International Journal of Immunogenetics最新文献

{"title":"Host Genetics and Gastric Cancer Risk beyond Helicobacter pylori Infection.","authors":"Mikaela Nagahara, Bruno Mari Fredi, Lucas Trevizani Rasmussen","doi":"10.1111/iji.70072","DOIUrl":"https://doi.org/10.1111/iji.70072","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70072"},"PeriodicalIF":1.3,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149181739","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 miR-130a-5p rs731384 With the Susceptibility of Peri-Implantitis and the Function of miR-130a-5p in Peri-Implantitis.","authors":"Yong Li, Jianan Kang, Zhen Yan, Ying Cen","doi":"10.1111/iji.70062","DOIUrl":"https://doi.org/10.1111/iji.70062","url":null,"abstract":"<p><p>Peri-implantitis (PI) is a common inflammatory disease that threatens the stability of dental implants. This study investigated whether the promoter polymorphism rs731384 of the miR-130a gene is linked to PI susceptibility and further explored the functional role of miR-130a-5p in inflammatory responses and osteoblast viability. A total of 143 patients without PI and 127 patients with PI were gathered in this study. MassARRAY was used to genotype rs731384. Saliva samples were collected to measure miR-130a-5p expression (via reverse transcriptase-polymerase chain reaction [RT-PCR]) and inflammatory cytokine levels (including interleukin [IL]-1β, IL-6 and tumour necrosis factor [TNF]-α, via enzyme-linked immunosorbent assay [ELISA]). In vitro inflammation model was established by treating hFOB1.19 human osteoblasts with lipopolysaccharide (LPS). The functional role of miR-130a-5p was assessed by transfecting cells with a miR-130a-5p inhibitor and evaluating its effects on cell viability, apoptosis and cytokine release in the supernatants. Bioinformatic databases (miRDB, ENCORI and TargetScan) were utilized to predict downstream target genes and pathways. A Positive association has been discovered between rs731384 and PI susceptibility under GA versus GG (odds ratio [OR] = 1.758, 95% confidence interval [CI] = 1.017-3.036), A versus G (OR = 1.779, 95% CI = 1.140-2.778), and GA + AA versus GG (OR = 1.867, 95% CI = 1.110-3.140) models. Upregulated miR-130a-5p showed promising diagnostic value for distinguishing PI from healthy controls (area under the curve [AUC] = 0.858, sensitivity = 80.31%, specificity = 79.02%). Spearman analysis revealed a positive correlation between miR-130a-5p and periodontal parameters as well as inflammation factors (IL-1β, IL-6, TNF-α and C-reactive protein [CRP]). The miR-130a inhibitor reversed the LPS-induced reduction in cell viability, the increase of apoptosis and the enhancement of IL-1β, IL-6 and TNF-α concentrations. Bioinformatics predicted that miR-130a-5p targets genes enriched in TGF-β, Hippo and FoxO signalling pathways. The mir-130a-5p rs731384 polymorphism is positively correlated with PI susceptibility. High miR-130a-5p may contribute to the diagnosis of PI from healthy controls. The inflammation and metabolism of bone tissue in PI may be significantly influenced by miR-130a.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70062"},"PeriodicalIF":1.3,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149181764","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":"Interleukin-17F Variants, Gastric Dysbiosis and Persisting Gastric Cancer Risk After Helicobacter pylori Eradication.","authors":"Christos Zavos","doi":"10.1111/iji.70070","DOIUrl":"https://doi.org/10.1111/iji.70070","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70070"},"PeriodicalIF":1.3,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149080913","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 Effect of PTPN22 Polymorphism on Juvenile Idiopathic Arthritis Subtypes and Disease Activity in a Finnish Study Population.","authors":"Sonja Kvist, Johanna Teräsjärvi, Heidi Rahikkala, Jussi Mertsola, Milja Möttönen, Qiushui He","doi":"10.1111/iji.70069","DOIUrl":"https://doi.org/10.1111/iji.70069","url":null,"abstract":"<p><p>Genetic factors that modulate immune regulation are increasingly recognised as contributors to the heterogeneity and clinical course of autoimmune diseases. Polymorphisms of protein tyrosine phosphatase non-receptor type 22 (PTPN22) are associated with several autoimmune diseases. We aimed to investigate the association of PTPN22 rs2476601 polymorphism (C1858T, R620W) with juvenile idiopathic arthritis (JIA) subtypes, disease activity and treatment response. A total of 105 patients with diagnosed JIA were recruited. Blood samples were collected, and PTPN22 polymorphism was analysed and compared to data from the 1000 Genomes. The PTPN22 rs2476601 A-allele was associated with increased JIA risk (OR: 1.71; 95% CI, 1.02-2.96; p = 0.043), while overall genotype frequency in patients did not significantly differ from controls (p = 0.086). Variant genotypes (AG/AA) were enriched in polyarticular JIA (p-JIA; OR: 2.27; 95% CI, 1.04-4.96; p = 0.037). All patients who developed uveitis had either ANA positivity or a PTPN22 variant genotype. None of ANA-negative patients with the PTPN22 wild-type genotype (GG) were diagnosed with uveitis (p = 0.044). Across three time points, disease activity improved significantly in both o-JIA and p-JIA. In o-JIA, ESR levels were persistently higher in the PTPN22 GG carriers. In contrast, in p-JIA, PTPN22 AG/AA genotype consistently showed higher active joint counts over time than those with GG genotype. Our present data deepen the understanding of the role of PTPN22 as a susceptibility factor in JIA, particularly in p-JIA. The observed associations suggest that PTPN22 polymorphism may contribute to disease heterogeneity and disease course in selected JIA subgroups.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70069"},"PeriodicalIF":1.3,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149024735","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":"miR-7641: A Novel Diagnostic Biomarker for Rheumatoid Arthritis That Exerts Protective Effects by Targeting TNFSF10.","authors":"Yuchen Zhang, Huijin Chen, Hongming Liang, Jinxiang Zhang, Jian Wan","doi":"10.1111/iji.70065","DOIUrl":"https://doi.org/10.1111/iji.70065","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is closely associated with genetic factors, but there is still a lack of ideal biomarkers for its early diagnosis and precise intervention. To investigate the diagnostic value and synovial cell function of miR-7641 in RA, and its mechanistic link to TNFSF10. A case-control study was conducted with 152 RA patients and 152 matched asymptomatic first-degree relatives. Serum miR-7641 and TNFSF10 levels were quantified by qRT-PCR. Diagnostic accuracy was assessed via logistic regression and ROC analysis. In MH7A cells, miR-7641 mimic/inhibitor transfection was performed, followed by assessments of proliferation (CCK-8), inflammatory cytokines (ELISA), and target interaction (dual-luciferase assay). Rescue experiments involved co-transfection of the miR-7641 mimic and a TNFSF10 overexpression plasmid. Serum miR-7641 was downregulated in RA patients and identified as an independent protective factor with high diagnostic accuracy (AUC = 0.902). In MH7A cells, miR-7641 overexpression suppressed proliferation and reduced IL-6, IL-1β, and TNF-α secretion. TNFSF10 was confirmed as a direct target, with its expression negatively correlating with miR-7641 in serum samples. Importantly, TNFSF10 overexpression rescued the inhibitory effects of miR-7641 on proliferation and cytokine production. This study identifies serum miR-7641 as a potential diagnostic biomarker for RA. In an immortalized synovial cell model, miR-7641 exerts protective effects by targeting TNFSF10 to inhibit proliferation and inflammation. Future studies in primary cells and in vivo models are required to validate these findings and explore downstream signalling mechanisms.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70065"},"PeriodicalIF":1.3,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148989874","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 Interleukin-17F Polymorphisms (rs763780, rs9382084, rs2397084, and rs12203582) With Gastric Cancer Susceptibility According to Helicobacter pylori Infection Status.","authors":"Mikaela Nagahara, Bruno Mari Fredi, Fabricio Abdalla Brandt, Alanis Dos Santos Fonseca, Milena Milani Coelho, Danielli Girolli, Elizabeth Suchi Chen, Monica Santiago Barbosa, Spencer Luiz Marques Payao, Lucas Trevizani Rasmussen","doi":"10.1111/iji.70068","DOIUrl":"https://doi.org/10.1111/iji.70068","url":null,"abstract":"<p><p>Single nucleotide polymorphisms (SNPs) in the interleukin-17F (IL-17F) gene may modulate inflammatory responses, with distinct effects on inflammation and tumour progression. Helicobacter pylori infection, a Group 1 carcinogen, is strongly associated with gastric