International Journal of Immunogenetics最新文献

{"title":"Abstract","authors":"","doi":"10.1111/iji.70040","DOIUrl":"10.1111/iji.70040","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 S1","pages":"S3-S18"},"PeriodicalIF":1.1,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70040","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147276021","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":"298-301"},"PeriodicalIF":1.1,"publicationDate":"2026-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148078478","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 October, November and December 2025","authors":"Steven G. E. Marsh","doi":"10.1111/iji.70038","DOIUrl":"10.1111/iji.70038","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"193-228"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146040930","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":"Literature Review: The Role of Non-HLA Antibody in Renal Transplantation","authors":"Charlene Hoad,&nbsp;Judith Worthington,&nbsp;Karen Cosgrove,&nbsp;Olivia Shaw","doi":"10.1111/iji.70037","DOIUrl":"10.1111/iji.70037","url":null,"abstract":"<p>Antibodies directed to mismatched donor human leucocyte antigen (HLA-DSA) play a well-established role in antibody mediated rejection (AMR) and graft failure in kidney transplantation, with their presence being correlated with poorer transplant outcomes. The diagnosis of AMR is based on three criteria: Histologic evidence of acute tissue injury, evidence of current/recent antibody interaction with the donor endothelium and serologic evidence of circulating donor-specific antibody (DSA), HLA and non-HLA. Whilst there is significant evidence around the role of HLA-DSA, there is limited evidence of the role of the latter and the elucidation of these targets is still in its infancy, but it is clear that these may play a significant role in the immune response to a transplanted organ. This literature review aims to summarise what is currently known about the role of non-HLA antibody in renal transplantation.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"118-126"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70037","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933255","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":"Elucidating the Role of Vitamin D Receptor (VDR) Polymorphisms in Genetic Susceptibility to Systemic Lupus Erythematosus: A Case-Control Study From Western India","authors":"Swapnal Pawaskar,&nbsp;Durga Chougule,&nbsp;Amrutha Jose,&nbsp;Anjali Rajadhyaksha,&nbsp;Milind Nadkar,&nbsp;Riddhi Sawardekar,&nbsp;Kirti Rai,&nbsp;Harshada Kharkar,&nbsp;Manisha Madkaikar,&nbsp;Vandana D. Pradhan","doi":"10.1111/iji.70042","DOIUrl":"10.1111/iji.70042","url":null,"abstract":"<div>\u0000 \u0000 <p>Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disorder influenced by genetic and environmental factors. Vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms are suggested to modulate immune dysregulation in SLE. This study aimed to investigate the association of VDR polymorphisms (<i>BsmI</i>, <i>ApaI</i>, <i>TaqI</i> and <i>FokI</i>), serum 25-hydroxyvitamin D [25-OH vitamin D] levels and clinical phenotypes in Indian SLE patients. A hospital-based case–control study was conducted on clinically diagnosed SLE patients (<i>n</i> = 297) fulfilling American College of Rheumatology (ACR) criteria and healthy controls (<i>n</i> = 100). Serum 25-OH vitamin D levels, autoantibody profile and complement components were evaluated by immunofluorescence, enzyme-linked immunosorbent assay (ELISA) and nephelometry. Genotyping for VDR polymorphisms <i>BsmI</i> (rs1544410) B/b, <i>ApaI</i> (rs7975232) A/a, <i>TaqI</i> (rs731236) T/t and <i>FokI</i> (rs2228570) F/f was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Data were statistically analysed using chi-square tests, logistic regression and correlation analysis. The median age at evaluation in SLE patients was 29 years, with a female predominance (91.9%). Median serum 25-OH vitamin D levels were 30.4 ng/mL, with lower levels observed in patients with arthritis (<i>p</i> = 0.012), neurological involvement (<i>p</i> = 0.015) and active disease (<i>p</i> = 0.025). Serum 25-OH vitamin D inversely correlated with disease activity (<i>r</i> = −0.127, <i>p</i> = 0.032), anti-cardiolipin antibody (ACLA) immunoglobulin G (IgG) (<i>p</i> &lt; 0.001) and anti-phospholipid antibody (APLA) IgG (<i>p</i> = 0.030). Among VDR polymorphisms, <i>BsmI</i> b allele conferred reduced disease risk (odds ratio [OR] = 1.85, <i>p</i> &lt; 0.001). <i>TaqI</i> genotypes (Tt: OR = 2.29 and tt: OR = 6.48, <i>p</i> &lt; 0.05) and t allele (OR = 2.15, <i>p</i> &lt; 0.001) and <i>FokI</i> genotypes (Ff: OR = 4.13 and ff: OR = 3.14, <i>p</i> &lt;0.05) were strongly associated with increased susceptibility to SLE. <i>ApaI</i> variants were significantly associated with alopecia, haematological manifestations, disease activity and low complement component 3 (C3) levels, whereas <i>BsmI</i> and <i>FokI</i> polymorphisms were associated with neurological manifestations (<i>p</i> &lt; 0.05). Vitamin D receptor gene (VDR gene) polymorphisms may contribute to phenotypic variability and immune dysregulation in Indian SLE patients, suggesting that gene–environment interactions between vitamin D status and VDR variants may influence SLE susceptibility and clinical heterogeneity.