International Journal of Immunogenetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

HLA‐A, B and DRB1 genetic heterogeneity in Quebec
Summary Recent studies have shown that under specific conditions such as high sample sizes and Hardy–Weinberg equilibrium, bone marrow donor registry data can be used to describe HLA molecular variation across a specific geographic area, thus providing excellent data sets to infer human migrations history. The province of Quebec is known to have experienced a complex history of settlement, characterized by multiple migrations and demographic changes. We thus analysed the data of more than 13 000 unrelated individuals acting as volunteer bone marrow donors who were molecularly typed for HLA‐A, B and DRB1 polymorphisms ...
Source: International Journal of Immunogenetics - January 31, 2015 Category: Genetics & Stem Cells Authors: S. Buhler, J. M. Nunes, A. Sanchez‐Mazas, L. Richard Tags: Original Article Source Type: research

Polymorphisms of the NOS3 gene in Tunisian patients with Behçet's disease
Summary Behçet's disease (BD) is a multisystem inflammatory disease characterized by recurrent orogenital ulceration, ocular inflammation and skin lesions. Reduced plasma nitric oxide (NO) levels in patients with BD have been implicated in the development of the endothelial abnormalities and thrombotic complications occurring in these patients. Polymorphisms in the endothelial nitric oxide synthase gene (NOS3) have been inconsistently associated with BD. This inconsistency may derive from population stratification secondary to ethnic diversity, and consideration limited to only one rather than combinations of polymorphism...
Source: International Journal of Immunogenetics - January 30, 2015 Category: Genetics & Stem Cells Authors: A. Kallel, M. H. Sbaï, M. H. Houman, Y. Sediri, D. Ouertani, M. Smiti Khanfir, I. Ben Ghorbel, R. Jemaa, N. Kaabachi Tags: Original Article Source Type: research

Monocyte chemoattractant protein‐1 gene polymorphism and its serum level have an impact on anthropometric and biochemical risk factors of metabolic syndrome in Indian population
In conclusions, the MCP‐1 2518A>G (rs 1024611) polymorphism has significant impact on risk of MetS, and MCP‐1 level correlates with anthropometric and biochemical risk factors of MetS. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - January 30, 2015 Category: Genetics & Stem Cells Authors: A. K. Madeshiya, S. Singh, S. Dwivedi, K. S. Saini, R. Singh, S. Tiwari, R. Konwar, A. Ghatak Tags: Original Article Source Type: research

A Tribute to Professor Kenneth Ian Welsh 17 August 1944–12 August 2014
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - January 13, 2015 Category: Genetics & Stem Cells Authors: Craig J. Taylor, Derek Middleton, Sara Marshall Tags: Obituary Source Type: research

A Tribute to Professor Kenneth Ian Welsh 17 August 1944–24 August 2014
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - January 13, 2015 Category: Genetics & Stem Cells Authors: Craig J. Taylor, Derek Middleton, Sara Marshall Tags: Obituary Source Type: research

A group‐specific sequence‐based typing approach for HLA‐DQA1
Summary An HLA‐DQA1 sequence‐based typing method reliant upon group‐specific amplification to achieve an unambiguous second‐field DQA1 typing assignment is presented. Method validation, using 51 reference DNA samples covering 21 different DQA1 alleles, showed 100% concordance with the reference types. This typing strategy has several important uses including identifying DQA1 mismatches in kidney donor/recipient pairs to inform patient DQ antibody assignments. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - December 24, 2014 Category: Genetics & Stem Cells Authors: A. J. Lemin, J. Johnson, C. Darke Tags: Short Communication Source Type: research

TLR8 gene polymorphism and association in bacterial load in southern Punjab of Pakistan: an association study with pulmonary tuberculosis
Summary Only 5–10% of people infected with Mycobacterium tuberculosis develop active tuberculosis which suggests a role of genetic variation in host immunity. Genetic variants in TLRs are potential indicator for host susceptibility and outcome of several diseases. We explored the association of nonsynonymous genetic variants (Met1Val) with Toll‐like receptor 8 in Pakistani population. Genotypic and allelic distribution of TLR8 polymorphism (rs3764880) in patients with TB and healthy donors from different areas of southern Punjab, Pakistan, was determined. Results provide that our population is highly influenced by TLR8...
Source: International Journal of Immunogenetics - December 1, 2014 Category: Genetics & Stem Cells Authors: M. Bukhari, M. A. Aslam, A. Khan, Q. Iram, A. Akbar, A. G. Naz, S. Ahmad, M. M. Ahmad, U. A. Ashfaq, H. Aziz, M. Ali Tags: Original Article Source Type: research

The Pekin duck programmed death‐ligand 1: cDNA cloning, genomic structure, molecular characterization and mRNA expression analysis
Summary 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 78% and 42% with chicken and human PD‐L1, respectively. Mapping of the duPD‐L1 cDNA with duck genomic sequences revealed an exonic structure of its coding sequence similar to those of other vertebrates but lacked a noncoding exon 1. Homology modelling of the duPD‐L1 extracellular dom...
Source: International Journal of Immunogenetics - December 1, 2014 Category: Genetics & Stem Cells Authors: Q. Yao, K. P. Fischer, D. L. Tyrrell, K. S. Gutfreund Tags: Original Article Source Type: research

