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International Journal of Immunogenetics

A L Wang, B Jiang, X Y Qian, Q Zhang, H Peng, Y H Zhang
Hypertension has been suggested to be mediated by immunity and inflammation. As immune system genes, killer cell immunoglobulin-like receptors (KIRs) genes play an important role in the pathogenesis of autoimmune diseases. We conducted a community population-based case-control study to analyse associations between KIR genes and hypertension. KIR genes were genotyped using sequence-specific primer polymerase chain reaction in 380 unrelated essential hypertensives and 527 normotensives. The frequencies of KIR2DS5 gene were significantly decreased in participants with high high-sensitivity C-reactive protein (hsCRP) compared with participants with low hsCRP (17...
November 3, 2017: International Journal of Immunogenetics
L C Ferreira, T P B Lopes, T B Guimarães, C E M Gomes, S M B Jeronimo
The effect of HLA-G 14 bp Ins/Del polymorphism (rs371194629) on the risk of preeclampsia has been assessed in several populations, yet the results are still conflicting. Lack of power due to small sample sizes is a common cause of inconsistencies in genetic association studies. We aimed to test whether the maternal polymorphism is associated with preeclampsia, eclampsia or HELLP syndrome (acronym for Hemolysis, Elevation of Liver enzymes, Low Platelets). To achieve a statistical power greater than 0.90, a total of 741 women (332 controls, 246 preeclampsia, 57 eclampsia and 106 HELLP) were genotyped for the 14-bp Ins/Del polymorphism...
November 3, 2017: International Journal of Immunogenetics
L X Li, W Tian, F M Zhu, W Y Wang, J H Cai
A novel HLA-B*39:01:01-related variant, HLA-B*39:130, has been identified in a normal individual of Han ethnicity in Hunan province, southern China. Following Sanger polymerase chain reaction-sequence-based typing (PCR-SBT), this new allele was further confirmed by cloning, phasing and sequencing. Aligned with HLA-B*39:01:01, HLA-B*39:130 has a nonsynonymous thymine substitution at nucleotide position 94 in exon 4, resulting in amino acid change from threonine to isoleucine at codon 214 (ACA→ATA) of the mature HLA-BmRNA molecule...
October 30, 2017: International Journal of Immunogenetics
X Liao, H Li, W Jiao, C Zhu, W Wang, Z Mo, Z Yang, Z Zhu
Individuals with the human neutrophil antigen (HNA)-3b/3b type can produce HNA-3a antibodies, which have been reported to cause severe, sometimes fatal transfusion-related acute lung injury (TRALI). Our study aimed to determine the genotype frequency of HNA-3a/3b which will be helpful to estimate the potential risk for forming anti-HNA-3a, the clinically relevant antibody linked to TRALI in two different ethnic groups of southern China. Five hundred unrelated and healthy blood donors (284 male, 216 female; 300 Zhuangs, 200 Dongs) from the Guangxi Zhuang Autonomous Region were simultaneously typed for the HNA-3 allele using a polymerase chain reaction sequence-based typing (PCR-SBT) method...
October 22, 2017: International Journal of Immunogenetics
M Qrafli, M Najimi, R Elaouad, K Sadki
Tuberculosis (TB) is a serious infectious disease that kills approximately two million people per year, particularly in low- and middle-income countries. Numerous genetic epidemiology studies have been conducted of many ethnic groups worldwide and have highlighted the critical impact of the genetic environment on TB distribution. Many candidate genes associated with resistance or susceptibility to TB have been identified. In Morocco, where TB is still a major public health problem, various observations of clinical, microbiological and incidence distribution are heavily affected by genetic background and external environment...
October 22, 2017: International Journal of Immunogenetics
Sergio Yair Rodríguez-Preciado, María Teresa Magaña-Torres, Ana Rebeca Jaloma Cruz, Patricio Barros-Núñez
To estimate the frequency of monoclonal B cells in Mexican general population from two different regions of Mexico. Monoclonal B cells were detected by rearrangements of the immunoglobulin heavy chains (IGH) in 288 individuals: 188 from a metropolitan area and 100 from a rural area. After DNA extraction from peripheral blood by the CTAB/DTAB method, multiplex PCR was used to amplify the IGH rearrangements, followed by capillary electrophoresis. In together, 9.4% of the studied individuals showed monoclonal B cells...
