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What has GWAS done for HLA and disease associations?
Summary The major histocompatibility complex (MHC) is located in chromosome 6p21 and contains crucial regulators of immune response, including human leucocyte antigen (HLA) genes, alongside other genes with nonimmunological roles. More recently, a repertoire of noncoding RNA genes, including expressed pseudogenes, has also been identified. The MHC is the most gene dense and most polymorphic part of the human genome. The region exhibits haplotype‐specific linkage disequilibrium patterns, contains the strongest cis‐ and trans‐eQTLs/meQTLs in the genome and is known as a hot spot for disease associations. Another layer ...
Source: International Journal of Immunogenetics - September 6, 2017 Category: Genetics & Stem Cells Authors: A. E. Kennedy, U. Ozbek, M. T. Dorak Tags: Review Source Type: research

Human leucocyte antigens class II allele and haplotype association with Type 1 Diabetes in Madeira Island (Portugal)
This study confirms for Madeira Island (Portugal) population the Type 1 Diabetes (T1D) susceptible and protective Human leucocyte antigens (HLA) markers previously reported in other populations and adds some local specificities. Among the strongest T1D HLA associations, stands out, as susceptible, the alleles DRB1*04:05 (OR = 7.3), DQB1*03:02 (OR = 6.1) and DQA1*03:03 (OR = 4.5), as well as the haplotypes DRB1*04:05‐DQA1*03:03‐DQB1*03:02 (OR = 100.9) and DRB1*04:04‐DQA1*03:01‐DQB1*03:02 (OR = 22.1), and DQB1*06:02 (OR = 0.07) and DRB1*15:01‐DQA1*01:02‐DQB1*06:02 (OR = 0.04) as protective. HLA‐DQ...
Source: International Journal of Immunogenetics - August 1, 2017 Category: Genetics & Stem Cells Authors: H. Sp ínola, A. Lemos, A. R. Couto, B. Parreira, M. Soares, I. Dutra, J. Bruges‐Armas, A. Brehm, S. Abreu Tags: ORIGINAL ARTICLE Source Type: research

‐318C/T polymorphism of the CTLA‐4 gene is an independent risk factor for RBC alloimmunization among sickle cell disease patients
In conclusion, the polymorphism ‐318C/T of CTLA‐4 gene is associated with RBC alloimmunization among SCD patients. This highlights the role played by CTLA‐4 on post‐transfusion alloantibody development. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - August 1, 2017 Category: Genetics & Stem Cells Authors: V. B. Oliveira, M. R. Dezan, F. C. A. Gomes, S. F. Menosi Gualandro, J. E. Krieger, A. C. Pereira, J. D. Marsiglia, J. E. Levi, V. Rocha, A. Mendrone ‐Junior, E. C. Sabino, C. L. Dinardo Tags: ORIGINAL ARTICLE Source Type: research

Nomenclature for factors of the HLA system, update April 2017
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - July 25, 2017 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: NOMENCLATURE Source Type: research

Nomenclature for factors of the HLA system, update June 2017
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - July 25, 2017 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: NOMENCLATURE Source Type: research

Nomenclature for factors of the HLA system, update May 2017
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - July 25, 2017 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: NOMENCLATURE Source Type: research

Epitopes and motifs of the HLA ‐B*14 allele family products and related HLA‐B14 cross‐reactive specificities
Summary The split specificities of HLA‐B14 (B64, B65) are assigned to the B*14:01 (B64) and B*14:02 (B65) products only. Of the further 50 B*14 expressed products, only B*14:03 and B*14:06 are officially designated as HLA‐B14. The B*14:08 product differs from B64 by a single amino acid substitution of W97R, while the B*14:53 specificity (which is a “short” B14 and neither B64 nor B65) differs from B64 by three residues (W97S, Y113H and F116Y). Comprehensive testing of B*14:08:01 cells (using 49 alloantisera with B64 or B64, B65 specificities, and five monoclonal antibodies with B65 or B64, B65 activity) showed that...
Source: International Journal of Immunogenetics - July 10, 2017 Category: Genetics & Stem Cells Authors: J. Street, C. Darke Tags: ORIGINAL ARTICLE Source Type: research

