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Correlation of TBX21 gene polymorphisms with ankylosing spondylitis in a Chinese population Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-03-12 Lin Li, Jiankang Shan, Haixin Fang, Guangqi An, Min Zhang, Pengyi Zhou, Kunpeng Xie, Bo Jin, Haiyan Zhu, Xuemin Jin, Peizeng Yang, Liping Du
Genome‐wide association studies analysis has revealed associations between ankylosing spondylitis (AS) and loci on the TBX21 gene across various populations. This study aimed to investigate if there is a connection between a higher risk of AS in a Chinese population and two polymorphism loci on the TBX21 gene. To achieve this, we performed a case–control investigation involving 363 patients with AS
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The role of monocyte/macrophage chemokines in pathogenesis of osteoarthritis: A review Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-03-11 Hao Luo, Linfeng Li, Song Han, Tao Liu
Osteoarthritis (OA) is one of the most common degenerative diseases characterised by joint pain, swelling and decreased mobility, with its main pathological features being articular synovitis, cartilage degeneration and osteophyte formation. Inflammatory cytokines and chemokines secreted by activated immunocytes can trigger various inflammatory and immune responses in articular cartilage and synovium
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Homozygous HLA‐DQB1*06:02 combined with T‐cell receptor alpha polymorphism results in narcolepsy onset – A familial case report Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-03-11 Steven Jervis, Antony Payton, Arpana Verma, Rachel Thomasson, Kay Poulton
Narcolepsy is a life‐long neurological disorder with well‐established genetic risk factors. Human leukocyte antigen‐DQB1*06:02 remains the strongest genetic predeterminant; however, polymorphisms in genes encoding the T‐cell receptor alpha chain are also strongly linked. This case report shows the inheritance pathway of these genetic markers contributing to narcolepsy onset in a 17‐year‐old female
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Frequency distribution of HLA class I and II alleles in Greek population and their significance in orchestrating the National Donor Registry Program Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-03-09 Panagiotis Mallis, Alexandra Siorenta, Erasmia Stamathioudaki, Vasiliki Vrani, George Paterakis
Human leukocyte antigens (HLA) represent one of the most polymorphic systems in humans, responsible for the identification of foreign antigens and the presentation of immune responses. Therefore, HLA is considered to play a major role in human disorders, donor‐recipient matching and transplantation outcomes. This study aimed to determine the HLA class I and II alleles and haplotypes in the Greek population
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A functional variant of ALDH1A2 is associated with hand osteoarthritis in the Chinese population Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-03-05 Jian Dai, Haitao Jiang, Zhaoqi Yang, Chuan Chen, Xiaoming Tang
Genome‐wide association study identified common variants within the ALDH1A2 gene as the susceptible loci of hand osteoarthritis (HOA) in UK and Iceland populations. Located in chromosome 15, ALDH1A2 encodes aldehyde dehydrogenase family 1 member A2, which is an enzyme that catalyses the synthesis of retinoic acid from retinaldehyde. Our purposes were to replicate the association of functional variant
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Redundancy and absurd names in immunology Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-02-26 Piotr Kuśnierczyk
In this short review, examples of unnecessary multiple names of cell membrane molecules, for example, immune checkpoints and cytokines, are presented. Moreover, ridiculous or inaccurate names, such as ‘Regulated on activation, normal T‐cell expressed and secreted’ and ‘tissue factor’, are discussed.
