International Journal of Immunogenetics最新文献

{"title":"To Study the Association of HLA-DQ2/8 With Celiac Disease and Identifying Proxy-SNPs for Predicting Their Presence in North Indian Population.","authors":"Priyanka Tiwari, B K Thelma, Ajit Sood, Vandana Midha, Sabyasachi Senapati","doi":"10.1111/iji.70045","DOIUrl":"10.1111/iji.70045","url":null,"abstract":"<p><p>Celiac disease (CD) risk conferred by HLA-DQ2 and DQ8 varies significantly across populations. In north India, where CD is as prevalent as in European populations, reports on the association of HLA-DQ2 and DQ8 with CD are limited. In a north Indian CD case-control cohort (459 CD and 450 controls), known CD-associated risk HLA-DQ alleles, HLA-DQA1*05:01/02:01/03:01 and HLA-DQB1*02/*03:02, were genotyped using SSP-PCR to uncover their frequency and association with CD. Published dense Illumina_Immunochip genotyping data of the study cohort were used to identify proxy-SNPs for HLA-DQ genotypes and their alleles. We also investigated the correlation between common CD phenotypes and DQ2/8 genotypes. Ninety-nine percent of the CD patients were found to carry HLA-DQ2.5, DQ2.2 or 8. HLA-DQA1*05:01 (OR = 5.86 [4.39-7.81], p < 0.0001) and HLA-DQB1*02 (OR = 16.61 [11.37-24.25], p < 0.0001) were identified as the strongest susceptibility alleles. HLA-DQ2.5 was present in 92% of patients and conferred the highest CD risk (OR = 29.01 [19.56-43.00], p < 0.00001), while DQ8 appeared protective (OR = 0.42 [0.25-0.70], p < 0.0001). HLA-DQ2.5/8 and HLA-DQ2.5/2.2 were found significantly associated with serum anti-tTG-IgA and skin conditions, respectively, among CD patients. rs1129740, rs9273012 and rs7744001 were identified as proxy-SNPs to efficiently predict the presence/absence of DQ2.5, DQ2.2, DQ8 and its alleles. This was the first well-powered study to evaluate the susceptibility of HLA-DQ in CD among the north Indian population. HLA-DQ2.5 showed a strong association with CD, conferring a higher disease risk, while DQ8 appeared protective, and the contribution of DQ2.2 was inconclusive. Three proxy-SNPs, rs1129740, rs9273012 and rs7744001, could be utilized to predict HLA-DQ genotypes as a cost-effective alternative for CD risk assessment.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"259-267"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147377339","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":"Frequency of HLA-DRB1*15:03-DRB5 Haplotypes in Saudi Population: A Predominance of DRB5*01:01 and Rare Absence of DRB5.","authors":"Sheerin A Alandejani, Abdullah Alrasheed, Asma Albaihed, Jaylan Al Mohaimeed, Mohammed Al Qazlan, Hanan Anazi, Dunia Jawdat, Ali H Hajeer","doi":"10.1111/iji.70039","DOIUrl":"10.1111/iji.70039","url":null,"abstract":"<p><p>The strong linkage between HLA-DRB1*15:03 and DRB5*01:01 is well established globally, yet its expression patterns in Saudi donors remain underexplored. In this study, we analysed high-resolution HLA genotypes derived from next-generation sequencing of 28,927 stem cell donors of Saudi ethnicity registered in the Saudi Stem Cell Donor Registry. We identified carriers of DRB1*15:03 and recorded their DRB5 status. Descriptive statistics were used to summarise allele frequencies and haplotype configurations. We found DRB1*15:03 in 931 donors (3.22%). Of these, 926 individuals (99.46%) co-expressed DRB5*01:01, four (0.43%) carried DRB5*02:02 and one (0.11%) had no detectable DRB5 alleles. This study indicates a nearly universal linkage disequilibrium between DRB1*15:03 and DRB5*01:01 in the Saudi population, with the absence of DRB5 being infrequent. These findings confirm the infrequency of DRB5 absence and the importance of complete DRB3/4/5 typing to optimise donor matching and minimise immunogenic risk.