Association analysis of −416 G>C polymorphism of T‐cell immunoglobulin and mucin domain‐1 gene with asthma in Iran
Summary TIM (T‐cell immunoglobulin (Ig) and mucin domain)‐1, one of the members of TIM family, expresses on Th2 cells and promotes the production of Th2 signature cytokines. This can increase a series of responses in these cells which could be one of the causes of asthma or asthma‐related phenotypes. The aim of this study was to investigate whether a TIM‐1 promoter single nucleotide polymorphism (SNP), −416 G>C, is associated with asthma in Iranian population. In this case–control study, existence of the −416 G>C polymorphism was assessed using polymerase chain reaction (PCR) and restriction fragment ...
Source: International Journal of Immunogenetics - June 1, 2015 Category: Genetics & Stem Cells Authors: H. Shirzade, R. Meshkat, M. Ganjalikhani‐Hakemi, A. Mosayebian, R. Ghasemi, F. Deress, S. Parchami barjui, M. Sadri, R. Salehi Tags: Original Article Source Type: research

Non‐HLA genomics: does it have a role in predicting haematopoietic stem cell transplantation outcome?
Summary Haematopoietic stem cell transplantation (HSCT) remains the only cure for many haematological neoplasms; however, the mortality rate remains high, at around 30–80%. Complications after HSCT include relapse, graft‐versus‐host disease, graft rejection and infection. High‐resolution HLA matching has improved survival in HSCT over recent years; however, GVHD still remains a serious complication. Single nucleotide polymorphisms (SNPS) within genes that are involved with an individual's capability to mount an immune response to infectious pathogens, residual leukaemia, alloantigens or genes involved in drug metab...
Source: International Journal of Immunogenetics - May 23, 2015 Category: Genetics & Stem Cells Authors: A. M. Dickinson, J. Norden Tags: Review Source Type: research

Identification of a novel MICB allele, MICB*030, by cloning and sequencing
Summary 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 adenine substitution at nucleotide position 50 in exon 3, leading to amino acid change from serine to arginine at codon 102 of the mature MICB molecule. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 20, 2015 Category: Genetics & Stem Cells Authors: W. Y. Wang, F. Wang, W. Tian Tags: Short Communication Source Type: research

HLA‐B*38:55Q: a new alternatively expressed allele identified in a three‐generation Italian family
Summary The new allelic variant HLA‐B*38:55Q differs from the closest related B*38:01:01 by one nucleotide substitution at position 373 in exon 3 (TGC>CGC). This results in a difference of one amino acid at residue 101 of the HLA‐B heavy chain, from a neutral‐polar Cys to a basic‐polar Arg, thus impairing disulphide bridge formation in the alpha‐2 domain. This alteration of the secondary structure probably affects the maturation of the heavy chain and the level of surface expression, making the HLA‐B*38:55Q undetectable by standard serological typing. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 15, 2015 Category: Genetics & Stem Cells Authors: C. Fusco, R. Azzarone, R. Penta, A. Canossi, B. Di Iulio, M. Toriello, L. Auriemma, M. Pagano, V. Poggi, F. Papola Tags: Short Communication Source Type: research

Nomenclature for factors of the HLA system, update January 2015
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - April 1, 2015 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: Nomenclature Source Type: research

Nomenclature for factors of the HLA system, update February 2015
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - April 1, 2015 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: Nomenclature Source Type: research

Nomenclature for factors of the HLA system, update March 2015
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - April 1, 2015 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: Nomenclature Source Type: research

TIM‐1 rs41297579 G>A (−1454) and TIM‐4 rs7700944 gene polymorphisms as possible risk factor for rheumatoid arthritis: relation to activity and severity
This study was aimed to evaluate the impact of both TIM‐1 rs41297579 G>A (−1454) and TIM‐4 rs7700944 polymorphisms on susceptibility to rheumatoid arthritis (RA) in a cohort of Egyptian population and to evaluate for the first time their relation to activity, severity, disease‐related disability and erosion. TIM‐1 rs41297579 G>A (−1454) and TIM‐4 rs7700944 gene polymorphisms were typed by RFLP for 128 patients with RA and 125 healthy controls. The A allele, A‐containing genotypes (GA and AA) of the TIM‐4 and GA haplotype were present with significant higher frequency in patients with RA than healt...
Source: International Journal of Immunogenetics - April 1, 2015 Category: Genetics & Stem Cells Authors: Y. M. Mosaad, S. R. El‐bassiony, A. E. El‐Ghaweet, M. M. Elhindawy, B. S. EL‐Deek, W. A. Sultan Tags: Original Article Source Type: research

Age‐ and gender‐specific effects on VDR gene polymorphisms and risk of the development of multiple sclerosis in Tunisians: a preliminary study
In this report, we investigated the association between two single nucleotide polymorphisms (SNPs) TaqI and ApaI of VDR gene and risk development of MS. TaqI and ApaI SNPs were detected by PCR‐RFLP from the DNA of 60 Tunisian patients with MS and 114 healthy controls. Our results show a significant difference of the allelic frequency distribution between the case and control groups for TaqI SNP (P = 0.01), but genotype frequencies were not significantly different (P = 0.07 and 0.23). When adjusting frequency distribution of different alleles and genotypes by age, we found that the difference between the T allele freq...
Source: International Journal of Immunogenetics - April 1, 2015 Category: Genetics & Stem Cells Authors: W. Ben‐Selma, N. Ben‐Fredj, S. Chebel, M. Frih‐Ayed, M. Aouni, J. Boukadida Tags: Original Article Source Type: research

