International Journal of Immunogenetics最新文献

{"title":"Study of Interferon-Induced Transmembrane Protein 3 Gene Polymorphism and Serum Interferon-λ3 Level in COVID-19","authors":"Rana Saudi,&nbsp;Heba Kamal,&nbsp;Iman Elshabrawy,&nbsp;Ali Sobh,&nbsp;Marwa H. Elnagdy","doi":"10.1111/iji.70024","DOIUrl":"10.1111/iji.70024","url":null,"abstract":"<div>\u0000 \u0000 <p>Background: Variations in individuals’ susceptibility to coronavirus disease 2019 may be linked to the presence of genetic polymorphisms. The interferon-induced transmembrane 3 (IFITM3) has a powerful protective function by blocking viral entry into the host cell. Similarly, Interferon Lambda 3 (IFNL3) binds to its receptors and induces a variety of interferon-stimulated genes (ISGs) that inhibit viral replication. Our study aimed to investigate the potential association of <i>IFITM3</i> gene polymorphism (rs12252) as well as serum IFNL3 level with COVID-19 infection, severity, and mortality.</p>\u0000 <p>Method: This case-control study was held during the period from July 2021 to October 2022 in Mansoura University hospitals in Egypt. We included 100 healthy controls and 154 COVID-19 patients. TaqMan real-time polymerase chain reaction was used for allelic discrimination in the genotyping of rs12252 of the <i>IFITM3</i> gene. Serum IFNL-3 was assayed using the ELISA technique.</p>\u0000 <p>Results: The genotype and allele frequency distributions of the rs12252 showed that the frequency of the G allele and AG/GG genotypes was significantly higher in patients than in controls, with no significant association with either disease severity or outcome. Serum IFNL3 level is significantly higher among patients, with no statistically significant difference between mild and severe cases and no significant association with the outcome of COVID-19.</p>\u0000 <p>Conclusion: We found that the AG genotype and G allele of <i>IFITM3</i> rs12252 are associated with COVID-19 infection in the Egyptian population but not with severity or outcome. Additionally, serum IFNL3 level is significantly associated with COVID-19 susceptibility but not with severity. It is associated with tachypnea and end-organ failure in severe cases. So, they are independent predictors only for developing COVID-19 infection, but not for developing severe infection.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"41-53"},"PeriodicalIF":1.1,"publicationDate":"2025-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145458618","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":"Revisiting the Smoking-Rheumatoid Arthritis Relationship Unraveling an Unexpected Protective Effect in a Pakistani Cohort","authors":"Rong-Min Xu,&nbsp;An-Hua Zheng,&nbsp;Shun-Dong Li,&nbsp;Lian-Ping He","doi":"10.1111/iji.70019","DOIUrl":"10.1111/iji.70019","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"69-70"},"PeriodicalIF":1.1,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145437678","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":"Non-Association of Smoking With RA","authors":"Kashif Bashir","doi":"10.1111/iji.70026","DOIUrl":"10.1111/iji.70026","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"71-72"},"PeriodicalIF":1.1,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145437696","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":"Association of SOCS6 Gene Polymorphisms and Promoter Hypermethylation With the Progression of Hepatitis B Virus Infection","authors":"Nguyen Viet Phuong,&nbsp;Pham Van Dung,&nbsp;Le Quang Nhut,&nbsp;Le Van Khanh,&nbsp;Tran Thi Phuong Thao,&nbsp;Ngo Thu Hang,&nbsp;Nguyen Duc Ky,&nbsp;Nguyen Minh Hai,&nbsp;Nguyen Xuan Khai,&nbsp;Tran Viet Tien,&nbsp;Can Van Mao,&nbsp;Nguyen Linh Toan,&nbsp;Hoang Van Tong","doi":"10.1111/iji.70023","DOIUrl":"10.1111/iji.70023","url":null,"abstract":"<div>\u0000 \u0000 <p>Chronic hepatitis B (CHB) is a major risk factor for liver cirrhosis (LC) and hepatocellular carcinoma (HCC). Genes involved in the JAK/STAT signalling pathway play a critical role in the pathogenesis of HBV-related liver diseases, especially HCC. Although <i>SOCS1</i> and <i>SOCS3</i> have been extensively studied, the role of SOCS6 in HBV infection and disease progression remains unclear. This study aimed to investigate the association between <i>SOCS6</i> gene polymorphisms and promoter methylation with HBV-related liver diseases.</p>\u0000 <p>This study examined <i>SOCS6</i> gene polymorphisms in a cohort of 335 patients with HBV-related liver diseases (120 with CHB, 100 with LC and 115 with HCC) and 120 healthy controls (HCs). In addition, <i>SOCS6</i> promoter methylation was analysed in tumour and adjacent tissues from 41 HCC patients.</p>\u0000 <p>We found that the <i>rs2062345GA</i> genotype and the dominant genetic model were associated with an increased risk of HBV infection and HCC. The <i>rs7228049GA</i> genotype increased the risk of LC and HCC. Conversely, the <i>rs7228049AA</i> genotype and the recessive model were associated with a reduced risk of CHB, LC and HCC. The SNPs rs2062345, rs7228049 and rs11151580 were related to several clinical parameters such as AST, albumin and prothrombin levels, platelet counts in LC and HCC patients. Promoter hypermethylation of <i>SOCS6</i> was more prevalent in tumour tissues, especially in larger tumours with poorer histological differentiation (<i>p </i>&lt; 0.01 and <i>p </i>&lt; 0.05, respectively).