Are IL2 promoter polymorphisms associated with MS in Iranian patients? – We Do Not Know
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - November 15, 2014 Category: Genetics & Stem Cells Authors: M. R. Jabalameli, H. Zahednasab Tags: Letter to the Editor Source Type: research

Pro‐ and anti‐inflammatory cytokine gene single‐nucleotide polymorphisms in inflammatory bowel disease
Summary Anti‐inflammatory cytokines have an important role in disease, tumour and transplant processes. Alterations in the regulation of several cytokines have been implicated in a variety of inflammatory disorders, including IBD (inflammatory bowel disease) [Crohn′s disease (CD) and ulcerative colitis (UC)]. Cytokine polymorphisms are also known to affect the level of gene expression. Thus, the aim of this study was to determine the relationship between cytokine polymorphisms and the IBD pathologies in a Spanish population. Polymorphisms analysis was performed using PCR‐SSOP using a microbeads luminex assay. The fol...
Source: International Journal of Immunogenetics - October 31, 2014 Category: Genetics & Stem Cells Authors: R. López‐Hernández, M. Valdés, J. A. Campillo, P. Martínez‐García, H. Salama, J. M. Bolarin, H. Martínez, M. R. Moya‐Quiles, A. Minguela, A. Sánchez‐Torres, C. Botella, G. Salgado, M. Miras, F. Carballo, M. Muro Tags: Original Article Source Type: research

Nomenclature for factors of the HLA system, update August 2014
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 31, 2014 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: Nomenclature Source Type: research

Nomenclature for factors of the HLA system, update September 2014
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 31, 2014 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: Nomenclature Source Type: research

HLA‐DRA is associated with Parkinson's disease in Iranian population
Summary The rs3129882, a noncoding variant in HLA‐DR, was found to be associated with Parkinson's disease (PD) using several genome‐wide association studies. The aim of this replication study was to explore the relationship between this variant and PD in Iranian population. Genomic DNA was extracted from peripheral blood samples, and the rs3129882 SNP was genotyped using a PCR‐RFLP method in 520 PD patients and 520 healthy Iranian controls. Significant differences were found in allele frequencies between patients and controls (χ2 = 4.64, P = 0.031). Under additive and dominant models, the association of the SNP w...
Source: International Journal of Immunogenetics - October 15, 2014 Category: Genetics & Stem Cells Authors: J. Jamshidi, A. Movafagh, B. Emamalizadeh, A. Zare Bidoki, A. Manafi, S. Ghasemi Firouzabadi, G.‐A. Shahidi, S. Kazeminasab, P. Petramfar, A. Fazeli, M. Motallebi, S. A. Mortazavi‐Tabatabaei, A. Kowsari, Z. Jafarian, H. Darvish Tags: Original Article Source Type: research

Killer immunoglobulin‐like receptor diversity in Malay subethnic groups of Peninsular Malaysia
In this study, we investigate KIR gene content in 120 unrelated individuals from the four Malay subethnic groups (Kelantan, Jawa, Banjar and Pattani Malays). Genotyping using commercial polymerase chain reaction–sequence‐specific primer (PCR‐SSP) kits revealed a total of 34 different KIR genotypes; 17 for Kelantan, 15 for Banjar, 14 for Jawa and 13 for Pattani Malays. Two new variants observed in Banjar Malays have not previously been reported. Genotype AA and haplotype A were the most common in Jawa (0.47 and 0.65, respectively), Banjar (0.37 and 0.52, respectively) and Pattani (0.40 and 0.60, respectively) Malays. ...
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: H. Z. A. NurWaliyuddin, H. A. Edinur, M. N. Norazmi, P. Sundararajulu, G. K. Chambers, Z. Zafarina Tags: Original Article Source Type: research

Polymorphism in IFI16 affects CD4+ T‐cell counts in HIV‐1 infection
Summary Interferon‐γ‐inducible protein 16 (IFI16) plays a pivotal role in the death of bystander CD4+ T‐cells. Here, we demonstrate that SNP rs1417806 in IFI16 is associated with CD4+ T‐cell counts at set point and HIV‐1 disease progression, indicating that IFI16 affects HIV‐1 pathogenesis especially during the early phase of infection. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: T. Booiman, N. A. Kootstra Tags: Short Communication Source Type: research

Nomenclature for factors of the HLA system, update July 2014
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: Nomenclature Source Type: research