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"179-192"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146201576","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 rs1800470 Polymorphism of TGF-β1 Influences the Incidence of Peri-Implantitis","authors":"Shiqi Liu,&nbsp;Dan Zhao,&nbsp;Liye Wang,&nbsp;Yaoyan Wang,&nbsp;Rongqing Hu,&nbsp;Fengxi Liu","doi":"10.1111/iji.70034","DOIUrl":"10.1111/iji.70034","url":null,"abstract":"<div>\u0000 \u0000 <p>Peri-implantitis is a pathological condition occurring in tissues around dental implants. This study aims to analyse the effect of TGF-β1 rs1800470 polymorphism on peri-implantitis. A total of 160 patients with implants without peri-implantitis and 160 patients with peri-implantitis were recruited from the clinic for this study. The genotype of TGF-β1 rs1800470 and TGF-β1 expression were detected by TaqMan-qPCR and RT-qPCR, respectively. Distributions of genotypes and allele frequencies were analysed by the chi-square test. A Hardy–Weinberg equilibrium (HWE) test was performed to detect whether the gene distribution was established. The diagnostic value of TGF-β1 for peri-implantitis was analysed by the ROC curve. TGF-β1 expression was significantly lower in peri-implantitis patients, which has diagnostic significance for peri-implantitis. TGF-β1 rs1800470 genotypic distribution conformed to the Hardy–Weinberg equilibrium test. CT and TT genotypes were significantly correlated with the development of peri-implantitis (<i>p</i> = 0.004, OR = 2.107, 95% CI = 1.259–3.527). CT and TT genotypes were validated as causative genotypes for peri-implantitis. Polymorphisms at the TGF-β1 rs1800470 locus have an impact on the development of peri-implantitis, and CT and TT genotypes increase the risk of developing peri-implantitis.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"171-178"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145933158","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-35 Subunits, IL-12A rs568408 and EBI3 rs4740, Gene Polymorphisms With Preeclampsia Risk","authors":"Mohammad Darvishzadeh,&nbsp;Danial Jahantigh,&nbsp;Forough Forghani,&nbsp;Mahnaz Rezaei,&nbsp;Saeedeh Ghazaey Zidanloo","doi":"10.1111/iji.70030","DOIUrl":"10.1111/iji.70030","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Preeclampsia (PE) is a major pregnancy complication with considerable maternal and fetal morbidities. The recent evidence indicates that immunological factors have critical roles in PE pathogenesis. This study assessed the association between genetic variations in IL-35 components, specifically IL-12A (rs568408) and EBI3 (rs4740) polymorphisms, and PE susceptibility in an Iranian population. A case-control study with 470 participants was carried out, and polymorphism detection was achieved by the PCR-RFLP technique. Genetic analysis revealed distinct associations between IL-35 components polymorphisms and PE risk. For IL-12A rs568408, the AA mutant genotype significantly increased PE susceptibility (OR = 3.350, <i>p</i> = 0.007), with stronger associations in severe PE cases (OR = 5.048, <i>p</i> &lt; 0.001). Similarly, the mutant allele showed risky effects in total group and severe subgroup (OR = 1.743, <i>p</i> = 0.001; OR = 2.307, <i>p</i> &lt; 0.001). The EBI3 rs4740 polymorphism analysis showed that AA genotype carriers had a protective effect (OR = 0.495, <i>p</i> = 0.036), particularly noticeable in severe cases (OR = 0.409, <i>p</i> = 0.037). In addition, the mutant allele demonstrated protective effects in the total PE, severe and particularly in early-onset manifestations (OR = 0.651, OR = 0.559, OR = 0.478, respectively). Combined genotype analysis showed that IL-12A AA/EBI3 GA carriers had the highest risk of severe, early-onset PE (OR = 5.280, <i>p</i> = 0.046, OR = 5.945, <i>p</i> = 0.038). This study provides a better understanding of the causes of PE and points out possible genetic markers to be used in its risk assessment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"144-156"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145700838","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":"Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review","authors":"Abdelhamid Bouramtane,&nbsp;Badreddine Elmakhzen,&nbsp;Hinde Elmouhi,&nbsp;Mohamed Ahakoud,&nbsp;Laila Bouguenouch,&nbsp;Karim Ouldim,&nbsp;Omar Askander","doi":"10.1111/iji.70028","DOIUrl":"10.1111/iji.70028","url":null,"abstract":"<p>Familial cold autoinflammatory syndrome 2 is a rare autoinflammatory disorder caused by mutations in the <i>NLRP12</i> gene, characterized by recurrent fever, arthralgia and rash triggered by cold exposure. This case report presents a 9-year-old boy with intellectual disability, microcephaly and skin lesions, where genetic testing revealed heterozygous pathogenic variants in both <i>KIF11</i> (NM_004523.4:c.2304_2305del) and <i>NLRP12</i> (NM_144687.4:c.770del) genes. While the <i>KIF11</i> variant has been previously documented, the <i>NLRP12</i> variant is novel and classified as likely pathogenic. This study also includes a systematic review analysing 28 studies and 100 patients with <i>NLRP12</i> mutations, revealing a phenotypic spectrum ranging from classic symptoms like fever and rash to rarer features such as hypogonadism, hypothyroidism and neurological abnormalities. A significant concentration of variants was noted in Exon 3 of <i>NLRP12</i>, but no clear genotype–phenotype correlation was established. These findings underscore the utility of next-generation sequencing in diagnosing rare genetic conditions, particularly in patients presenting with seemingly minor symptoms. The coexistence of mutations in <i>KIF11</i> and <i>NLRP12</i> highlights potential interactions between distinct genetic pathways, emphasizing the need for further research. Including <i>NLRP12</i> in diagnostic panels and updating databases like the Human Phenotype Ontology are crucial for improving diagnosis, understanding phenotypic diversity and optimizing patient management.