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International Journal of Immunogenetics

Valéria de Lima Kaminski, Joel Henrique Ellwanger, Valeria Sandrim, Alessandra Pontillo, José Artur Bogo Chies
Pre-eclampsia (PE) is a hypertensive disorder that affects an important number of pregnant women worldwide. The exact causes of PE remain poorly understood. However, inflammation and deregulation of innate immune cells, such as natural killer (NK) cells, contribute to PE pathogenesis. Besides, the mother's genetic background also impacts on PE susceptibility. Thus, genetic variants that potentially modify the behaviour of inflammatory cells may help us to understand the causes of PE. Variants of genes encoding NKG2C (expressed in NK cells) and C-C chemokine receptor type 5 (CCR5) (expressed mainly in leucocytes) are important targets in the study of gestational disorders...
February 20, 2019: International Journal of Immunogenetics
Judit Bajor, Zsolt Szakács, Márk Juhász, Mária Papp, Dorottya Kocsis, Éva Szegedi, Ildikó Földi, Nelli Farkas, Péter Hegyi, Áron Vincze
BACKGROUND AND PURPOSE: Magnitude of gluten-specific T-cell responses in coeliac disease (CD) might be dependent on HLA-DQ2 gene dose. We aimed to investigate the effects of HLA-DQB1*02 allele dose on clinical outcomes. METHODS: We reviewed the charts of all coeliac patients attending to three Hungarian university clinics after 1997 and included those patients, who (a) were diagnosed with CD, (b) underwent high-resolution HLA typing and (c) were ≥18 years at the time of data collection...
February 19, 2019: International Journal of Immunogenetics
Maria Fernanda Romo-García, Hilda Susana Nava-Ramírez, Martin Zapata-Zúñiga, Noe Macías-Segura, David Santiago-Algarra, Jose Dionisio Castillo-Ortiz, Yadira Bastián, Cesar Ramos-Remus, Jose Antonio Enciso-Moreno, Julio Enrique Castañeda-Delgado
Rheumatoid arthritis (RA) is a systemic autoimmune disorder characterized by chronic and symmetrical inflammation of synovial tissue with subsequent joint destruction. SUMO1 is an important regulator of apoptosis through non-canonical mechanism in synovial fibroblasts, and POU2AF1 is a known B-cell transcriptional co-activator. The specific objective of this study was to measure the expression of SUMO1 and POU2AF1 on first-degree relatives of patients with RA and also in the preclinical and clinical stages of RA and describe their possible role in RA physiopathology...
January 25, 2019: International Journal of Immunogenetics
Sulev Reisberg, Nicholas Galwey, Paul Avillach, Anna-Stina Sahlqvist, Liis Kolberg, Reedik Mägi, Tõnu Esko, Jaak Vilo, Glen James
Allele-specific analyses to understand frequency differences across populations, particularly populations not well studied, are important to help identify variants that may have a functional effect on disease mechanisms and phenotypic predisposition, facilitating new Genome-Wide Association Studies (GWAS). We aimed to compare the allele frequency of 11 asthma-associated and 16 liver disease-associated single nucleotide polymorphisms (SNPs) between the Estonian, HapMap and 1000 genome project populations. When comparing EGCUT with HapMap populations, the largest difference in allele frequencies was observed with the Maasai population in Kinyawa, Kenya, with 12 SNP variants reporting statistical significance...
January 19, 2019: International Journal of Immunogenetics
George Narh Doku, William Kweku Agbozo, Rabia Asiba Annor, Gladis Doeyo Kisseh, Matilda Ampomah Owusu
Knowledge on blood group phenotypes is of key importance in clinical practice. It used in blood transfusion practice to determine the direction of recruitment of voluntary donors as required for each population within a country, and for disease association and population genetics studies. This study aimed at reporting the frequency of ABO and Rhesus (Rh) groups in the population of the Greater-Accra region of Ghana and amongst their various ethnic groups. A retrospective study in 11 main hospitals within the region was done...
January 3, 2019: International Journal of Immunogenetics
Nanying Chen, Wei Wang, Fang Wang, Lina Dong, Shuoxian Zhao, Wei Zhang, Ji He, He Huang, Faming Zhu
The distributions of HLA allele and haplotype are variable in different ethnic populations and the data for some populations have been published. However, the data on HLA-C and HLA-DQB1 loci and the haplotype of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci at a high-resolution level are limited in Zhejiang Han population, China. In this study, the frequencies of the HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci and haplotypes were analysed among 3,548 volunteers from the Zhejiang Han population using polymerase chain reaction sequencing-based typing method...
December 28, 2018: International Journal of Immunogenetics
Mikrban Tursun, ZhenFang Wang, WenTao Guo, Ayshamgul Hasim, Wei Tian
A new allelic variant in MICB*005 lineage, MICB*005:09, has been identified in a male Uyghur individual recruited from Xinjiang Uyghur Autonomous Region, China by PCR-sequence-based typing (Sanger sequencing) and confirmed by cloning and sequencing. Aligned with MICB*005:03, this new allelic variant shows a synonymous T substitution at nucleotide position 8 in exon 2, corresponding to codon 3 (CAC→CAT) of the mature MICB mRNA transcript.