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Predicting flow cytometry crossmatch results from single-antigen bead testing Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-02-19 Patrick A. Flynn, Sebastian Fernando, Judith E. Worthington, Kay V. Poulton
The aim of this study was to devise an algorithm that would predict flow cytometry crossmatch (FCXM) results using single-antigen bead (SAB) mean fluorescent intensity (MFI) levels using samples received through the National External Quality Assurance Scheme (NEQAS) 2B external proficiency testing scheme between 2019 and 2023. A total of 159 serum samples were retrospectively screened using LABScreen
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Saliva direct PCR protocol for HLA-DQB1*02 genotyping Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-01-31 Angeles Carrillo, María Jimena Manzur, Maximiliano Juri Ayub
Celiac disease (CD) is an immune disorder, that is triggered by gluten ingestion in genetically predisposed individuals. The HLA-DQB1*02 allele is the main predisposing genetic factor and a candidate for first-line genotyping screening. We designed and validated a simple, DNA purification-free PCR protocol directly from crude saliva, enabling the detection of the DQB1*02 allele. This assay also distinguishes
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Correlation of single nucleotide polymorphisms in the AGT gene with susceptibility to systemic lupus erythematosus in Northeast China Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-01-24 Huitao Wu, Xuan Zhang, Guiling Lin, Qi Zhang, Ziman He, Zhe Wang, Wenlu Xu, Xiyu Yin, Linglan Su, Yanping Zhuang, Aimin Gong
To investigate the correlation between susceptibility to systemic lupus erythematosus (SLE) and single nucleotide polymorphisms (SNPs) rs699, rs4762 and rs1926723 in the AGT gene in the population of Northeast China, while also introducing a new method for early detection of SLE. A total of 856 cases of SLE patients and healthy volunteers who attended the First Affiliated Hospital of Harbin Medical
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Non-invasive molecular biomarkers for monitoring solid organ transplantation: A comprehensive overview Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-01-10 Jeffy J Fernando, Raja Biswas, Lalitha Biswas
Solid organ transplantation is a life-saving intervention for individuals with end-stage organ failure. Despite the effectiveness of immunosuppressive therapy, the risk of graft rejection persists in all viable transplants between individuals. The risk of rejection may vary depending on the degree of compatibility between the donor and recipient for both human leucocyte antigen (HLA) and non-HLA gene-encoded
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Gene polymorphisms of an interleukin-23 receptor associated with susceptibility to rheumatoid arthritis in the Western Chinese Han population Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-01-09 Ruyu Ren, Huiling Tan, Xuean Wang, Li Wang, Bin Yang
Rheumatoid arthritis (RA) is a chronic inflammatory disease which is closely related to genetic background. Single-nucleotide polymorphisms (SNPs) have been found to play an important role in the development of RA. This study intends to investigate the links between gene polymorphisms in the interleukin-23 receptor (IL23R) and interleukin 17A (IL17A) and susceptibility to RA in the Western Chinese
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Reduced human leukocyte antigen mismatching is associated with more favourable outcomes after unrelated donor haematopoietic stem cell transplantation Int. J. Immunogenet. (IF 2.2) Pub Date : 2024-01-06 Beatrice Valatkaite-Rakstiene, Rita Cekauskiene, Tadas Zvirblis, Arturas Jakubauskas
The patient–donor human leukocyte antigen (HLA) match remains the most important prognostic factor for successful unrelated donor haematopoietic stem cell transplantation (UD-HSCT). This single-centre study comprised 125 adult patients with malignant haematological diseases undergoing their first UD-HSCT. The primary goal of this study was to validate the impact of HLA matching on HSCT outcomes, specifically
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UK NEQAS and BSHI guideline: Laboratory testing and clinical interpretation of HLA genotyping results supporting the diagnosis of coeliac disease Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-12-28 Deborah Pritchard, Arthi Anand, Amy De'Ath, Helena Lee, Margaret Tracey Rees
Coeliac disease is a common immune-mediated inflammatory disorder caused by dietary gluten in genetically susceptible individuals. While the diagnosis of coeliac disease is based on serological and histological criteria, HLA-DQ genotyping can be useful, especially in excluding the diagnosis in patients who do not carry the relevant DQ heterodimers: DQA1*05 DQB1*02, DQB1*03:02 or DQA1*02 DQB1*02 (commonly
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The correlation between soluble human leukocyte antigen (sHLA-G) levels and +3010 polymorphism Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-12-12 Ahmed Alyami, Abdullah AlJurayyan, Bandar Alosaimi, Haitham Alkadi, Fadwa Alkhulaifi, Haya Al-jurayb, Awad Osman, Steve Christmas, Suliman Alomar, Zaid Al-Bayati
Human leukocyte antigen-G (HLA-G) is classified as non-classical HLA, located in the short arm of chromosome 6 and composed of seven introns and eight exons. The HLA-G gene has a lower frequency polymorphism in the coding area and higher variability at the regulatory 5′- and 3′-untranslated regions linked to HLA-G microRNA regulation. HLA-G molecule is known to have an immunomodulatory and tolerogenic