</p>\u0000 <p><i>SOCS6</i> gene variants and promoter methylation are associated with susceptibility and progression of HBV-related liver diseases. These findings suggest their potential utility as useful prognostic biomarkers for HCC.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"30-40"},"PeriodicalIF":1.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145421595","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":"Unaddressed Confounding Factors Undermine Causal Inference in the Study on IL-6 Promoter Region Polymorphism and Type 2 Diabetes Mellitus in an Egyptian Centre","authors":"Hua-Qin Su,&nbsp;Ling-Su Wang,&nbsp;Lian-Ping He","doi":"10.1111/iji.70017","DOIUrl":"10.1111/iji.70017","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"65-66"},"PeriodicalIF":1.1,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145389112","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":"Response to “Unaddressed Confounding Factors Undermine Causal Inference in the Study on IL-6 Promoter Region Polymorphism and Type 2 Diabetes Mellitus in an Egyptian Centre”","authors":"Maysaa El Sayed Zaki,&nbsp;M. M. Motawea,&nbsp;A. M. Faheem,&nbsp;M. S. Ismail,&nbsp;N. T. A. El-Khier,&nbsp;A. M. Nada","doi":"10.1111/iji.70022","DOIUrl":"10.1111/iji.70022","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"67-68"},"PeriodicalIF":1.1,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145389071","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":"An NLRP3 Variant Protects Against Severe COVID-19: An Unexpected Contribution of Inflammasome Genetics in SARS-CoV-2 Infection","authors":"Leandro Martin Paulino,&nbsp;Vinicius Nunes Cordeiro Leal,&nbsp;Wellyngton Matheus de Souza Santiago,&nbsp;Débora de Fátima Almeida Donanzam,&nbsp;Célio Roberto Siqueira Ledesma,&nbsp;Maria Fernanda Silva Bertelli,&nbsp;Wellington Santos Fava,&nbsp;Ana Carla Pereira Latini,&nbsp;Alessandra Pontillo,&nbsp;James Venturini","doi":"10.1111/iji.70021","DOIUrl":"10.1111/iji.70021","url":null,"abstract":"<div>\u0000 \u0000 <p>COVID-19, caused by the SARS-CoV-2 virus, manifests with varying degrees of severity, affecting individuals worldwide. The spectrum of symptoms ranges from mild to severe, with respiratory failure being a leading cause of death. Immunological factors, particularly excessive cytokine production such as IL-18 and IL-1β, significantly contribute to disease severity. In this context, the NLRP3 inflammasome, a key component of the innate immune system, has influenced COVID-19 outcomes. This study investigated the association between single-nucleotide variants (SNVs) in the NLRP3 inflammasome and COVID-19 severity. A case–control study was conducted involving 800 adult participants infected with SARS-CoV-2, stratified into mild/moderate and severe/critical cases. Genetic associations were assessed through qPCR-based genotyping. While no association was found between SNVs in IL1B and CASP1 with COVID-19 severity, the multivariate analysis revealed that the gain-of-function SNV in the NLRP3 gene (rs35829419) was associated with a protective effect against COVID-19–related mortality. These findings suggest that genetic variations in the NLRP3 inflammasome may modulate the host response to SARS-CoV-2, highlighting potential biomarkers for disease prognosis.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 1","pages":"23-29"},"PeriodicalIF":1.1,"publicationDate":"2025-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145377281","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":"Nomenclature for Factors of the HLA System, Update July, August and September 2025","authors":"Steven G. E. Marsh","doi":"10.1111/iji.70020","DOIUrl":"10.1111/iji.70020","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 6","pages":"388-431"},"PeriodicalIF":1.1,"publicationDate":"2025-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145368036","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":"Cytokine and IRF5 Gene Polymorphisms Associated With Susceptibility and Organ Damage in Systemic Lupus Erythematosus","authors":"Ines Allam,&nbsp;Yousra Hassinet,&nbsp;Chahrazad Zeghichi,&nbsp;Lylia Meriem Berkani,&nbsp;Brahim Belaid,&nbsp;Sihem Oulakrouz,&nbsp;Messaoud Saidani,&nbsp;Soraya Ayoub,&nbsp;Reda Djidjik","doi":"10.1111/iji.70016","DOIUrl":"10.1111/iji.70016","url":null,"abstract":"<div>\u0000 \u0000 <p><b>Background</b>: Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease resulting from the complex interplay between genetic, environmental, and immunological factors. Genetic polymorphisms in cytokine and transcription factor genes have been proposed as key contributors to disease susceptibility and clinical heterogeneity.