, systemic anaphylaxis and hyp...
Source: International Journal of Immunogenetics - July 15, 2009 Category: Genetics & Stem Cells Authors: S. Parvataneni, N. P. Birmingham, B. Gonipeta, V. Gangur Source Type: journals
Association between a common IL10 distal promoter haplotype and IgE production in individuals with atopic dermatitis
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This study is the first to analyse the association between haplotype groups in the IL10 promoter region and clinical phenotypes in AD. We have demonstrated a significant association between the TSS-distal haplotype TGAC, and IgE levels in AD patients. It remains to be shown if there is an association between the TGAC haplotype and IL10 production, which might account for the stimulation of IgE production. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - June 24, 2009 Category: Genetics & Stem Cells Authors: K. Lacy, C. Archer, N. Wood, J. Bidwell Source Type: journals
The influence of class II transactivator and interleukin-6 polymorphisms on the production of antibodies to donor human leucocyte antigen mismatches in renal allograft recipients
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The influence of polymorphisms in the CIITA and IL-6 genes on donor-specific human leucocyte antigen antibody production was investigated in a cohort of renal transplant recipients and their donors. CIITA and IL-6 single nucleotide polymorphisms were found to be associated with donor-specific human leucocyte antigen antibody production post-transplantation. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - June 10, 2009 Category: Genetics & Stem Cells Authors: J. Martin, J. Worthington, S. Harris, S. Martin Source Type: journals
Sequence-based characterization of swine leucocyte antigen alleles in commercially available porcine cell lines
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A total of 53 alleles at five highly polymorphic swine leucocyte antigen (SLA) loci (SLA-1, SLA-3, SLA-2, SLA-DRB1, and SLA-DQB1) were identified in eight commercially available porcine cell lines (ESK-4, LLC-PK1, MPK, PK13, PK15, PT-K75, SK-RST, and ST). This information is essential for the use of these cell lines to understand the role of SLA genes and proteins in swine models of transplantation, xenotransplantation, and in swine immune responses to infectious diseases and vaccines. The ready availability of these cell lines also makes them a good source of reference DNA for SLA allele typing. (Source: International Jou...
Source: International Journal of Immunogenetics - June 9, 2009 Category: Genetics & Stem Cells Authors: C. S. Ho, M. H. Franzo-Romain, Y. J. Lee, J. H. Lee, D. M. Smith Source Type: journals
Nomenclature for factors of the HLA system, January 2009 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 26, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Nomenclature for factors of the HLA system, February 2009 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 26, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Nomenclature for factors of the HLA system, March 2009 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 26, 2009 Category: Genetics & Stem Cells Authors: Steven G. E. Marsh Source Type: journals
MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family
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We report a consanguineous extended family where four patients have immunodeficiency, three have X-linked agammaglobulinaemia and one has major histocompatibility complex class 2 deficiency. Within one family, two rare genetic diseases with similar clinical manifestations can occur. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 19, 2009 Category: Genetics & Stem Cells Authors: A. Broides, G. Shubinsky, R. Parvari, B. Grimbacher, R. Somech, B. Z. Garty, J. Levy Source Type: journals
Genetic susceptibility to haemorrhagic fever with renal syndrome caused by Hantaan virus in Chinese Han population
