International Journal of Immunogenetics最新文献

{"title":"Fine-Scale Mapping of HLA-C Haplotype Structural Diversity Using SNP Crossover Regions Flanked by Transposable Element Markers in Homozygous Cell Lines","authors":"Jerzy K. Kulski","doi":"10.1111/iji.70029","DOIUrl":"10.1111/iji.70029","url":null,"abstract":"<div>\u0000 \u0000 <p>Background/Objectives: The human major histocompatibility complex (MHC) is characterized by extreme polymorphism, with HLA-C contributing to pathogen defence, disease susceptibility, and transplantation outcomes. Beyond allelic diversity, and variation, the evolutionary restructuring of haplotypes influences functional diversity across the region. This study analysed HLA-C haplotypes in the context of transposable element (TE) architecture and single-nucleotide polymorphism (SNP) patterns to identify conserved modules and ancestral recombination boundaries.</p>\u0000 <p>Methods: Paired genomic alignments of fully phased homozygous lymphoblastoid cell lines carrying 36 haplotypes of HLA-C*01–C*07, C*12, and C*16 allelic groups were performed using Mauve to define locally co-linear blocks. SNP density plots were generated to visualize transitions between SNP-rich and SNP-poor regions. Six diverse HLA-C*07 haplotypes (linked to HLA-B*07, *08, *18, *49, *57 and *58) were examined as a primary case study. Particular focus was placed on crossover zones where SNP transitions coincided with TE boundaries, indicating putative ancestral recombination breakpoints.</p>\u0000 <p>Results: Comparative analyses revealed extensive structural variation among C*07 haplotypes and across the broader C*01–C*16 series. The C*07:02 homologs exhibited significantly higher SNP density (mean = 1.87 ± 0.44 SNPs/kb, <i>n</i> = 10) than C*07:01 and C*07:18 homologs (mean = 0.29 ± 0.21 SNPs/kb, <i>n</i> = 20; <i>p</i> &lt; 0.001). Abrupt SNP transitions frequently aligned with SINE, LINE, and LTR elements (e.g., Alu, L1, L2, HERV), marking recurrent TE-associated junctions. These breakpoints defined shared homozygous HLA-C segments spanning ∼4 kb to ∼4 Mb, consistent with mosaic haplotype evolution through recombination of conserved modules.</p>\u0000 <p>Conclusions: HLA-C haplotypes exhibit modular mosaic structures shaped by recurrent recombination at TE-associated crossover zones. Thus, MHC haplotypes may share the same HLA-C allele, yet differ in the surrounding HLA-B and class I genomic organization, preserving or disrupting co-adapted functional units. Incorporating haplotypic mosaicism, rather than focusing solely on allelic polymorphism, may improve models of immune variation, disease risk, and translation matching.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"127-143"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145633148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the Genetic Insights Into Leprosy: An Updated Meta-Analysis of Interleukin-10 Variants","authors":"Jayakumar Veeraraghavan,&nbsp;Sharon Benita Stephen,&nbsp;Meenakshi Narasimhan,&nbsp;Lakshmi Kanakaraj","doi":"10.1111/iji.70031","DOIUrl":"10.1111/iji.70031","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>This meta-analysis aims to evaluate the association between interleukin-10 (IL-10) −819 C/T (rs1800871), −592 C/A (rs1800872) and −1082 A/G (rs1800896) polymorphisms and leprosy susceptibility by analyzing multiple genetic models in the Asian and Caucasian populations. A systematic literature search was conducted in PubMed, Web of Science, Google Scholar and Embase (January 2001 to February 2025) following PRISMA guidelines. Case-control studies reporting genotype distributions for IL-10 polymorphisms in leprosy cases and controls were included. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated under allelic, recessive, dominant and over-dominant models. Heterogeneity was assessed using Cochran's Q test and the I² statistic. Publication bias was evaluated using Egger's test and funnel plots. A total of 13 studies were included, comprising 5509 leprosy cases and 8135 controls. The −1082 A/G variant exhibited a significant protective effect across allelic (A vs. G OR = 0.73, 95% CI 0.59–0.91, <i>p</i> = 0.005), dominant (AA+AG vs. GG OR = 0.45, 95% CI 0.25–0.80, <i>p</i> = 0.006) and the over-dominant models (AG vs. AA+ GG OR = 0.45, 95% CI 0.25–0.80, <i>p</i> = 0.006). Under the dominant model, the −819 C/T (CC+CT vs. TT OR = 0.76, 95% CI 0.61–0.96, <i>p</i> = 0.02) and −592 C/A (CC+CA vs. AA OR = 0.71, 95% CI 0.52–0.97, <i>p</i> = 0.03) polymorphisms also showed significant protective effects, suggesting a potential role of heterozygosity in reducing leprosy susceptibility. Subgroup analysis indicated stronger protective effects in Asians. Power analysis confirmed that the included studies had sufficient sample sizes to detect significant associations (α error probability &lt; 0.05). This meta-analysis supports the protective role of IL-10 polymorphisms, particularly the −1082 A (rs1800896) allele, in reducing leprosy susceptibility. These findings underscore the role of genetic variation in disease susceptibility and suggest that IL-10 polymorphisms could serve as biomarkers for leprosy susceptibility.