December 18, 2018: International Journal of Immunogenetics
Kendall R Clark, Wei Lue Tong, Blake M Callahan, John M Yavorski, Yaping N Tu, George Blanck
The opportunity for the highly efficient recovery of immune receptor recombination data from cancer specimens, including the ready assessment of immune receptor V and J usage, raises the issue of establishing precise values of assessing the immune receptor status as opposed to obtaining basic information regarding lymphocyte infiltration, in the cancer setting. In this report, we obtained the lymphocyte infiltration percentages from the cancer digital slide archive representing uterine corpus endometrial carcinoma (UCEC) and correlated these data with recovery of the immune receptor recombination reads from corresponding UCEC exome files...
November 26, 2018: International Journal of Immunogenetics
Salam Sawadogo, Koumpingnin Nebie, Tieba Millogo, Eléonore Kafando, Abdoul-Guyani Sawadogo, Honorine Dahourou, Fauceny Traore, Siaka Ouattara, Oumarou Ouedraogo, Kisito Kienou, Yonli Yentema Dieudonné, Véronique Deneys
Geographical distribution of ABO and RHD antigens is important for blood transfusion services and population genetics studies. There are few data on this topic in Burkina Faso, a multi-ethnic country. Our study aims at reporting phenotypic and allelic frequencies of ABO and RHD blood groups among voluntary blood donors from various ethnical regions of Burkina Faso. We conducted a cross-sectional study including 81,486 blood donors. ABO allelic frequencies were determined using the Bernstein method. Differences in phenotypic distribution of blood groups were assessed using the chi-square test; a p value <0...
November 17, 2018: International Journal of Immunogenetics
Saeed Mohammadi, Marie Saghaeian Jazi, Mojtaba Zare Ebrahimabad, Farnaz Eghbalpour, Nafiseh Abdolahi, Alijan Tabarraei, Yaghoub Yazdani
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with unknown aetiology. According to the role of interleukin 10 (IL10) in SLE pathogenesis, the genetic alterations in its promoter region could be associated with elevated IL10 levels and exacerbated disease. Here, we investigated the association of genotype and haplotype frequencies of three IL10 gene promoter polymorphisms with susceptibility to SLE, IL10 plasma levels and disease activity of patients in an Iranian population. A total of 116 SLE patients and 131 healthy subjects were enrolled...
November 15, 2018: International Journal of Immunogenetics
Robert F Oldt, Sreetharan Kanthaswamy, Mae Montes, Laura Schumann, Jose Grijalva, Srichan Bunlungsup, Paul Houghton, David Glenn Smith, Suchinda Malaivijitnond
Knowledge of the macaque ABO blood group system has been critical in the development of nonhuman primates (NHPs) as a translational model. Serving not only as a useful homologue of the disease-linked ABO system in humans, macaque ABO blood groups must be typed in colonies prior to performing experimental procedures requiring blood transfusion or transplantation. While the rates of blood type incompatibility and the distributions of A, B and AB blood groups are known in large samples of rhesus (Macaca mulatta) and cynomolgus (M...
November 2, 2018: International Journal of Immunogenetics
Steven G E Marsh
No abstract text is available yet for this article.
October 30, 2018: International Journal of Immunogenetics
Steven G E Marsh
No abstract text is available yet for this article.
October 30, 2018: International Journal of Immunogenetics
Steven G E Marsh
No abstract text is available yet for this article.
October 25, 2018: International Journal of Immunogenetics
Danyal Imani, Amirreza Azimi, Zahra Salehi, Nima Rezaei, Rahimeh Emamnejad, Maryam Sadr, Maryam Izad
Nod-like receptor protein 3 (NLRP3) inflammasome is a multi-protein complex that controls the production of pro-inflammatory cytokines, IL-18 and IL-1β, through caspase-1 activation. These inflammatory cytokines play an important role in the development of multiple sclerosis (MS). The inflammasome NLRP3 gene variations and expression level have been suggested to affect the immune system activity. This case-control study was performed to determine the association of NLRP3 genetic variants and differential expression with MS...
September 28, 2018: International Journal of Immunogenetics
Meri Kirijas, Sonja Genadieva Stavrik, Dejan Trajkov, Slavica Hristomanova Mitkovska, Aleksandar Senev, Olivija Efinska Mladenovska, Olgica Sibinovska, Aleksandar Petlichkovski
The importance of HLA alleles in the process of haematopoietic stem cell transplantation, especially the process of unrelated donor search, is enormous. Macedonian Bone Marrow Donor Registry was established in 2010 and has registered volunteer donors from different nationalities that live in the Republic of Macedonia. The aim of this study was to determine the HLA allele and haplotype frequencies of the volunteer donors from the Macedonian Bone Marrow Donor Registry and to compare this results with the Macedonians from a family study...
September 6, 2018: International Journal of Immunogenetics
Wei Wang, Nanying Chen, Lina Dong, Yanmin He, Sudan Tao, Wei Zhang, Ji He, Jiangtian Chen, Faming Zhu
Three new HLA class I alleles were described in the Chinese population. HLA-B*46:68,-B*46:71,-B*46:72 alleles differ from HLA-B*46:01:01 by a single nucleotide substitution at position 485C>T, 484A>G, 299T>A respectively.
August 17, 2018: International Journal of Immunogenetics
Steven G E Marsh
No abstract text is available yet for this article.
August 9, 2018: International Journal of Immunogenetics
Steven G E Marsh
No abstract text is available yet for this article.
August 3, 2018: International Journal of Immunogenetics
Steven G E Marsh
No abstract text is available yet for this article.
August 2, 2018: International Journal of Immunogenetics
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