</p>\u0000 <p><b>Objective</b>: To evaluate the association between selected single nucleotide polymorphisms (SNPs) in TNF-α, IL-1, IL-8, and IRF5 genes and the risk of SLE, as well as their correlation with specific organ system involvement.</p>\u0000 <p><b>Methods</b>:We conducted a case-control study including 156 SLE patients and 104 healthy controls from the Algerian population. Seven SNPs were genotyped using TaqMan assays: IL-1 (-31 C/T and -511 C/T), TNF-α (-308 G/A and -238 G/A), IL-8 (-251 A/T), and IRF5 (-13176 A/C and -3835 G/T). Genotype and allele frequencies were compared between groups and correlated with clinical phenotypes.</p>\u0000 <p><b>Results</b>:The immunogenetic study revealed a significant association between G allele of the -3835 G/T polymorphism of the IRF5 gene and the risk of genetic susceptibility to the lupus (<i>p</i> = 0.012). Stratification according to clinical manifestations has showed that the G allele of the -31 C/T polymorphism of the IL-1 gene is associated with joint damage (<i>p</i> = 0.024) and the A allele of -511 C/T polymorphism predisposes to hematological damage (<i>p</i> = 0.041) in lupus patients. Also, the A allele of the TNFα -238 G/A polymorphism was associated with neuropsychiatric impairment (<i>p</i> = 0.036) and the A allele of -251A/T SNP of the IL-8 gene to the joint damage (<i>p</i> = 0.04).</p>\u0000 <p><b>Conclusion</b>:Our findings support a role for IRF5 and cytokine gene polymorphisms in the genetic predisposition to SLE and its clinical manifestations. These polymorphisms may serve as potential biomarkers for disease risk stratification and personalized patient management, particularly in underrepresented populations such as North Africans.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 6","pages":"379-387"},"PeriodicalIF":1.1,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212625","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":"Association of IL-13 Gene Polymorphism (rs20541) With Chronic Inflammatory Diseases: A Systematic Review and Meta-Analysis","authors":"Geetha Letchumanan,&nbsp;Yee-How Say","doi":"10.1111/iji.70018","DOIUrl":"10.1111/iji.70018","url":null,"abstract":"<p>Over the years, accumulating evidence has been associating interleukin-13 gene (<i>IL-13</i>) variants with a wide array of chronic inflammatory diseases. Also, recent findings have associated the potential role of a single nucleotide polymorphism (SNP) of IL-13, rs20541, to promote either anti- or pro-inflammatory responses in chronic inflammatory diseases. Although rs20541 has been widely associated with various immune-related and inflammatory conditions, its precise functional relevance in the pathogenesis of human diseases has yet to be fully clarified. Nonetheless, its consistent associations and known effects on IL-13 signalling underscore its potential biological importance. Hence, this meta-analysis aimed to investigate the associations between IL-13 SNP rs20541 with distinct groups of chronic inflammatory diseases. Eligible studies were selected from seven databases including PubMed, EBSCO Host (all databases), Medline, CINAHL Plus, Scopus, SNPedia and GWAS. In total, 45 case–control studies with 16,045 cases and 23,312 controls were categorised into four major groups: atopic, cardiopulmonary and autoimmune diseases as well as cancer and tumour. While no consistent associations emerged for asthma or overall atopic and cardiopulmonary groups, protective associations for psoriasis and glioma were observed across multiple genetic contrasts. The A allele of rs20541 was significantly associated with higher risk of chronic obstructive pulmonary diseases (COPDs) [1.17 (1.03–1.32)] but reduced risk of cardiovascular diseases (CVDs) [0.87 (0.75–1.00)], psoriasis [allele model: 0.71 (0.65–0.77); dominant model: 0.69 (0.62–0.76)], overall cancer [allele model: 0.82 (0.66–0.98); dominant model: 0.82 (0.67–0.98) and glioma [allele model: 0.82 (0.68–0.95); dominant model: 0.72 (0.57–0.87)]. In subgroup analysis and meta-regression, sources of between-study heterogeneity were associated with ethnicity, age, gender and sample size in respective disease groups (<i>p</i>_z &lt; 0.05, <i>p</i>_res &gt; 0.05). Overall, this meta-analysis demonstrates that IL-13 rs20541 is a key immunogenetic variant exerting context-dependent effects, either via direct lgE-dependent or indirect regulatory effects across chronic inflammatory diseases. These mechanistic differences help explain why rs20541 confers susceptibility in some diseases while providing protection in others, reflecting the pleiotropic and tissue-specific functions of IL-13. Future research should integrate transcriptional studies and eQTL analyses of rs20541 to clarify its downstream impact on inflammation-specific genes, ultimately informing cytokine-targeted therapies to more precisely manage and prevent chronic inflammatory disease.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 6","pages":"313-334"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199201","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}