International Journal of Immunogenetics最新文献

{"title":"Cytokine and IRF5 Gene Polymorphisms Associated With Susceptibility and Organ Damage in Systemic Lupus Erythematosus.","authors":"Ines Allam, Yousra Hassinet, Chahrazad Zeghichi, Lylia Meriem Berkani, Brahim Belaid, Sihem Oulakrouz, Messaoud Saidani, Soraya Ayoub, Reda Djidjik","doi":"10.1111/iji.70016","DOIUrl":"https://doi.org/10.1111/iji.70016","url":null,"abstract":"<p><strong>Background: </strong>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><p><strong>Objective: </strong>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><p><strong>Methods: </strong>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><p><strong>Results: </strong>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 (p = 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 (p = 0.024) and the A allele of -511 C/T polymorphism predisposes to hematological damage (p = 0.041) in lupus patients. Also, the A allele of the TNFα -238 G/A polymorphism was associated with neuropsychiatric impairment (p = 0.036) and the A allele of -251A/T SNP of the IL-8 gene to the joint damage (p = 0.04).</p><p><strong>Conclusion: </strong>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>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70016"},"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, Yee-How Say","doi":"10.1111/iji.70018","DOIUrl":"https://doi.org/10.1111/iji.70018","url":null,"abstract":"<p><p>Over the years, accumulating evidence has been associating interleukin-13 gene (IL-13) 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 (p_z < 0.05, p_res > 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":" ","pages":"e70018"},"PeriodicalIF":1.1,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New Evidence of TLR4 and TLR9 Variants Influencing Parasitaemia and Symptoms of Plasmodium vivax Infection.","authors":"Mikaele Monik Rodrigues Inácio Silva, Gabriela Maria Andrade Correia, Juliana Dal-Ri Lindenau, Maristela Gomes Cunha, Maria Deise Oliveira Ohnishi, Ana Maria Revoredo Silva Ventura, Ândrea Ribeiro-Dos-Santos, Mara Helena Hutz, Vinicius Albuquerque Sortica","doi":"10.1111/iji.70014","DOIUrl":"https://doi.org/10.1111/iji.70014","url":null,"abstract":"<p><p>Toll-like receptors (TLRs) induce the production of pro-inflammatory cytokines and regulate the immune response to Plasmodium vivax infection. Genetic variants of TLRs are associated with susceptibility and severity of malaria in different populations. This study aimed to evaluate the association between polymorphisms in TLR1, TLR4, TLR7, TLR8, TLR9 and TIRAP and the clinical manifestations of malaria caused by P. vivax in a population from the Amazon region of Pará, Brazil. A total of 148 individuals with symptomatic uncomplicated malaria were genotyped for rs4833095, rs1927911, rs179008, rs3764880, rs352140 and rs8177374 variants, and their associations with parasitaemia levels, gametocytaemia and clinical index were analysed using generalised linear models. TLR9 rs352140TT homozygotes had higher parasitaemia levels than C allele carriers (p = 0.034). TLR4 rs1927911GG homozygotes had a higher clinical index than A allele carriers (p = 0.018). Our results describe, for the first time, the association of the rs1927911 variant found in intron 1 of TLR4 with P. vivax malaria symptoms in Brazilian Amazonian population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70014"},"PeriodicalIF":1.1,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080560","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":"HLAtools, Searching Shared HLA Amino Acid Residue Prevalence, and the Global Frequency Browsers: New Computational Resources for Working With HLA Data and Visualizing Global Patterns of HLA Variation.","authors":"Livia Tran, Ryan Nickens, Vinh Luu, Effie W Petersdorf, Steven J Mack","doi":"10.1111/iji.70013","DOIUrl":"https://doi.org/10.1111/iji.70013","url":null,"abstract":"<p><p>The highly polymorphic HLA genes inform susceptibility and resistance to infectious and autoimmune diseases and cancers and are key for successful solid-organ and stem-cell transplantation therapies. Over 