October 22, 2017: International Journal of Immunogenetics
M Badalzadeh, S Tajik, M R Fazlollahi, M Houshmand, F Fattahi, Z Alizadeh, M Movahedi, Z Adab, G T Khotaei, A A Hamidieh, H Heidarnazhad, Z Pourpak
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. The enzyme is at least composed of membrane-bound subunits gp91-phox and p22-phox (also named cytochrome b558 ), and cytosolic ones p40-phox, p47-phox and p67-phox. A defect in the enzyme activity leads to impaired intracellular killing of phagocytic cells. The CYBA gene encoding p22-phox is located on chromosome 16q24. In this study, new genetic changes of CYBA gene in 22 Iranian patients with autosomal recessive-CGD (AR-CGD) were identified...
September 20, 2017: International Journal of Immunogenetics
S-H Zhou, X-H Liang, L-N Shao, W-J Yu, C Zhao, M Liu
Hepatitis C virus (HCV) is a major cause of chronic hepatitis. Previous studies have identified a number of single nucleotide polymorphisms that are associated with HCV infection. Human platelet antigens (HPAs) polymorphisms play an important role in several diseases. Here, we demonstrated the association of the HPA-2, HPA-3, HPA-5 and HPA-15 polymorphisms with susceptibility to HCV infection in Chinese population. Overall, 118 patients with HCV and 167 controls were genotyped for HPAs. There were no significant differences in the allele and genotype frequency distribution for the HPA-3, HPA-5 and HPA-15 systems between the patients with chronic HCV infection and the healthy controls (p > ...
September 20, 2017: International Journal of Immunogenetics
E Eskandari, T Dahmardeh, V Safdari, S Khosravi, E Pahlevani
To investigate whether 14-bp Ins/Del polymorphism in HLA-G gene is associated with the risk of chronic hepatitis B (CHB) infection. This study was performed on a total of 396 individuals including 199 CHB patients and 197 healthy subjects from a south-east Iranian population. We genotyped 14-bp Ins/Del polymorphism in the HLA-G gene using polymerase chain reaction method. The results of our study revealed that the HLA-G 14-bp deletion polymorphism was associated with a reduced risk of CHB at both allele and genotypic levels...
September 20, 2017: International Journal of Immunogenetics
Q Luo, X Guo, S Peng, W Luo, F Tian, P Yu, Y Zou
MICA/MICB gene polymorphisms are related to several cancers and infectious diseases, but there are no reports on the association between MICA/MICB gene polymorphisms and respiratory syncytial virus (RSV) infection. To clarify the association between MICA/MICB gene polymorphisms and infection of RSV in children, we collected fresh blood samples from paediatric patients with and without pneumonia after RSV infection. The MICA/MICB alleles were characterized by PCR sequence-specific primers (PCR-SSP) and PCR sequence-based genotyping (PCR-SBT), and then, the frequency of the MICA/MICB alleles and haplotypes was calculated...
September 18, 2017: International Journal of Immunogenetics
(no author information available yet)
No abstract text is available yet for this article.
December 2017: International Journal of Immunogenetics
A E Kennedy, U Ozbek, M T Dorak
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...
October 2017: International Journal of Immunogenetics
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
Cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) molecule is expressed on T-lymphocyte membrane and negatively influences the antigen-presenting process. Reduced expression of CTLA-4 due to gene polymorphisms is associated with increased risk of autoimmune disorders, whose physiopathology is similar to that of post-transfusion red blood cell (RBC) alloimmunization. Our goal was to evaluate if polymorphisms of CTLA-4 gene that affect protein expression are associated with RBC alloimmunization. This was a case-control study in which 134 sickle cell disease (SCD) patients and 253 non-SCD patients were included...
October 2017: International Journal of Immunogenetics
S G E Marsh
No abstract text is available yet for this article.
October 2017: International Journal of Immunogenetics
S G E Marsh
No abstract text is available yet for this article.
October 2017: International Journal of Immunogenetics
S G E Marsh
No abstract text is available yet for this article.
October 2017: International Journal of Immunogenetics
J Street, C Darke
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 the B*14:08 specificity is, like the B*14:53 product, neither B64 nor B65 and appears as a "short" B14 specificity...
October 2017: International Journal of Immunogenetics
K Dežman, P Korošec, H Rupnik, M Rijavec
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)...
October 2017: International Journal of Immunogenetics
H Spínola, A Lemos, A R Couto, B Parreira, M Soares, I Dutra, J Bruges-Armas, A Brehm, S Abreu
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...
August 20, 2017: International Journal of Immunogenetics
D Middleton, A B Hahn, S G E Marsh
No abstract text is available yet for this article.
August 2017: International Journal of Immunogenetics
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