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"294-297"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146093126","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":"Quantitative Assessment of Analytical Ambiguity in Reverse Sequence-Specific Oligonucleotide (rSSO)-Based HLA Typing Platforms.","authors":"Fenghua Yuan, Ning Wang, Chao Yuan, Yan Zhao, Xiaoyan Wang","doi":"10.1111/iji.70051","DOIUrl":"10.1111/iji.70051","url":null,"abstract":"<p><p>Analytical ambiguity is an inherent and expected feature of reverse sequence-specific oligonucleotide (rSSO)-based HLA genotyping and reflects the size of the candidate allele space compatible with a given probe pattern at the analytical interpretation level. However, ambiguity is often treated as a binary attribute, which may obscure differences in its magnitude across platforms. We conducted a between-subject comparison of two commercial rSSO HLA typing platforms, One Lambda (386 patients; 6176 allele-level observations) and Immucor GTI (1003 patients; 16,048 allele-level observations). Analytical ambiguity was quantified as candidate allele count (CandidateCount) across eight HLA loci (A, B, C, DRB1, DQB1, DQA1, DPB1 and DPA1). Generalized estimating equations with a negative binomial family were used to account for within-patient clustering, with rate ratios estimated using Immucor GTI as the reference and p-values adjusted for multiple testing. Four loci showed significantly larger analytical candidate allele spaces on One Lambda than on Immucor GTI after Benjamini-Hochberg correction, with the largest effect observed at DPA1, where mean CandidateCount values were more than doubled (18.3 vs. 8.3). Moderate but significant differences were also observed at HLA-A, DQB1 and DPB1, whereas no significant platform differences were detected at HLA-B, HLA-C, DRB1 or DQA1. These findings demonstrate that analytical ambiguity differs between commercial rSSO HLA typing platforms in a locus-specific manner. Quantitative characterization of ambiguity at the raw interpretation level may help set expectations regarding locus-specific resolution burden and support workflow planning in laboratories using rSSO as a first-line typing approach.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"284-293"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690124","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":"Vitamin D Receptor Gene Polymorphism in Type 1 Diabetes in South Indian Population.","authors":"Karthick Rajendran, Pushpa Saravanan, Vasuki Ranganathan, Jaya Packiam Thayanithi, Govarthanan Shanmugam, Dharmarajan Panneerselvam, Chitra Ayyappan, Arunkumar Ramachandran, Priyadarshini Panneerselvam, Jayakrishna Pamarthi, Muthukumaran Rajaram","doi":"10.1111/iji.70044","DOIUrl":"10.1111/iji.70044","url":null,"abstract":"<p><p>Pancreatic beta cell destruction in Type 1 diabetes (T1D) is a possible consequence of an intricate autoimmune crosstalk between environmental factors and genetic elements. The vitamin D receptor (VDR) gene apart from regulating insulin secretion from the pancreas, also functions as a mediator of immune response through vitamin D. These interplay mechanisms vary across studies and population groups. Therefore, the aim of this study is to explore the association between VDR gene polymorphisms and T1D among South Indian subjects. This was a single-centre, prospective, case-control study that included 150 T1D and 155 non-diabetic control participants. All the participants' blood samples were analysed for vitamin D levels. TaqMan real-time assays were used to analyse the FokI (rs2228570), BsmI (rs1544410) and TaqI (rs731236) polymorphisms. The levels of vitamin D were significantly lower in the T1D group than in the control group. A statistically significant variation in the genotype of VDR polymorphism BsmI was noted between T1D and controls, with the homozygous variant (AA) of BsmI rs 1544410 present more frequently in the T1D group (44%) compared to the control group (23.2%) (odds ratio [OR] = 2.265, 95% confidence interval [CI]: 1.380-3.719, p < 0.001). The frequency of the A allele of the BsmI polymorphism was also significantly higher in the T1D (p < 0.002). Analysis of haplotype showed that combinations T-A-T and C-A-T were statistically linked with susceptibility to T1D (p < 0.008 and p < 0.005, respectively). High linkage disequilibrium (LD) was found between TaqI and BsmI (D' = 0.71). Statistically significant differences were not encountered in genotype and allelic frequencies of VDR polymorphism of either FokI or TaqI. This study findings revealed that BsmI polymorphism in the VDR gene and particular haplotypes are possibly associated with susceptibility to T1D in the South Indian population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"268-274"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147325718","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 Role of miR-148a-3p in Atopic Dermatitis