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Leukocyte immunoglobulin-like receptor A3 gene deletion in five Chinese populations and protective association with nasopharyngeal carcinoma Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-11-28 Wei Tian, Li Xin Li, Wen Cheng, He Kun Jin, Sha Shuang Zhang
Among the thirteen leukocyte Ig-like receptor (LILR) loci located at 19q13.4, LILRA3 is unique in that it encodes a soluble protein lacking the transmembrane and cytoplasmic domains, and a 6.7 kb deletion spanning the first seven exons has been detected in some human individuals. Presently, there is a lack of data about the distribution of LILRA3 gene deletion in more diverse ethnic groups. Also, no
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CCR5 promoter region polymorphisms in systemic lupus erythematosus Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-11-20 Juliana da Silveira Schauren, Amanda Henrique de Oliveira, Camila Rosat Consiglio, Odirlei André Monticielo, Ricardo Machado Xavier, Natália Schneider Nunes, Joel Henrique Ellwanger, José Artur Bogo Chies
This study investigated the impacts of CCR5 promoter region polymorphisms on the development of systemic lupus erythematosus (SLE) by comparing CCR5 genotypes and haplotypes from SLE patients with ethnically matched controls. A total of 382 SLE patients (289 European-derived and 93 African-derived) and 375 controls (243 European-derived and 132 African-derived) were genotyped for the CCR2-64I G > A
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CCR5 promoter polymorphisms associated with nonsmall cell lung cancer Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-11-14 Tianchang Lu, Yuhan Shi, Minyi Wang, Weipeng Liu, Yang Cao, Li Shi, Qianli Ma, Shuyuan Liu
C–C chemokine receptor 5 (CCR5) plays a crucial role in the regulation of immune cell activation and migration as well as the progression of many cancers. We performed an in silico analysis using public data resources and found that the lung cancer patients with higher CCR5 expression had a notably better overall survival than those with lower CCR5 expression patients and CCR5 expression level is positive
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BSHI and BTS UK guideline on the detection of alloantibodies in solid organ (and islet) transplantation Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-11-02 Richard Battle, Deborah Pritchard, Sarah Peacock, Catherine Hastie, Judith Worthington, Sue Jordan, Jennifer A McCaughlan, Martin Barnardo, Rebecca Cope, Claire Collins, Natalia Diaz-Burlinson, Carla Rosser, Luke Foster, Delordson Kallon, Olivia Shaw, David Briggs, David Turner, Arthi Anand, Arash Akbarzad-Yousefi, Deborah Sage
Solid organ transplantation represents the best (and in many cases only) treatment option for patients with end-stage organ failure. The effectiveness and functioning life of these transplants has improved each decade due to surgical and clinical advances, and accurate histocompatibility assessment. Patient exposure to alloantigen from another individual is a common occurrence and takes place through
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Are the cut-offs of the rheumatoid factor and anti-cyclic citrullinated peptide antibody different to distinguish rheumatoid arthritis from their primary differential diagnoses? Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-11-06 Rita Angélica Pineda-Sic, David Vega-Morales, Leticia Santoyo-Fexas, Mario Alberto Garza-Elizondo, Andrés Mendiola-Jiménez, Karina Itzel González Marquez, Berenice Carrillo-Haro
Objective: Rheumatoid factor (RF) and anti-cyclic citrullinated peptide antibody (anti-CCP) are commonly used for diagnosis of rheumatoid arthritis (RA), although other rheumatic diseases with arthritis can test positive. This study aimed to determine the cutoff values for RF and anti-CCP with the best diagnostic performance in a sample of patients with RA, compared with other rheumatic diseases.
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Familial Mediterranean fever and microRNAs Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-10-04 Aslihan Esra Bildirici
Familial Mediterranean fever (FMF) is an inherited disorder caused by the gain of function mutations in MEFV (MEditerranean FeVer) gene loci. FMF affects more than 100,000 people worldwide and generally seen in the eastern Mediterranean region and causes the lifelong diseases which have a significant effect on the patient's life quality and health systems. The identification of low penetrant or heterozygous
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Unrepresented human leucocyte antigen alleles in single-antigen bead assays: A single-centre cohort study Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-09-30 Quan Yao Ho, Chew Yen Phang, Ian Tatt Liew, May Ling Lai, Carolyn Shan-Yeu Tien, Sobhana Thangaraju, Marieta Chan, Terence Kee
Human leucocyte antigen (HLA) alleles may generate antibodies that are undetectable by routine single-antigen beads (SABs) assays if their unique epitopes are unrepresented. We aimed to describe the prevalence and explore the potential impact of unrepresented HLA alleles in standard SAB kits in our cohort. All individuals who had undergone two-field HLA typing (HLA-A/B/C/DRB1/DQA1/-DQB1/-DPA1/-DPB1)
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Correlation analysis of IL-37 gene polymorphisms and susceptibility to chronic HBV infection among Han people in Central China Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-09-21 Hai Cheng, Fenglan Sun, Yaoling Ouyang, Chengbin Li
Hepatitis B virus (HBV) is responsible for various liver diseases, such as chronic hepatitis B (CHB), liver fibrosis, liver cirrhosis (LC) and hepatocellular carcinoma (HCC), which pose a significant threat to human health. An ineffective immune response to HBV can result in viral chronicity. Interleukin-37 (IL-37), an immunomodulator, is capable of inhibiting both innate and adaptive immune responses