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We report a significantly higher occurrence of HLA-DRB1*09 (51% vs. 23%, P = 0.002, OR = 3.57) and HLA-B*46-DRB1*09 (26% vs. 8%, P = 0.018, OR = 3.76) in patients with haemorrhagic fever with renal syndrome (HFRS) compared to the control group, suggesting Hantaan virus-induced HFRS is associated with a genetic predisposition in the Chinese Han population. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 19, 2009 Category: Genetics & Stem Cells Authors: M. L. Wang, J. H. Lai, Y. Zhu, H. B. Zhang, C. Li, J. P. Wang, Y. M. Li, A. G. Yang, B. Q. Jin Source Type: journals
Detection of a novel HLA-B27 allele, B*2740, in Taiwanese volunteer bone marrow donors by sequence-based typing: curiosity rewarded
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We report here a novel HLA-B allele, B*2740, discovered in Taiwanese volunteer marrow donors. The new sequence has nucleotide variation at position 527 (T[rarr]A) as compared to B*2708. The nucleotide change caused an amino acid substitution from valine (V) to glutamic acid (E) at codon 152. Since B*2740 carries sequence confers to HLA-Bw6 public epitope we believe that this novel B*27 allele might have been generated from a gene conversion involving a Bw4-specific allele (probably B*2704) and a Bw6-specific allele. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 19, 2009 Category: Genetics & Stem Cells Authors: M. J. Chen, T. C. Yang, C. C. Chu, M. H. Shyr, C. L. Lin, P. Y. Lin, K. L. Yang Source Type: journals
The role of the CCR5 Δ32 polymorphism in abdominal aortic aneurysms
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Conclusion This study demonstrates that the ccr5 [Delta]32 is a biologically active genetic polymorphism; however, there is no association between this polymorphism and AAA. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 19, 2009 Category: Genetics & Stem Cells Authors: B. Sandford, M. Bown, N. London, R. Sayers Source Type: journals
Nomenclature for factors of the HLA system, December 2008 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - April 10, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Haplotype analysis of HLA-A, -B antigens and -DRB1 alleles in south Indian HIV-1-infected patients with and without pulmonary tuberculosis
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We have shown earlier the association of human leucocyte antigen (HLA)-A11 with resistance and HLA-B40 and -DR2 with susceptibility to HIV and HIV-TB. In the present study, we have attempted to find out the HLA-DR2 subtypes and the possible HLA-A/-B/-DRB1 haplotype combinations that are associated with susceptibility or resistance to HIV and HIV with pulmonary tuberculosis (HIV+PTB+). HLA-DR2 subtyping was carried out by polymerase chain reaction-based sequence-specific oligonucleotide probe method. Overrepresentation of HLA-DRB1*1501 in HIV-positive PTB-negative (HIV+PTB[ndash]) patients (P = 0.004, Pc = 0.06) and -DRB1*1...
Source: International Journal of Immunogenetics - April 9, 2009 Category: Genetics & Stem Cells Authors: S. Raghavan, P. Selvaraj, S. Swaminathan, K. Alagarasu, G. Narendran, P. R. Narayanan Source Type: journals
The combination of polymorphisms within MCP-1 and IL-1β associated with ulcerative colitis
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Monocyte chemoattractant protein-1 (MCP-1) is a chemokine involved in monocyte recruitment to sites of inflammation. Raised level of MCP-1 has been widely demonstrated in the intestinal mucosa of patients with ulcerative colitis (UC), suggesting an important role of MCP-1 in the pathogenesis of UC. The [ndash]2518A/G polymorphism in the promoter region of MCP-1 gene affecting its transcriptional activation has been reported recently. In order to assess the potential role of this polymorphism in UC, we examined its distribution in 162 unrelated UC patients and 203 healthy controls. In addition, considering the gene regulato...