41,000 HLA alleles are known and are unevenly distributed across the human population. Here, we describe HLAtools, Searching Shared HLA Amino-Acid Residue Prevalence (SSHAARP) and the Global Frequency Browser (GFB), new informatic tools developed to facilitate working with HLA data and visualizing the global distribution of HLA variants in human populations. HLAtools is an R package that consumes static resources for HLA alleles and sequences and makes these data locally computable alongside data-query, data-customization and data-analysis functions. The package further includes new reference datasets that dissect and catalogue HLA regions and HLA gene structures and provide insight into the organization of HLA pseudogenes and gene fragments. SSHAARP is an R package that describes the frequency distributions of individual HLA haplotypes, alleles and amino-acid motifs as global heatmaps. Allele frequency maps for more than 800 HLA alleles can be browsed using the GFB web and mobile applications. HLAtools and SSHAARP are available from the Comprehensive R Archive Network, and the GFB apps are available on GitHub.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70013"},"PeriodicalIF":1.1,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145064632","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":"Abstract","authors":"","doi":"10.1111/iji.70006","DOIUrl":"https://doi.org/10.1111/iji.70006","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 S1","pages":"S3-S16"},"PeriodicalIF":1.1,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144930068","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 Association of IL-17RC Polymorphisms rs708567 and rs76999397 With Acute Lymphoblastic Leukaemia.","authors":"Ali Aljuaimlani, Lamjed Mansour, Jameel Al-Tamimi, Jamilah Alshammari, Safa A Alqarzae, Fadwa M Alkhulaifi, Suliman Alomar","doi":"10.1111/iji.70012","DOIUrl":"https://doi.org/10.1111/iji.70012","url":null,"abstract":"<p><strong>Background: </strong>Acute lymphoblastic leukaemia (ALL) is characterized by the clonal proliferation of immature lymphoid precursors in the bone marrow or peripheral blood. This study investigates whether genetic polymorphisms in IL-17RC are associated with an increased risk of ALL in the Saudi population.</p><p><strong>Methods: </strong>This case-control study included 95 patients with ALL and 95 matched controls. Genetic polymorphisms and their associations with ALL risk were identified using logistic regression analysis. Additionally, quantitative real-time polymerase chain reaction (qRT-PCR) was used to assess the level of IL-17RC mRNA.</p><p><strong>Results: </strong>The results revealed that carriers of the GA and AA genotypes of rs76999397 had a significantly increased risk of ALL (GA: odds ratios [OR] = 63.78, 95% confidence interval [CI] = 25.51-159.43, p < 0.0001; AA: OR = 18.22, 95% CI = 1.50-221.37, p < 0.0001). Additionally, we identified that an increased risk of ALL was associated with two haplotypes in IL-17RC, C-A and T-A (in the order of rs708567 and rs76999397) (OR = 46.73, 95% CI = 17.30-126.28; OR = 49.42, 95% CI = 6.95-351.45, respectively).</p><p><strong>Conclusions: </strong>The results suggested that the GA and AA genotypes of rs76999397 were significantly associated with an increased risk of ALL, whereas rs708567 did not show a significant association. Furthermore, the CA and TA haplotypes (rs708567/rs76999397) were found to be associated with increased susceptibility to ALL.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70012"},"PeriodicalIF":1.1,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953374","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":"A Prospective Pilot Study to Investigate Whether Donor-Derived Cell-Free DNA Can Be Used as a Biomarker of Recurrent IgA Nephropathy Post-Kidney Transplantation.","authors":"Judith Owusuwaah Asiedu-Basoah, Stephen Weston, Jonathan Barratt, Justyna Szklarzewicz, Paul Dunn","doi":"10.1111/iji.70010","DOIUrl":"https://doi.org/10.1111/iji.70010","url":null,"abstract":"<p><p>IgA nephropathy (IgAN) is one of the most prevalent glomerulonephropathies and