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HDAC3-mediated lncRNA ZFAS1 inhibited IL-13-induced secretion of proinflammatory cytokines in nasal epithelial cells by regulating the miR-7-5p/SIRT1 pathway Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-09-12 Jiabin Zhan, Rui Li, Yi Ye, Jing Zheng, Gang Wang, Jinli Wu, Xin Wei, Min Zeng
Allergic rhinitis (AR) is a disease that is difficult to cure and accompanies the patient's life. Proinflammatory cytokines (GM‑CSF and eotaxin) and MUC5AC are key mediators promoting AR progression. Herein, the function of lncRNA ZFAS1 in AR was investigated. Nasal epithelial cells (NECs) were subjected to 50 ng/mL IL-13 for 24 h to construct an AR cell model. The mRNA and protein expressions were
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Epigenome-wide methylation haplotype association analysis identified HLA-DRB1, HLA-DRB5 and HLA-DQB1 as risk factors for rheumatoid arthritis Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-09-09 Jing Xu, Haiyan Chen, Chen Sun, Siyu Wei, Junxian Tao, Zhe Jia, Xingyu Chen, Wenhua Lv, Hongchao Lv, Guoping Tang, Yongshuai Jiang, Mingming Zhang
The aim of this study was to compare nonrandom associations between physically adjacent single methylation polymorphism loci among rheumatoid arthritis (RA) and normal subjects for investigating RA-risk methylation haplotypes (meplotype). With 354 ACPA-positive RA patients and 335 normal controls selected from a case–control study based on Swedish population, we conducted the first RA epigenome-wide
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HLA-G 3′UTR haplotype analyses in HCV infection and HCV-derived cirrhosis, hepatocellular carcinoma and fibrosis Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-09-01 Julio Daimar Oliveira Correa, Francis Maria Báo Zambra, Rafael Tomoya Michita, Mário Reis Álvares-da-Silva, Daniel Simon, José Artur Bogo Chies
Hepatitis C virus (HCV) infection is a major cause of chronic liver disease. Chronic HCV infection is also an important cause of hepatic fibrosis, cirrhosis and hepatocellular carcinoma (HCC). HCV has the capacity to evade immune surveillance by altering the host immune response. Moreover, variations in immune-related genes can lead to differential susceptibility to HCV infection as well as interfere
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Analysis of null deletion polymorphism of glutathione S-transferase theta (GSTT-1), associated with anti-GSTT-1 antibodies development in transplantation Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-08-23 Manuel Muro-Perez, Gema González-Martínez, Pedro Martínez-García, Isabel Legaz, Pilar Zafrilla, Manuel Muro
Glutathione S-transferase theta 1 (GSTT1) is an enzyme involved in phase II biotransformation processes and a member of a multigene family of detoxifying and clearing reactive oxygen species. GSTT1 is polymorphic like other biotransforming enzymes, allowing variability in hepatic conjugation processes. Immunological recognition of the GSTT1 alloantigen, as evidenced by donor-specific antibodies formation
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Possible impact of HLA class I and class II on malignancies driven by a single germ-line BRCA1 mutation Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-07-28 Milena Ivanova, Anastasia Ormandjieva, Rumyana Dodova, Radka Kaneva, Velizar Shivarov
This study provides the first immunogenetic preliminary evidence that specific human leucocyte antigen (HLA) class I and class II alleles and haplotypes may be relevant for BRCA1 c.5263_5264insC driven oncogenesis. Observed HLA associations might have practical implications for establishment of predictive markers for the response to immunotherapies in malignancies driven by this germ-line mutation
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Correlation of CTLA-4 polymorphism and the risk of gastric cancer in a Chinese Bai population Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-07-26 Ping Yan, Shan Kong, Yong Zheng, Mingjing Cheng, Weidong Zhao
Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is involved in the regulation of immune responses mediated by T cells. This study aimed to explore the correlation between CTLA-4 gene polymorphisms and the risk of gastric cancer (GC) in the Bai minority population of southwestern China. A total of 422 GC patients and 397 healthy controls (HC) were included in this case–control study. Four single
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HLA-A*02:06 allele may be susceptible to myelodysplastic syndrome in Zhejiang Han population, China Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-07-23 Nanying Chen, Fang Wang, Yanmin Zhao, Lina Dong, Wei Wang, Wei Zhang, Ji He, Faming Zhu
The association between HLA loci and haematological malignancy has been reported in certain populations. However, there are limited data for HLA loci at a high-resolution level with haematological malignancy in China. In this study, a total of 1115 patients with haematological malignancies (including 490 AML, 410 acute lymphoblastic leukaemia (ALL), 122 myelodysplastic syndrome [MDS] and 93 non-Hodgkin's
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Human leukocyte antigen-G in gynaecological tumours Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-07-06 Xinmeng Guo, Jinning Zhang, Jin Shang, Yanfei Cheng, Shuang Tian, Yuanqing Yao
Gynaecological tumours that threaten the health of women, especially when advanced and recurrent, have remained mostly intractable to existing treatments. Therefore, new therapeutic targets are urgently needed. Human leukocyte antigen-G (HLA-G) is a nonclassical major histocompatibility complex class I molecule typically expressed in foetuses for protection against destruction by the maternal immune