and Its Correlation With Inflammation.","authors":"Lei Deng, Rui Zhang, Guozhang Ma, Linlin Zhu","doi":"10.1111/iji.70041","DOIUrl":"10.1111/iji.70041","url":null,"abstract":"<p><p>The study aims to investigate the expression characteristics and functions of miR-148a-3p in atopic dermatitis (AD), as well as its association with inflammation. A total of 150 skin tissue samples from patients with AD and 146 samples from healthy individuals were collected in this study. The expression level of miR-148a-3p was detected by RT-qPCR. An in vitro inflammatory model was established by treating HaCaT cells with TNF-α/IFN-γ. Cell proliferation and apoptosis were detected by the CCK-8 assay and flow cytometry, respectively. The levels of inflammatory factors were detected by ELISA and RT-qPCR. The targeting relationship between miR-148a-3p and PTEN was verified by dual-luciferase reporter assay. The expression of miR-148a-3p was significantly upregulated in the skin tissues of patients with AD and in TNF-α/IFN-γ-treated HaCaT cells. Inhibition of miR-148a-3p could promote cell proliferation, inhibit apoptosis, and significantly reduce the expression of inflammatory factors. PTEN was identified as a direct target of miR-148a-3p. Knockdown of PTEN reversed the protective effect of miR-148a-3p inhibitor on HaCaT cells. Under the context of AD, miR-148a-3p promotes the maintenance of inflammation and cell apoptosis in epidermal keratinocytes by inhibiting PTEN, which may exacerbate the disruption of the skin barrier.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"240-247"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147377353","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":"Don't Cut the Cord: Why Umbilical Cord Blood Still Deserves a Place in Transplantation.","authors":"Jenna Nunn, Kay Poulton, Robert Wynn","doi":"10.1111/iji.70050","DOIUrl":"10.1111/iji.70050","url":null,"abstract":"<p><p>The use of umbilical cord blood (UCB) as a stem cell source in haematopoietic stem cell transplant (HSCT) has greatly declined in recent years. It has largely been replaced by mismatched unrelated and family donors, facilitated by advances in transplant technologies, including post-transplant cyclophosphamide to prevent graft-versus-host disease (GVHD). UCB remains a distinctive source of haematopoietic stem cells (HSCs) with unique immunologic and practical advantages, including for those with malignant and non-malignant diseases. Compared to other cell sources, UCB transplantation (UCBT) offers comparable survival with reduced chronic GVHD (cGVHD) and with a potent graft-versus-leukaemia (GVL) effect. These outcomes likely reflect the biology of cord-derived lymphocytes-particularly naïve, adaptable CD8⁺ T-cells capable of rapid differentiation and tumour-directed cytotoxicity without sustained alloreactivity. UCB permits greater human leukocyte antigen (HLA) mismatch tolerance, especially when transplant is performed T-cell replete and can be accessed immediately, reducing time to transplant for high-risk leukaemia. In addition, recent advances in ex vivo expansion technologies have overcome historical limitations of low cell dose and delayed engraftment, expanding UCB's applicability to older paediatric and adult recipients. This review discusses the evidence of using UCB as a preferred stem cell source in patients with relapsed/refractory haematological malignancies and how we may interrogate the properties of UCB to improve outcomes in these high-risk cohorts.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"229-239"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13136670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690036","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":"i-iii"},"PeriodicalIF":1.1,"publicationDate":"2026-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148063369","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":"229-239"},"PeriodicalIF":1.1,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148076618","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":"284-293"},"PeriodicalIF":1.1,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148079627","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":"275-283"},"PeriodicalIF":1.1,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148065801","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}