commonly leads to kidney failure. The recurrence of IgAN following transplantation remains a significant concern. Currently, detecting IgAN recurrence requires a kidney biopsy, highlighting the need for non-invasive biomarkers such as donor-derived cell-free DNA (dd-cfDNA) to aid in early detection. This prospective pilot study aims to evaluate dd-cfDNA as a non-invasive biomarker for detecting IgAN recurrence post-kidney transplantation. Specifically, the study seeks to compare %dd-cfDNA levels in transplanted patients with and without IgAN recurrence and correlate these levels with other kidney function parameters. A total of 32 patients with histologically confirmed IgAN were enrolled, including those with documented IgAN recurrence post-transplantation and those without recurrence. Plasma samples were collected and processed using the AlloSeq cfDNA kit to quantify relative %dd-cfDNA levels. Kidney function parameters, including estimated glomerular filtration rate (eGFR) and proteinuria, were also assessed. The study found no significant difference in %dd-cfDNA levels between transplanted patients with IgAN recurrence and those without recurrence (median 0.37% [IQR 0.28%-3.53%] vs. median 0.42% [IQR 0.15%-0.84%], p = 0.67). Also, %dd-cfDNA (AUC = 0.57 [95% CI 0.28-0.85], p = 0.64) failed to effectively discriminate IgAN recurrence compared to traditional kidney function parameters such as proteinuria (AUC = 0.96 [95% CI 0.87-1.00], p = 0.002) and eGFR (AUC = 0.74 [95% CI 0.47-1.00], p = 0.09). Relative (%) dd-cfDNA alone may not be a robust biomarker for detecting IgAN recurrence post-transplantation. While proteinuria proved a more effective indicator in this study, kidney biopsy remains the gold standard for definitive diagnosis. These findings highlight the challenges of using %dd-cfDNA as a standalone diagnostic tool for monitoring IgAN recurrence post-transplantation. Future research should explore larger patient cohorts and longitudinal assessments to refine the utility of dd-cfDNA and investigate potential combination strategies with other biomarkers.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70010"},"PeriodicalIF":1.1,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953300","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":"Risk Genes and Anti-C1q Autoantibodies in Upper Egyptian Patients With Systemic Lupus Erythromatosis-High Frequency of HLA-DRB1*04:05-DQA1*03-DQB1*02 Risk Haplotype in Lupus Nephritis Patients.","authors":"Mostafa I El-Amir, Mohamed Ali El-Feky, Abdelkader Ahmed Hashim, Mohammed H Hassan, Marwa Abdelhady, Wael Abd El Mohsen Abady, Amr Mohamed ElKaber, Jorma Ilonen","doi":"10.1111/iji.70009","DOIUrl":"https://doi.org/10.1111/iji.70009","url":null,"abstract":"<p><p>This study was performed to determine anti-C1q serum level, genetic polymorphism in cytotoxic T lymphocyte-associated antigen 4 gene (CTLA-4 gene) (rs 231775), and HLA class II genes in susceptibility and early prediction of systemic lupus erythematosus (SLE) and lupus nephritis (LN) in Upper Egyptian patients. A total of 60 unrelated cases of SLE (30 cases with LN) and 60 healthy controls were studied for HLA-DQB1, HLA-DQA1, and HLA-DRB1 (DR4 subtypes) alleles. Anti-C1q level was estimated by ELISA. CTLA-4 gene genotypes were detected by PCR-RFLP. The means of age of SLE patients without nephritis and LN patients were 24 ± 5.09 and 32 ± 7.26, respectively. Most of the patients were females (93.3%). Anti-C1q serum level was significantly higher in LN patients (24.11 ± 4.26) versus SLE patients without nephritis (18.17 ± 1.35) (p value < 0.001). The AA genotype of the CTLA-4 gene was significantly higher in patients with LN versus SLE patients without nephritis (53.5% vs. 26.5%; p value = 0.035). (DR7)-DQA1*02-DQB1*0303 haplotype was higher in SLE patients versus the control group and showed the highest odds ratio (7.37) with a significant p value (0.031). Odds ratios of DRB1*0405-DQA1*03-DQB1*0302 and DRB1*0405-DQA1*03-DQB1*02 were 6.263 and 4.214, respectively. DRB1*0405-DQA1*03-DQB1*02 haplotype was detected in 11.7% of LN patients versus 1.7% of SLE patients without nephritis (OR = 8.82, p value = 0.02). DRB1*0405-DQA1*03-DQB1*02 haplotype, in addition to CTLA-4 gene (AA genotype), and high anti-C1q serum level can predict the progression of SLE Upper Egyptian patients to LN.