The influence of interleukin‐7 receptor α‐chain haplotypes on outcome after allogeneic hematopoietic cell transplantation
Summary We investigated the influence of IL‐7 receptor α‐chain (IL‐7Rα) gene haplotypes in donors on the outcome of haematopoietic cell transplantation (HCT). Unlike the association between single donor SNPs and HCT outcome found previously, only trends towards association were found here, due to ‘dilution’ of SNPs into haplotypes. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: B. Broux, Z. Shamim, T. Wang, S. Spellman, M. Haagenson, P. Stinissen, L. P. Ryder, K. Müller, N. Hellings Tags: Short Communication Source Type: research

Next generation sequencing: considering the ethics
Summary This review article discusses some of the ethical challenges posed by next generation sequencing (NGS), both in the clinical and research setting. Concerns such as how to deal with unexpected results apply equally to conventional techniques. However, these incidental findings are far more likely with the use of NGS and whole genome sequencing. Whilst the lines of responsibility are better defined in the clinical environment, disclosure of such findings in the research setting is less clear. Recruitment of volunteers for public biobank research, in particular, also raises questions regarding consent and confidential...
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: S. Davey Tags: Review Source Type: research

Prevalence of HLA‐DQA1 alleles and haplotypes in blood donors resident in Wales
Summary Two hundred and fifty‐four normal blood donors, from a largely UK European population, were sequence‐based typed for HLA‐A, HLA‐B, HLA‐C, HLA‐DRB1, HLA‐DQA1 and HLA‐DQB1. The fit to Hardy–Weinberg expectations was good for all loci (all P values >0.5). Fifteen DQA1 alleles were identified to the second field. DQA1 carriage, allele and DQA1–DQB1 and DRB1–DQA1–DQB1 haplotype frequencies, linkage disequilibria and related values are presented. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: A. J. Lemin, C. Darke Tags: Short Communication Source Type: research

Role of TLR4 C>1196T (Thr399Ile) and TLR4 A>896G (Asp299Gly) polymorphisms in a North Indian population with asthma: a case‐control study
Summary 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 shown to be involved in the pathogenesis of asthma. The role of TLR4 gene polymorphisms in asthma was detected in a total of 964 individuals, including 483 healthy controls and 481 asthma patients from a North Indian population. The genotyping was carried out using polymerase chain reaction–re...
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: S. Sinha, J. Singh, S. K. Jindal, N. Birbian, N. Singla Tags: Original Article Source Type: research

Interleukin‐4 single nucleotide polymorphisms in juvenile systemic lupus erythematosus
Summary Juvenile systemic lupus erythematosus (JSLE) is a chronic, recurrent multisystem inflammatory disease, caused by a combination of environmental events and genetic risk factors. As cytokines, including interleukin‐4 (IL‐4), seem to have a role in the pathogenesis of JSLE, the investigation was performed to evaluate the associations of specific single nucleotide polymorphisms (SNPs) of IL‐4 and IL‐4RA genes in a case–control study. Fifty‐nine patients with JSLE were recruited in this study as patients' group and compared with 140 healthy volunteers. Genotyping was performed for IL‐4 gene at positions ...
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: M. Mahmoudi, F. Tahghighi, V. Ziaee, S. Harsini, A. Rezaei, S. Soltani, M. Sadr, M. H. Moradinejad, Y. Aghighi, N. Rezaei Tags: Original Article Source Type: research

Identification and characterization of a novel HLA‐A allele, HLA‐A*68:105, by genomic sequencing
Summary A novel HLA‐A allele, HLA‐A*68:105, was detected by sequence‐based typing (SBT) in an Italian bone marrow donor. It differs from HLA‐A*68:01:02 at five nucleotides, three intronic, nt 699 T‐>G (intron 2), nt 705 T‐>C (intron 2) and nt 2770 G‐>A (intron 7), and two located in exon 3, at positions 726 A‐G (codon 94 Ile‐>Val) and 733 T‐G (codon 97 Arg‐>Met), respectively. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - October 1, 2014 Category: Genetics & Stem Cells Authors: M. Curcio, S. Presciuttini, R. Sciarrino, S. Fornaciari, M. L. Mariotti, F. Scatena Tags: Short Communication Source Type: research

Polymorphisms in the TNF‐α, TNFR1 gene and risk of rheumatoid arthritis in Chinese Han population
This study identifies a potentially important role for TNF‐α rs1800629 polymorphisms in the susceptibility to RA.However, further studies in larger cohorts are required. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - September 29, 2014 Category: Genetics & Stem Cells Authors: F. Li, J. Gao, J. Sokolove, J. Xu, J. Zheng, K. Zhu, Z. Pan Tags: Original Article Source Type: research