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ICOS gene polymorphisms in systemic lupus erythematosus: A case–control study Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-06-20 Hana Houssaini, Emna Bouallegui, Olfa Abida, Safa Tahri, Nesrine Elloumi, Hend Hachicha, Sameh Marzouk, Zouhir Bahloul, Hatem Masmoudi, Raouia Fakhfakh
The inducible T-cell costimulator (ICOS) may play an important role in adaptive immunity by regulating the interaction between T cells and antigen-presenting cells. Disruption of this molecule can lead to autoimmune diseases, in particular systemic lupus erythematosus (SLE). In this study, we aimed to explore the possible association between ICOS gene polymorphisms and SLE as well as their influence
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Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-06-12 Sevim Busra Korkmaz, Mehmet Ali Karaselek, Selma Erol Aytekin, Huseyin Tokgoz, Ismail Reisli, Sukru Guner, Sevgi Keles
Severe combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder characterized by impairment in the development and function of lymphocytes and could be fatal if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are various diagnostic criteria for SCID among different primary immunodeficiency societies. We retrospectively evaluated clinical
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Interleukin-21 receptor gene polymorphism (rs2285452 A/G) is associated with susceptibility to Behçet's disease Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-05-27 Rajaa Lahmar, Elyes Chabchoub, Ramzi Zemni, Mzabi Anis, Neirouz Ghannouchi, Foued Ben Hadj Slama
Behçet's disease (BD) is a chronic auto inflammatory disorder of unknown aetiology. Recently, the dysregulation of interleukin-21 receptor (IL-21R) has been incriminated in different autoimmune and auto-inflammatory diseases, such as systemic lupus erythematous, rheumatoid arthritis, and type 1 diabetes. Herein, we aimed to investigate the association of two Il-21R gene polymorphisms with BD. IL-21R
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Genetic landscape of human platelet antigen variants in the Indian population analysed from 1029 whole genomes Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-05-09 Mercy Rophina, Rahul C. Bhoyar, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra, Aastha Vatsyayan, Bani Jolly, Sridhar Sivasubbu, Vinod Scaria
Genetic variants in human platelet antigens (HPAs) considered allo- or auto antigens are associated with various disorders, including neonatal alloimmune thrombocytopenia, platelet transfusion refractoriness and post-transfusion purpura. Although global differences in genotype frequencies were observed, the distributions of HPA variants in the Indian population are largely unknown. This study aims
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Solute carrier family 11 member 1 genetic polymorphisms rs17235409 and rs3731865 associate with susceptibility to extremity post-traumatic osteomyelitis in a Chinese Han population Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-04-25 Nan Jiang, Yong-Cong Zhong, Qing-Rong Lin, Chen-Sheng Song, Bin Yu, Yan-Jun Hu
Genetic variations in the solute carrier family 11 member 1 (SLC11A1) gene have been implicated in developing inflammatory disorders. However, it is still unclear whether such polymorphisms contribute to the pathogenesis of post-traumatic osteomyelitis (PTOM). Therefore, this study investigated the roles of genetic variations of the SLC11A1 gene (rs17235409 and rs3731865) in PTOM development in a Chinese
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Investigation of the relationship between IL17A, IL17F and ILR1N polymorphisms and COVID-19 severity: The predictive role of IL17A rs2275913 polymorphism in the clinical course of COVID-19 Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-04-13 Gunes Cakmak Genc, Sevim Karakas Celik, Busra Yilmaz, Nihal Piskin, Bulent Altinsoy, Ahmet Dursun
Coronavirus disease 2019 (COVID-19) is an infectious respiratory disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although the mortality rate of the disease has been relatively under control as of 2022, more than 15 million confirmed COVID-19 cases have been detected in Turkey to date, causing more than 100,000 deaths. The clinical manifestation of the disease varies
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Research progress of B subfamily of leucocyte immunoglobulin-like receptors in inflammation Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-04-11 Mengting Zhang, Jun Yang, Jing Zhang, Cuiyuan Huang, Haiyin Liu, Peiyue Zhang, Yuhong Zhai, Li Liu, Jian Yang
Leucocyte immunoglobulin-like receptors subfamily B (LILRB) belongs to the type I transmembrane glycoproteins, which is the immunosuppressive receptor. LILRBs are widely expressed in bone marrow cells, hematopoietic stem cells, nerve cells and other body cells. Studies have found that LILRBs receptor can bind to a variety of ligands and has a variety of biological functions such as regulating inflammatory
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Killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1 gene *007 may modulate disease progression of human immunodeficiency virus-1 infection in the Japanese population Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-02-17 Taeko K. Naruse, Makiko Konishi-Takemura, Risa Yanagida, Gaurav Sharma, Madhu Vajpayee, Hiroshi Terunuma, Narinder K. Mehra, Gurvinder Kaur, Akinori Kimura
One of the KIR allele, KIR3DL1*007, was associated with the progression to acquired immunodeficiency syndrome and not with the susceptibility to HIV-1 infection in the Japanese and Indian populations, implying that KIR3DL1*007-positive NK cells might eliminate HIV-infected cells less effectively than NK cells bearing the other KIR3DL1 alleles or KIR3DS1 alleles.