SPINK5 is associated with early ‐onset and CHI3L1 with late‐onset atopic dermatitis
Summary We have recently showed that filaggrin (FLG) mutations are associated only with early‐onset of AD, but not with late‐onset of AD. Consequently, other susceptibility genes should receive attention, especially in patients with late‐onset of AD. Our aim was to assess the associations between development of AD and the polymorphisms rs2303067 in SPINK5 and rs490928 in CHI3L1. A study population of 241 AD patients and 164 healthy controls was genotyped for two polymorphisms (rs2303067 in SPINK5 and rs490928 in CHI3L1). Rs2303067 in SPINK5 was significantly associated with early‐onset AD (≤8 years: p = .003; ...
Source: International Journal of Immunogenetics - July 6, 2017 Category: Genetics & Stem Cells Authors: K. De žman, P. Korošec, H. Rupnik, M. Rijavec Tags: ORIGINAL ARTICLE Source Type: research

Publication Ethos in the Immunogenetics community
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - July 2, 2017 Category: Genetics & Stem Cells Authors: D. Middleton, A. B Hahn, S. G. E. Marsh Tags: EDITORIAL Source Type: research

The HLA ‐C*05 family allele – C*05:142
Summary The sequencing of exons 2–7 of a likely new HLA‐C*05 allele identified the second example of HLA‐C*05:142, in a male UK European, within a few months of the first example being found in Germany. C*05:142 differs from C*05:01:01:01 by a single base (395G>C) in exon 3 resulting in an amino acid substitution of R108P. Comprehensive serological HLA‐Cw5 typing, using 19 antisera, indicated that C*05:142 encodes a “normal” Cw5 specificity. Failure to identify the involvement of position 108 in published HLA‐C epitopes supported this assertion. The likely HLA class I C*05:142‐bearing haplotype is A*02:0...
Source: International Journal of Immunogenetics - June 1, 2017 Category: Genetics & Stem Cells Authors: J. Rowlands, T. Climer, C. Harvey, L. Williams, C. Darke Tags: SHORT COMMUNICATION Source Type: research

Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease
This report addresses additional data regarding the polymorphic variants associated with autoimmune disease, one of the most common complications in TS. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - June 1, 2017 Category: Genetics & Stem Cells Authors: E. Villanueva ‐Ortega, B. Ahedo, M. A. Fonseca‐Sánchez, J. Pérez‐Durán, N. Garibay‐Nieto, M. T. Macías‐Galavíz, Y. Trujillo‐Cabrera, E. García‐Latorre, G. Queipo Tags: ORIGINAL ARTICLE Source Type: research

HLA genotyping using the Illumina HLA TruSight next ‐generation sequencing kits: A comparison
Summary 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. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 29, 2017 Category: Genetics & Stem Cells Authors: T. Profaizer, E. L ázár‐Molnár, A. Pole, J. C. Delgado, A. Kumánovics Tags: SHORT COMMUNICATION Source Type: research

Frequency distribution of six cytokine gene polymorphisms in North ‐ and South‐Italy
Summary Allelic and genotype frequencies of four cytokine genes were obtained from 738 subjects from North‐ and South‐Italy. Populations were in Hardy–Weinberg equilibrium for all genes but significantly differed in the frequency of all SNPs and three haplotypes. In the MDS graph, they were plotted in separate positions close to Europeans and an Ivorian population, respectively. (Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 26, 2017 Category: Genetics & Stem Cells Authors: A. Santovito, C. Gendusa, A. Matini, F. Ferraro, I. Musso, M. Costanzo, A. Delclos, P. Cervella Tags: SHORT COMMUNICATION Source Type: research

Nomenclature for factors of the HLA system, update February 2017*
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 17, 2017 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: NOMENCLATURE Source Type: research

Nomenclature for factors of the HLA system, updated on January 2017
(Source: International Journal of Immunogenetics)
Source: International Journal of Immunogenetics - May 15, 2017 Category: Genetics & Stem Cells Authors: S. G. E. Marsh Tags: NOMENCLATURE Source Type: research