Increased expression of human leucocyte antigen class I free heavy chains on monocytes of patients with spondyloarthritis and cells transfected with HLA‐B27
Summary Human leucocyte antigen (HLA)‐B27 expression is correlated with spondyloarthritis (SpA), but its role in disease pathogenesis remains unclear. The aim of the study was to determine whether HLA‐B27 free heavy chain (FHC) contributes to SpA pathogenesis. Flow cytometry was used to analyse the FHC expression on CD3+ and CD14+ cells in the peripheral blood (PB) and synovial fluid (SF) from SpA patients, healthy controls, and rheumatoid arthritis (RA) patients. Human monocytic U937 cell lines stably expressing enhanced green fluorescence protein (EGFP)/HLA‐B27, EGFP/HLA‐A2 or EGFP alone were created to further i...
Source: International Journal of Immunogenetics - December 1, 2014 Category: Genetics & Stem Cells Authors: Jin Ding, Yuan Feng, Zhao Hui Zheng, Xue Yi Li, Zhen Biao Wu, Ping Zhu Tags: Original Article Source Type: research

IL5RA polymorphisms, smoking and eczema in Japanese women: the Kyushu Okinawa Maternal and Child Health Study
Summary The present case–control study examined the relationship between IL5RA SNPs and eczema in young adult Japanese women. Cases and control subjects were selected from pregnant women who participated in the baseline survey of the Kyushu Okinawa Maternal and Child Health Study, which is an ongoing prebirth cohort study. Cases comprised 188 women with eczema in the previous 12 months as defined according to the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC), regardless of the presence of a doctor's diagnosis of atopic eczema. Control subjects comprised 1130 women without eczema as def...
Source: International Journal of Immunogenetics - December 1, 2014 Category: Genetics & Stem Cells Authors: Y. Miyake, K. Tanaka, M. Arakawa Tags: Original Article Source Type: research

A novel intronic splice site deletion of the IL‐2 receptor common gamma chain results in expression of a dysfunctional protein and T‐cell‐positive X‐linked Severe combined immunodeficiency
We report a boy who presented at 12 months of age with Pneumocystis jiroveci pneumonia and a family history consistent with X‐linked recessive inheritance. He had a normal lymphocyte count including the presence of T cells and a broad T‐cell‐receptor diversity, as well as normal surface expression of the common gamma chain (CD132) protein. He however had profound hypogammaglobulinaemia, and IL‐2‐induced STAT5 phosphorylation was absent. Sequencing of IL‐2RG demonstrated a 12‐base pair intronic deletion close to the canonical splice site of exon 5, which resulted in a variety of truncated IL2RG mRNA species. ...
Source: International Journal of Immunogenetics - November 29, 2014 Category: Genetics & Stem Cells Authors: P. E. A. Gray, G. J. Logan, I. E. Alexander, S. Poulton, T. Roscioli, J. Ziegler Tags: Short Communication Source Type: research

Frequency distribution of autoimmunity associated FCGR3B gene copy number in Indian population
Summary Amongst several human genome variations, copy number variations (CNVs) are considered as an important source of variability contributing to susceptibility to wide range of diseases. Although CNV is scattered for genes throughout the human genome, several of autoimmunity related genes have CN variation and therefore play an important role in susceptibility to autoimmune diseases. The association of the Fc gamma receptor 3B (FCGR3B) gene copy number in autoimmunity is well characterized in various populations studied. The Fc gamma receptor is a low affinity, glycosylphosphatidylinositol‐linked receptor for IgG mole...
Source: International Journal of Immunogenetics - November 28, 2014 Category: Genetics & Stem Cells Authors: S. H. Almal, Harish Padh Tags: Original Article Source Type: research

Association of interleukin‐10 promoter region polymorphisms with risk factors of Atherosclerosis
In conclusion, the promoter region polymorphisms of IL‐10 gene associate with carotid IMT and plaque. Further studies with larger samples are needed to provide stronger evidence to justify anti‐atheromatous properties of IL‐10. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - November 25, 2014 Category: Genetics & Stem Cells Authors: G. I. Yu, S.‐E. Jun, H.‐C. Cho, K. O. Park, J.‐H. Chung, D. H. Shin, I. S. Chung Tags: Original Article Source Type: research

Frequencies of allele groups HLA‐A, HLA‐B and HLA‐DRB1 in a population from the northwestern region of São Paulo State, Brazil
Summary The aim of this study was to estimate the HLA‐A, HLA‐B and HLA‐DRB1 allele groups frequencies in a population of 1559 volunteer bone marrow donors from the northwestern region of São Paulo State grouped according to ethnicity. An additional objective was to compare the allele frequencies of the current study with data published for other Brazilian populations. The allele groups were characterized by the PCR‐rSSO method using Luminex® technology. Twenty HLA‐A, 32 HLA‐B and 13 HLA‐DRB1 allele groups were identified. The most common allele groups in European descent and mixed African and European desce...
Source: International Journal of Immunogenetics - November 22, 2014 Category: Genetics & Stem Cells Authors: C. M. Ayo, A. V. Silveira Camargo, D. H. Xavier, M. F. Batista, O. A. Carneiro, C. C. Brandão de Mattos, O. Ricci, L. C. Mattos Tags: Original Article Source Type: research

Corrigendum
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - November 15, 2014 Category: Genetics & Stem Cells Tags: Corrigendum Source Type: research