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Interleukin 17A and 17F polymorphisms and asthma susceptibility: Correspondence. Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-02-13 Amnuay Kleebayoon,Viroj Wiwanitkit
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IL-17A and IL-17F polymorphisms and asthma risk: A meta-analysis. Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-02-13 Young Ho Lee
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Genetic variations in low-to-medium-affinity Fcγ receptors and autoimmune neutropenia in early childhood in a Danish cohort Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-02-08 Kirstine Kløve-Mogensen, Rudi Steffensen, Tania Nicole Masmas, Andreas Glenthøj, Christina Friis Jensen, Thure Mors Haunstrup, Paul Ratcliffe, Petter Höglund, Henrik Hasle, Kaspar René Nielsen
Autoimmune neutropenia (AIN) in early childhood is caused by autoantibodies directed against antigens on the neutrophil membrane and is a frequent cause of neutropenia in children. Association of AIN with Fcγ receptor (FCGR) 3B variants is well described. In this study, we investigate genetic variations in the FCGR locus and copy number variation of FCGR3B. A total of 130 antibody-positive AIN patients
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Vitamin D receptor gene polymorphisms influence on clinical profile and bone mineral density at different skeletal sites in postmenopausal osteoporotic women Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-02-01 Jaqueline de Azevêdo Silva, Camilla Albertina Dantas de Lima, Werbson Lima Guaraná, Alexandre Domingues Barbosa, Thiago Sotero Fragoso, Ângela Luzia Branco Pinto Duarte, Sergio Crovella, Paula Sandrin-Garcia
Bone remodeling is marked by bone synthesis and absorption balance, and any altered dynamic in this process leads to osteoporosis (OP). The interaction of hormonal, environmental and genetic factors regulate bone metabolism. Since vitamin D displays a classic role in bone metabolism regulation, acting through vitamin D receptor (VDR), the genetic variants within VDR were the first ones associated with
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Associations between interleukin 17A and 17F polymorphisms and asthma susceptibility: A meta-analysis Int. J. Immunogenet. (IF 2.2) Pub Date : 2023-01-19 Young Ho Lee, Gwan Gyu Song
Owing to their role in inflammatory reactions and immunological responses as well as their chromosomal location, interleukin (IL) 17A and 17F are regarded as candidate causal genes associated with asthma. The aim of this study was to determine whether IL17 polymorphisms are associated with susceptibility to asthma. We used the PubMed/Medline and Embase databases to search for studies reporting IL17
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TCR gene segment usage and HLA alleles that are associated with cancer survival rates also represent racial disparities Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-12-30 George Angelakakis, Karisa S. Serraneau, Vayda R. Barker, Blake M. Callahan, Wei Lue Tong, Saif Zaman, Taha I. Huda, George Blanck
Understanding racial disparities in cancer outcomes continues to be a challenge, with likely many factors at play, including socioeconomic factors and genetic polymorphisms impacting basic cellular and molecular functions. Additionally, it is possible that specific combinations of environment and genetics have specific impacts. T-cell receptor (TCR) gene segment usage, HLA allele combinations have
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Association of class II HLA alleles with susceptibility to develop immune-mediated diseases in Paraguayan patients Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-12-21 Isabel Acosta-Colman, Sonia Cabrera-Villalba, Ana Ayala-Lugo, Valerie Jolly, Marcos Vazquez, Zoilo Morel, Patricia Langjahr, Margarita Duarte, Ruth Zarate, Maria Eugenia Acosta, Gabriela Avila-Pedretti, Antonio Julià, María Teresa Martinez, Sara Marsal
Genetic and nongenetic factors are involved in the pathogenesis of immune-mediated inflammatory diseases (IMIDs). The best-known genetic factor for susceptibility to IMIDs is the human leukocyte antigen (HLA). The aim of the present study was to evaluate the association of HLA class II genes with the risk of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and systemic sclerosis (SSc)
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VDR gene polymorphisms and susceptibility to COVID-19: Correspondence. Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-12-01 Pathum Sookaromdee,Viroj Wiwanitkit
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Rheumatoid arthritis-associated antibodies in healthy first-degree relatives of RA patients Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-11-25 David Vega-Morales, Lorena Pérez-Barbosa, Luis Francisco Vega-Sevilla, Jorge Antonio Esquivel-Valerio, Luis Eduardo Ramírez-Monterrubio, Karina I Gonzalez-Torres, Ana Sofía Leal-Bramasco, Cesar V Elizondo-Solis, Andres Mendiola-Jimenez, Mario Alberto Garza-Elizondo, Dionicio Ángel Galarza-Delgado