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"83-97"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70031","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145714464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 3","pages":"240-247"},"PeriodicalIF":1.1,"publicationDate":"2026-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148069713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 3","pages":"259-267"},"PeriodicalIF":1.1,"publicationDate":"2026-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148070311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 3","pages":"268-274"},"PeriodicalIF":1.1,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148061789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 3","pages":"248-258"},"PeriodicalIF":1.1,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148091433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 3","pages":"294-297"},"PeriodicalIF":1.1,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148099988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Potential Interaction Between Vitamin D Deficiency and FokI Genotypes in Influencing Diabetic Retinopathy Risk","authors":"Ya-Qi Chen,&nbsp;Rong-Rong Zhou,&nbsp;Ling-Ling Zhou,&nbsp;Lian-Ping He","doi":"10.1111/iji.70015","DOIUrl":"10.1111/iji.70015","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"63-64"},"PeriodicalIF":1.1,"publicationDate":"2025-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of TLR4 rs41426344 Polymorphism on Ankylosing Spondylitis Disease Activity: A Study in Turkish Patients","authors":"Duygu Kirkik,&nbsp;Sevgi Kalkanli Tas,&nbsp;Betül Dogantekin,&nbsp;Mesut Kariksiz,&nbsp;Barış Gündogdu,&nbsp;Fatih Hacimustafaoglu,&nbsp;Rahime Aksoy","doi":"10.1111/iji.70027","DOIUrl":"10.1111/iji.70027","url":null,"abstract":"<div>\u0000 \u0000 <p>Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the axial skeleton and sacroiliac joints, with both genetic and environmental factors playing a role in its pathogenesis. Toll-like receptor 4 (TLR4) has been implicated in immune response and inflammation, but its genetic variations have not been extensively studied in AS. This study investigates the association between the TLR4 rs41426344 polymorphism and AS susceptibility and disease activity in a Turkish population. A total of 200 participants (100 AS patients and 100 healthy controls) were recruited. Genotyping of the TLR4 rs41426344 (G/C) polymorphism was performed using real-time PCR melting curve analysis. Disease activity was assessed using Bath Ankylosing Spondylitis Functional Index (BASFI), Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Ankylosing Spondylitis Disease Activity Score with C-reactive protein (ASDAS-CRP) scores. Statistical analyses were conducted to determine the association between genotypes and disease risk. The CC genotype was significantly associated with AS susceptibility, with an odds ratio (OR) of 10.000 (95% CI: 4.091–24.431, <i>p</i> &lt; 0.0000001), indicating a strong genetic risk factor. Additionally, CC genotype carriers exhibited higher BASFI, BASDAI and ASDAS-CRP scores, suggesting greater disease severity and inflammation levels. A statistically significant difference (<i>p</i> &lt; 0.05) was observed in ASDAS-CRP scores between CC and GC genotypes This is the first study to investigate the TLR4 rs41426344 polymorphism in AS, and our findings indicate a strong association with both disease susceptibility and severity in the Turkish cohort. These findings reinforce the role of innate immunity in AS pathogenesis and suggest that TLR4 polymorphisms may serve as potential genetic markers for AS risk assessment and disease activity monitoring.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"54-62"},"PeriodicalIF":1.1,"publicationDate":"2025-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145549393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and Epigenetic Phenomena in the Neutrophil Developmental Program","authors":"Milena N. Leseva,&nbsp;Petya A. Dimitrova","doi":"10.1111/iji.70025","DOIUrl":"10.1111/iji.70025","url":null,"abstract":"<p>Neutrophils are short-lived innate immune cells, which develop in the bone marrow and replenish daily the circulatory and marginal pools in various organs in the steady state. Recent technological advances have reshaped the traditional paradigms for neutrophil biology and have identified intriguing (epi)genetic phenomena associated with their differentiation, maturation and function. Herein we summarise these developments and discuss: the new model for instructed programming of neutrophil development and continuous cell development via the lineage trajectory path; new aspects of epigenetic regulation of neutrophil development and in particular changes in chromatin structure, 3D architecture as well as heterochromatin condensation during nuclear segmentation; the remarkable breadth of neutrophil heterogeneity and the atypical function of neutrophils acting as antigen-presenting cells. Understanding these concepts can advance the design of new models of in vitro neutrophil generation and drug discovery in immune-mediated disease and cancer where neutrophils play important roles in the pathogenesis.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"1-22"},"PeriodicalIF":1.1,"publicationDate":"2025-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70025","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145481810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}