Multifactor‐dimensionality reduction reveals interaction of important gene variants involved in allergy
In conclusion, a five‐locus interaction exists among IL4 ‐590C>T, FCER1B E237G, CD14 ‐159C>T, IL4RA Q551R and ADRB2 R16G in Filipino cases of atopic allergy. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - April 1, 2015 Category: Genetics & Stem Cells Authors: R. M. Guia, M. D. J. Echavez, E. L. C. Gaw, M. R. R. Gomez, K. A. J. Lopez, R. C. M. Mendoza, J. M. C. Rapsing, D. P. Retreta, C. M. B. Tubog, M. H. Ventolero, C. L. Yao, J. D. A. Ramos Tags: Original Article Source Type: research

Association of single nucleotide polymorphisms in MPO and COX genes with oral lichen planus
In this study, we first observed significant association with MPO polymorphism and OLP risk in different gender groups in Chinese, suggesting MPO polymorphism is a gender‐specific risk factor of OLP probably by influencing sex hormone‐sensitive elements to regulate inflammatory gene expression networks, and we further revealed that oxidative stress was actually involved in the pathogenesis of this disease. Moreover, these findings inspire us some constructive solutions to the treatment of this disease. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - March 30, 2015 Category: Genetics & Stem Cells Authors: D. Wu, X. Chen, C. Dong, Q. Liu, Y. Yang, C. He, J. Wang, M. Sun, Y. Wu Tags: Original Article Source Type: research

Association between FokI, ApaI and TaqI RFLP polymorphisms in VDR gene and Hashimoto's thyroiditis: preliminary data from female patients in Serbia
Summary 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 shown association between vitamin D receptor (VDR) gene polymorphisms and various autoimmune diseases, including HT. The study included 44 female patients (mean age ± standard deviation 38 ± 5.4) with Hashimoto's thyroiditis and 32 healthy age‐matched, sex‐matched and geographically matched con...
Source: International Journal of Immunogenetics - March 29, 2015 Category: Genetics & Stem Cells Authors: J. Djurovic, O. Stojkovic, O. Ozdemir, F. Silan, C. Akurut, J. Todorovic, K. Savic, G. Stamenkovic Tags: Original Article Source Type: research

ERAP1 variants are associated with ankylosing spondylitis in East Asian population: a new Chinese case–control study and meta‐analysis of published series
Summary Endoplasmic reticulum aminopeptidase 1 (ERAP1) has been confirmed to be associated with ankylosing spondylitis (AS) in Caucasian. However, whether they are associated with AS in East Asian population remains unidentified. We investigated this relationship by a new Chinese case–control study and a meta‐analysis of published series. 368 cases and 460 controls were recruited in the Chinese case–control study. Genotyping was completed using the chip‐based matrix‐assisted laser desorption ionization time‐of‐flight mass spectrometry. Allelic associations were analysed using contingency tables. In the meta...
Source: International Journal of Immunogenetics - March 27, 2015 Category: Genetics & Stem Cells Authors: C. Chen, X. Zhang Tags: Original Article Source Type: research

Two novel 5′ promoter sequences of the MHC class I‐related chain A gene
In this study, we have characterized two novel polymorphism of the 5′ promoter sequence of MICA gene, MICA‐P13 and MICA‐P14, by sequence‐based typing and cloning. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - March 26, 2015 Category: Genetics & Stem Cells Authors: R. Laza‐Briviesca, A. Saudemont, J. A. Madrigal, S. T. Cox Tags: Short Communication Source Type: research

Identification of reference microRNAs for quantitative expression analysis in porcine peripheral blood mononuclear cells treated with polyinosinic–polycytidylic acid
Summary Peripheral blood mononuclear cells (PBMCs) are clinically important cells. Detection of microRNAs (miRNAs) expression in PBMCs can be useful for miRNA biomarker discovery for various diseases. Quantitative real‐time PCR (qRT‐PCR) has become an important method used for measuring miRNAs expression. However, the reliability of qRT‐PCR data critically depends on proper selection of reference genes. Here, we performed qRT‐PCR to quantify the expression levels of nine miRNAs (Ssc‐miR‐16, Hsa‐miR‐25, Ssc‐miR‐34a, Hsa‐miR‐93, Bta‐miR‐92b, Ssc‐miR‐103, Ssc‐miR‐106a, Ssc‐miR‐128 and S...
Source: International Journal of Immunogenetics - March 26, 2015 Category: Genetics & Stem Cells Authors: H. Wang, J. Wang, S. Sun, Y. Wang, J. Guo, C. Ning, K. Yang, J.‐ F. Liu Tags: Original Article Source Type: research