Rheumatoid arthritis (RA) affects approximately 1.5% of the population worldwide and 0.5–3.3% of the Mexican population. The presence of rheumatoid factor (RF), anti-citrullinated protein antibodies (ACPA) and anti-carbamylated protein (anti-CarP) antibodies has been described in populations at risk of RA development, such as first-degree relatives (FDR). Anti-CarP antibodies are present in RA patients
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Identification of the novel HLA-DPA1*01:03:43 allele resulting from an intralocus recombination involving the DPA1*04:01:01:03 and DPA1*01:03:01:27 alleles sequenced by Next Generation Sequencing (NGS) Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-11-07 Turnbull Hannah, Brewin Gemma, Peacock Sarah
HLA-DPA1 intralocus recombination between DPA1*04:01:01:03 and DPA1*01:03:01:27, or closely related other alleles, results in a novel allele HLA-DPA1*01:03:43.
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Association between the interleukin-1B polymorphism at rs16944 T>C and diabetic retinopathy Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-11-05 Nengbo Lin, Hua Lu, Xiaoling Cheng, Ya Zhao, Qin Wan, Yi Luo, Ying Miao, Xue Bai, Dan Liu, Chao Wang
Diabetic retinopathy (DR) is a common microvascular complication of diabetes and the leading cause of blindness at working age. DR is considered to be a chronic low-grade inflammatory subclinical disease, and its pathogenesis is related to genetic and environmental factors. Interleukin (IL)-1 is an important inflammatory cytokine. An association between DR and the rs16944 (IL-1B-511) T>C gene polymorphism
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Association between gene polymorphisms of IL-12, IL-12 receptor and IL-27 and organ involvement in Iranian endometriosis patients Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-11-03 Maryam Zare, Fatemeh Hesampour, Tahereh Poordast, Maryam Valibeigi, Maliheh Enayatmehri, Sahar Ahmadi, Fatemeh Nasri, Behrouz Gharesi-Fard
Endometriosis is an inflammatory disease characterized by the presence of ectopic endometrial tissue, immune cell dysfunction and abnormal cytokine secretion. In addition to immunological factors, genetic variations that influence endometriosis severity and cytokine expression levels play important roles in the pathogenesis of this disease. Interleukin-12 (IL-12), specifically its p40 subunit encoded
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Genetic polymorphisms of IL6 gene –174G > C and –597G > A are associated with the risk of COVID-19 severity Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-11-02 Shrikant Verma, Sushma Verma, Faizan Haider Khan, Zeba Siddiqi, Syed Tasleem Raza, Mohammad Abbas, Farzana Mahdi
Coronavirus disease-2019 (COVID-19) is pro-inflammatory disorder characterized by acute respiratory distress syndrome. Interleukin-6, a cytokine secreted by macrophages, which mediates an inflammatory response, is frequently increased and associated with the severity in COVID-19 patients. The differential expression of IL6 cytokine in COVID-19 patients may be associated with the presence of single
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Study of HLA class II loci reveals DQB1*03:03:02 as a risk factor for asthma in a Pakistani population Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-10-22 Nusrat Saba, Ghazala Kaukab Raja, Osman Yusuf, Sadia Rehman, Saeeda Munir, Sumaira Sajjad, Atika Mansoor
Asthma, a chronic inflammatory disorder of the lungs and airways, typically results from a combination of multiple environmental and genetic factors. Human leucocyte antigen (HLA) region on chromosome 6p21 encodes the most highly polymorphic loci in the human genome, encoding genes with central roles in the immune function where HLA loci are strongly associated with various immune-mediated diseases
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Investigation of cytokine polymorphisms on viral infections after renal transplantation exhibit association between IFN-γ +874 A > T and CMV manifestations Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-10-03 Stéphanie Gomes Santos de Almeida, Fabiana Batalha Knakcfuss, Lívia Maria Assis, Regina Celia Gonçalves de Sousa, Tereza Azevedo Matuck, Deise de Boni Monteiro de Carvalho, Ricardo Luiz Dantas Machado, Maria Angelica Arpon Marandino Guimarães, Rafael Brandão Varella
We investigated the effects of TNF-α, IFN-γ, IL-10 polymorphisms on viral infections (CMV, BKPyV, HHV-6, EBV) after renal transplantation. IFN-γ+874 A > T (lower IFN production) was associated with CMV disease (p = .039) in patients under mycophenolate-based therapy and graft failure (p = .025). This study underscores the role of IFN-γ+874 SNP in CMV infection.