Source: International Journal of Immunogenetics - April 9, 2009 Category: Genetics & Stem Cells Authors: K.-S. Li, B.-Y. Wang, S.-Y. Liu, S.-P. Yao, L. Guo, D.-W. Mao Source Type: journals
Decreased T-cell receptor excision DNA circles in peripheral blood mononuclear cells among benzene-exposed workers
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In conclusion, the recent thymic output function and the T-cell immune function were apparently impaired in workers after benzene exposure. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - February 20, 2009 Category: Genetics & Stem Cells Authors: L. Bo, L. Yangqiu, Y. Lijian, C. Shaohua, Y. Wei, C. Jiayu, L. Weiwei Source Type: journals
Nomenclature for factors of the HLA system, November 2008 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - February 18, 2009 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
Identification of a novel HLA-A allele, A*1131, in a Taiwanese
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Here we report the identification and sequence analysis of a new HLA-A11* variant, A*1131 allele, found in a Taiwanese volunteer bone marrow donor. The novel A*11 variant is identical to A*1125 in exon 2 but differs from A*1125 in exon 3 by one nucleotide substitution at position 527 causing an amino acid change at codon 152 E[rarr]V (GAG[rarr]GTG). In comparison with HLA-A*110101, allele A*1131 has three nucleotide differences in exon 3: 527 C[rarr]T, 538 C[rarr]T and 539 A[rarr]T leading to two amino acid variations at residues 152 A[rarr]V and 156 Q[rarr]L. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - February 18, 2009 Category: Genetics & Stem Cells Authors: M. J. Chen, C. C. Chu, M. H. Shyr, P. Y. Lin, K. L. Yang Source Type: journals
Molecular cloning and expression analysis of the pig small ubiquitin-like modifier (SUMO) gene family
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In this study, we have cloned cDNA encoding for three different pig SUMO isoforms. The full-length cDNA encoding for pig Sumo1, Sumo2 and Sumo4 consists of 306, 288 and 288 nucleotide base pairs of the open reading frame, respectively, and the putative amino acid sequences of pig Sumo1, Sumo2 and Sumo4 are composed of 101, 95 and 95 peptides, respectively. The structures of pig SUMOs are evolutionally well conserved, and their expression has been detected in a broad range of tissues. We also determined that all pig SUMOs are localized within the nucleus. However, the different tissue expression observed in individual pig S...
Source: International Journal of Immunogenetics - January 7, 2009 Category: Genetics & Stem Cells Authors: J. Y. Lee, Y. Park, S. J. Kim, C.-G. Park, T. Chun Source Type: journals
A comparative analysis of the products of GROEL-1 gene from Chlamydia trachomatis serovar D and the HSP60 var1 transcript from Homo sapiens suggests a possible autoimmune response
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Chlamydia trachomatis serovar D produces large quantities of HSP60-1 during infections, which accumulate inside the host cell inducing autoimmunity. We compare the aminoacid sequences of the human HSP60 with the bacterial counterpart to better elucidate how CTHSP60 may simulate HSP60 from human origin during infection and may induce an autoimmune response. As a result of the comparison we suggest several possible epitopes of the CTHSP60, which may induce autoimmunity. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - December 10, 2008 Category: Genetics & Stem Cells Authors: C. Campanella, A. Marino Gammazza, L. Mularoni, F. Cappello, G. Zummo, V. Di Felice Source Type: journals
Nomenclature for factors of the HLA system, September 2008 update*
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(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - December 3, 2008 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Source Type: journals
The non-inherited maternal HLA haplotype affects the risk for type 1 diabetes
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The aim was to test the hypothesis that the human leucocyte antigen (HLA) haplotype that is not inherited from the mother, that is, the non-inherited maternal antigen (NIMA) affects the risk for type 1 diabetes (T1D). A total of 563 children with T1D and 286 non-diabetic control children from Sweden were genotyped for DRB1, DQA1 and DQB1 alleles. The frequency of positively (DR4-DQA1*0301-B1*0302 and DR3-DQA1*0501-B1*0201), negatively (DR15-DQ A1*0102-B1*0602) or neutrally (all other) T1D associated HLA haplotypes were compared between NIMA and non-inherited paternal antigen (NIPA). All comparisons were carried out between...
Source: International Journal of Immunogenetics - December 1, 2008 Category: Genetics & Stem Cells Authors: K. Åkesson, A. Carlsson, S.-A. Ivarsson, C. Johansson, B.-M. Weidby, J. Ludvigsson, B. Gustavsson, Å. Lernmark, I. Kockum Source Type: journals
Identification of new variants within the two functional genes CCL3 and CCL3L encoding the CCL3 (MIP-1α) chemokine: implications for HIV-1 infection
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The CC chemokine CCL3 is encoded by two functional genes, namely CCL3 and CCL3L, and has been identified as a key chemokine in HIV-1 susceptibility and disease progression. The complete CCL3 and CCL3L genes and core promoters of 43 African mother[ndash]infant pairs (86 samples) and 28 Caucasian adults in South Africa were sequenced and extensively analysed for genetic variations. Africans were found to be more polymorphic in both genes with 25 single nucleotide polymorphisms (SNPs) in the CCL3 gene and 14 gene copy number single nucleotide polymorphisms (gcnSNPs) in the CCL3L gene, compared to nine CCL3 SNPs and eight CCL3...