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70009"},"PeriodicalIF":1.1,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953343","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 April, May and June 2025","authors":"Steven G. E. Marsh,&nbsp;for the WHO Nomenclature Committee for Factors of the HLA System","doi":"10.1111/iji.70005","DOIUrl":"10.1111/iji.70005","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 5","pages":"278-310"},"PeriodicalIF":1.1,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698451","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":"Polymorphism Analysis as Biomarker in Genes AIRE, CD40, HLA-DRB1 and TRAF1/C5 SNPs in Rheumatoid Arthritis Patients","authors":"Yalong Liu,&nbsp;Ayesha Chaudhary,&nbsp;Kanza Quddus,&nbsp;Mehwish Aslam,&nbsp;Anisa Iftikhar,&nbsp;Azmat Ali Khan,&nbsp;Amer M. Alanazi,&nbsp;Kashif Bashir","doi":"10.1111/iji.70007","DOIUrl":"10.1111/iji.70007","url":null,"abstract":"<div>\u0000 \u0000 <p>The main objective of the study was to determine the association of genes <i>AIRE</i> (rs2075876), <i>CD40</i> (rs4810485), <i>HLA-DRB1</i> (rs6457617) and <i>TRAF1/C5</i> (rs10818488) polymorphisms with rheumatoid arthritis (RA) from the population of Pakistan. Blood samples of 300 RA patients and 300 healthy controls were taken from different hospitals in Pakistan. Extraction of DNA was carried out; a specific region of DNA was amplified using PCR. Polymorphic analysis was performed for genes <i>AIRE</i> (rs2075876), <i>CD40</i> (rs4810485), <i>HLA-DRB1</i> (rs6457617) and <i>TRAF1/C5</i> (rs10818488). The demographic parameters, like age, showed statistically significant association and increased the risk of the disease up to 2-fold (odds ratio [OR] = 2.57; 95% confidence interval [CI] = 1.60–4.12; <i>p</i> = 0.0001). Gender and family history did not show any significant association with arthritis (OR = 1.12; 95% CI = 0.69–1.81; <i>p</i> = 0.6260; OR = 0.70; 95% CI = 0.44–1.11; <i>p</i> = 0.1313, respectively). In the case of smoking status, the difference was statistically significant for both smokers and non-smokers. In smokers, there was a decreased risk of RA (OR = 0.45; 95% CI = 0.28–0.73; <i>p</i> = 0.0011), and in non-smokers, there was an increased risk of disease up to 2-fold (OR = 2.17; 95% CI = 1.36–3.47; <i>p</i> = 0.0011). In <i>AIRE</i> gene, heterozygous (AG) of rs2075876 showed a highly significant association with increased risk of RA up to 3-fold (OR = 3.39; 95% CI = 2.08–5.54; <i>p</i> = 0.0001), whereas homozygous mutant (GG) also showed significant association (OR = 0.43; 95% CI = 0.26–0.72; <i>p</i> = 0.0014) but with decreased risk. In <i>CD40</i> gene, heterozygous (AG) of rs4810485 showed significant association with a decreased risk of RA (OR = 0.59; 95% CI = 0.377–0.945; <i>p</i> = 0.027), whereas the homozygous mutant (GG) of rs4810485 showed highly significant association by increasing risk of up to 4-fold (OR = 4.318; 95% CI = 2.553–7.303; <i>p</i> = 0.0001). In <i>HLA-DRB1</i> gene, heterozygous (CT) of rs6457617 showed significant association with a decreased risk of disease (OR = 0.52; 95% CI = 0.35–0.85; <i>p</i> = 0.007), whereas the homozygous mutant (TT) of rs6457617 showed highly significant association by increasing the risk of RA up to 4-fold (OR = 4.37; 95% CI = 2.55–7.47; <i>p</i> = 0.0001). In the <i>TRAF1/C5</i> gene, heterozygosity (AG) of rs10818488 showed a significant association with an increased risk of disease up to 4-fold (OR = 4.06; 95% CI = 2.38–6.98; <i>p</i> = 0.0001). Highly significant associations of genes <i>AIRE</i> (rs2075876), <i>CD40</i> (rs4810485), <i>HLA-DRB1</i> (rs6457617) and <i>TRAF1/C5</i> (rs10818488) polymorphisms were observed with RA.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 5","pages":"262-273"},"PeriodicalIF":1.1,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690135","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}