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Abstracts from the 32nd BSHI Annual Conference (2022), 13 September 2022, Birmingham. Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-09-01
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Genetic associations with lymphomas in Polish patients: A pooled-DNA genome-wide association analysis Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-08-29 Ewa Paszkiewicz-Kozik, Anna Kluska, Magdalena Piątkowska, Aneta Bałabas, Natalia Żeber-Lubecka, Jakub Karczmarski, Krzysztof Goryca, Maria Kulecka, Elżbieta Wojciechowska-Lampka, Włodzimierz Osiadacz, Joanna Romejko-Jarosińska, Monika Świerkowska, Agnieszka Paziewska, Filip Ambrożkiewicz, Jan Walewski, Michał Mikula, Jerzy Ostrowski
Several single nucleotide polymorphisms (SNPs) associated with susceptibility to Hodgkin lymphoma (HL) and diffuse large B-cell lymphoma (DLBCL) have been identified. The aim of this study was to identify susceptibility loci for HL and DLBCL in Polish patients. Altogether, DLBCL (n = 218 and HL patients (n = 224) and healthy individuals (n = 1181) were recruited. Lymphoma diagnosis was based on standard
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Association between the interferon-γ +874 T/A polymorphism and susceptibility to systemic lupus erythematosus and rheumatoid arthritis: A meta-analysis Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-08-28 Young Ho Lee, Gwan Gyu Song
We aimed to determine whether the interferon (IFN)-γ +874 T/A polymorphism (rs2430561) is associated with susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). A meta-analysis was conducted to assess the association between the IFN-γ +874 T/A polymorphism and SLE or RA using allele contrast, homozygous contrast, recessive, and dominant models. A total of nine studies (six
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Genetic epidemiology of human neutrophil antigen variants suggests significant global variability Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-08-27 Mercy Rophina, Vinod Scaria
Human neutrophil antigens possess significant clinical implications especially in the fields of transfusion and transplantation medicine. Efforts to estimate the prevalence of genetic variations underpinning the antigenic expression are emerging. However, there lacks a precise capture of the global frequency profiles. Our article emphasizes the potential utility of maintaining an organized online repository
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Angiotensin-converting enzyme 2 rs2285666 polymorphism and clinical parameters as the determinants of COVID-19 severity in Iranian population Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-08-27 Fereshteh Khalilzadeh, Fatemeh Sakhaee, Fattah Sotoodehnejadnematalahi, Mohammad Saber Zamani, Iraj Ahmadi, Enayat Anvari, Abolfazl Fateh
Host genetic factors may be correlated with the severity of coronavirus disease 2019 (COVID-19). Angiotensin-converting enzyme 2 (ACE2) plays a vital role in viral cell entrance. The current study aimed to evaluate the association of ACE2 rs2285666 polymorphism and clinical parameters with COVID-19 mortality. The ACE2 rs2285666 polymorphism was genotyped using the polymerase chain reaction-restriction
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An early evaluation of the HISTO SPOT® AB ID Class I & II test in cardiothoracic transplant patients Int. J. Immunogenet. (IF 2.2) Pub Date : 2022-08-21 James Cashin, Patrick Flynn, Judith Worthington, Marcus Lowe, Andrew Canterbury, Kristin Launhardt, Ian Crosby, Stephen Sheldon, Rajamiyer Venkateswaran, Kay Poulton
The HISTO SPOT®AB ID assay (BAG Diagnostics GmbH) is a novel single antigen HLA Class I & II antibody definition test used with the MR.SPOT® processor. We compared this assay with Luminex®-based assays to assess its potential application in defining unacceptable antigens for transplantation in patients awaiting transplants with cardiothoracic organs. A cohort of 40 sensitized cardiothoracic patients