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"73-82"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70028","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145556829","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":"Research Advances in the Physiological and Pathological Function of MYH9 and NMIIA","authors":"Yixiao Tian,&nbsp;Yanan Guo,&nbsp;Xinyue Zhou,&nbsp;Xiaohui Hu,&nbsp;Si Shuang,&nbsp;Peng Xia,&nbsp;Pengfei Ji,&nbsp;Wenhao Dong,&nbsp;Xinyi Yuan,&nbsp;Rong Shen,&nbsp;Degui Wang","doi":"10.1111/iji.70032","DOIUrl":"10.1111/iji.70032","url":null,"abstract":"<p>The <i>MYH9</i> gene encodes the heavy chain of non-muscle myosin IIA (NMIIA), which converts chemical energy into mechanical energy and provides power for the contraction of the actin cytoskeleton. This is necessary for many important physiological processes such as cell morphology maintenance, migration, adhesion, division and individual development. Patients with autosomal dominant genetic diseases caused by <i>MYH9</i> mutation show macrothrombocytopenia and complications such as renal failure, deafness and cataracts. However, in recent years, more and more studies have found that the activity of NMIIA is also related to various other diseases, including cancer, neurological diseases and infectious disorders. This article introduces the characteristics of myosin superfamily members and systematically reviews the structure, regulation and physiological functions of <i>MYH9</i> and NMIIA, as well as <i>MYH9</i>-related disorders (<i>MYH9</i>-RD) caused by <i>MYH9</i> mutations, focusing on the role of NMIIA in the pathogenesis of various cancers, and summarizes the therapeutic mechanisms of its targeted drugs. Besides, the effects of NMIIA in neurological diseases and infectious diseases are discussed to provide a comprehensive theoretical basis and insights for <i>MYH9</i> and NMIIA as a therapeutic target for multiple diseases.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"98-117"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70032","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145762584","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":"Evaluating Associations Between Ankylosing Spondylitis, Torque Teno Virus and Polymorphisms in Interleukin 6 and Vitamin D Receptor Genes","authors":"Dănuț Cimponeriu,&nbsp;Lavinia-Mariana Berca,&nbsp;Irina Radu,&nbsp;Mihai Toma,&nbsp;Remus Nica,&nbsp;Silvia Nica,&nbsp;Roxana Măciucă","doi":"10.1111/iji.70033","DOIUrl":"10.1111/iji.70033","url":null,"abstract":"<p>The etiology of ankylosing spondylitis (AS) is complex and not yet fully understood. Interleukin-6 (IL-6), vitamin D and the vitamin D receptor (VDR) play an important role in modulating immune response, and Torque teno virus is considered a marker of immune status.</p><p>This case–control study aimed to investigate the predisposition to AS. A total of 85 patients with AS and 100 clinically healthy individuals were included. <i>VDR</i> polymorphisms (rs2228570, rs1544410, rs7975232, rs731236) were genotyped using the PCR-RFLP technique, while for the <i>IL</i>-6 -174 G&gt;C (rs1800795) polymorphism the tetra-primer ARMS-PCR technique was used. The presence of TTV was detected using the hemi-nested PCR technique.</p><p>Our findings indicate a statistically significant association between TTV and AS (<i>p</i> = 0.035). C allele of both rs1800795 polymorphism in main groups (<i>p</i> = 0.027) and rs731236 polymorphism in women subgroups (<i>p</i> = 0.036) may be linked to an increased susceptibility to AS. However, none of these associations reach statistical significance after Bonferroni correction. Furthermore, within female subgroups, a significant association was found between the T allele of rs1544410 polymorphism and AS (<i>p</i> = 0.000038, corrected <i>p</i> = 0.00076). A significant association was also observed between the TT genotype of rs2228570 polymorphism, TTV and AS (<i>p</i> = 0.029). Haplotype analysis revealed that certain VDR haplotypes may confer either a protective effect against AS or an increased risk of developing the condition. Notably, rs1544410 polymorphism or a linked polymorphism may influence AS susceptibility. In conclusion, our data suggest that TTV and <i>VDR</i> polymorphisms may be associated with an increased risk of developing AS, indicating that these markers could potentially be used in the future for earlier diagnosis and more targeted treatment of the disease.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 2","pages":"157-170"},"PeriodicalIF":1.1,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12969246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145959387","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}