Source: International Journal of Immunogenetics - December 1, 2008 Category: Genetics & Stem Cells Authors: M. Paximadis, N. Mohanlal, G. E. Gray, L. Kuhn, C. T. Tiemessen Source Type: journals
The peopling of Madeira archipelago (Portugal) according to HLA genes
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The Madeira-Porto Santo Archipelago was officially colonized in 1420 by Portuguese settlers. Its importance in Columbus' information for the American discovery and for slave traffic across the Atlantic is unquestionable. Thus, a complex peopling may have given rise to a present-day high admixture of ethnicities according to HLA genes. A sample of 173 healthy unrelated Madeirans was analysed and compared with 6986 HLA chromosomes from other worldwide populations. Genetic distances, neighbour-joining dendrograms and correspondence analyses were used for comparisons. Southern European, North African (including Canary Islands)...
Source: International Journal of Immunogenetics - December 1, 2008 Category: Genetics & Stem Cells Authors: A. Arnaiz-Villena, R. Reguera, A. Ferri, L. Barbolla, S. Abd-El-Fatah-Khalil, N. Bakhtiyarova, P. Millan, J. Moscoso, A. Mafalda, J. I. Serrano-Vela Source Type: journals
NRAMP1 (SLC11A1) gene polymorphisms that correlate with autoimmune versus infectious disease susceptibility in tuberculosis and rheumatoid arthritis
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NRAMP1 gene has multiple pleiotropic effects on macrophage activation pathways. These pleiotropic effects may increase resistance to infections such as tuberculosis (TB), but may also lead to susceptibility of autoimmune diseases such as rheumatoid arthritis (RA). It has been hypothesized that allele 3 would be associated with autoimmune diseases, whereas allele 2 would be associated with infectious diseases, and genetic factors that enhanced survival in the epidemics of TB might have led to susceptibility for the development of RA. We analysed four NRAMP1 gene polymorphisms including 5' promoter (GT)n (rs34448891), INT4 (...
Source: International Journal of Immunogenetics - December 1, 2008 Category: Genetics & Stem Cells Authors: Ö. Ates, L. Dalyan, B. Müsellim, G. Hatemi, H. Türker, G. Öngen, V. Hamuryudan, A. Topal-Sarıkaya Source Type: journals
MCP-1 and CCR2 gene polymorphisms in Czech patients with allergic disorders
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Several lines of evidence suggest that chemokines play an important role in asthma and allergy. We analysed polymorphisms at [ndash]2518A/G and [ndash]2076A/T of MCP-1 and V64I of CCR2 gene in healthy subjects (n = 306) and allergic patients (n = 332). Allele and genotype frequencies did not differ significantly between groups. Nevertheless, MCP-1 variants were associated with allergen sensitization. The results suggest that MCP-1, but not CCR2 gene variants, may participate in the pathogenesis of allergic phenotypes at least in the Caucasian population. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - December 1, 2008 Category: Genetics & Stem Cells Authors: L. Izakovicova Holla, F. Mrazek, M. Petrek Source Type: journals
Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus
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In conclusion, the ERCC2/XPD functional polymorphisms analysed in this study showed no association in genetic susceptibility to SLE. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - December 1, 2008 Category: Genetics & Stem Cells Authors: L. Wan, Y. J. Lin, J. J. Sheu, C. M. Huang, Y. Tsai, C. H. Tsai, W. Wong, F. J. Tsai Source Type: journals