cancer (GC) development. This study investigated the influence of IL-17F SNPs rs763780 (T>C), rs2397084 (T>C), rs9382084 (G>T), and rs12203582 (G>A) on GC susceptibility, considering H. pylori infection status. A total of 301 gastric biopsy samples were classified into the control (n = 95), gastritis (n = 112), and cancer (n = 94) groups. Helicobacter pylori detection and SNP genotyping were performed by quantitative real-time PCR (qPCR). Statistical analyses included Hardy-Weinberg equilibrium (HWE), Fisher's exact test, haplotype analysis, and genetic models using the SNPStats software, with sensitivity analysis performed in G*Power. All SNPs conformed to HWE except for rs763780. The T/C genotype and C allele of rs763780 were more frequent in the control group, indicating a protective effect (OR = 0.35; 95% CI = 0.14-0.91; p = 0.04). In contrast, the G/G genotype of rs9382084 (OR = 2.29; 95% CI = 1.02-5.13; p = 0.039) and the A/A genotype of rs12203582 (OR = 3.01; 95% CI = 1.01-8.93; p = 0.047) were associated with increased GC risk. No significant association was found for rs2397084. Haplotype analysis identified the rs763780-C/rs2397084-T/rs9382084-T/rs12203582-G haplotype as protective against GC (OR = 0.30; 95% CI = 0.10-0.86; p = 0.026). Stratified analysis according to H. pylori infection status suggested specific associations between SNPs rs763780, rs2397084, and rs12203582 and the risk of GC. These findings suggest that IL-17F gene SNPs influence GC susceptibility, exerting protective or risk effects depending on the specific polymorphism and its interaction with H. pylori infection.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70068"},"PeriodicalIF":1.3,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148989865","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":"Cell Type-Resolved Causal Inference and Spatial Transcriptomic Integration Reveal Immune-Specific Genetic Drivers of Autoimmune and Malignant Thyroid Disease.","authors":"Chun Zhang, Jingqi Zhang","doi":"10.1111/iji.70066","DOIUrl":"https://doi.org/10.1111/iji.70066","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Thyroid diseases, including autoimmune thyroid disease (AITD) and thyroid cancer, are characterized by immune dysregulation, yet the cell type-specific genetic mechanisms underlying these conditions remain poorly understood. Most genome-wide association studies (GWAS) have relied on bulk tissue expression quantitative trait loci (eQTL), which cannot resolve the heterogeneity of immune cell populations.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;We performed two-sample Mendelian randomization (MR) analyses using single-cell cis-eQTLs from 14 immune cell subtypes (OneK1K cohort) as instrumental variables against GWAS summary statistics for four thyroid outcomes: autoimmune hyperthyroidism, autoimmune hypothyroidism, thyroid cancer and autoimmune thyroiditis. Causal associations were validated through Bayesian colocalization, phenome-wide association analysis (PheWAS) and multi-layered transcriptomic validation encompassing spatial transcriptomics of AITD tissue (GSE248205), bulk RNA-seq of thyroid cancer (GSE3678) and single-cell RNA-seq of thyroid tumours (GSE250521). gsMap spatial LD score regression was applied to map disease heritability onto spatial tissue architecture.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;We identified six Bonferroni-significant causal gene-cell type pairs for autoimmune hyperthyroidism, including protective effects of ABHD16A in naïve/immature B cells (OR = 0.440), HIST1H3H in CD8 NC T cells (OR = 0.324), HMGN4 in NK recruiting cells (OR = 0.556) and ZKSCAN4 in CD8 S100B T cells (OR = 0.427), with five pairs showing strong colocalization (PP.H4 ≥ 86%). Three pairs reached significance for autoimmune hypothyroidism, including a risk association of HLA-F in CD4 NC T cells (OR = 1.139). For autoimmune thyroiditis, FAM134B/RETREG1 showed consistent suggestive protective associations across both CD4 and CD8 NC T cells (PP.H4 ≥ 90% for both), suggesting a possible involvement of ER phagy regulation in thyroiditis susceptibility. Thyroid cancer showed a suggestive association with HLA-G in classical monocytes (OR = 1.899, PP.H4 = 53%). Spatial transcriptomic validation demonstrated progressive immune infiltration from control tissue to Graves' disease to Hashimoto's thyroiditis (7.7%-15.7%, 46.1%-54.1%, respectively) and strong spatial correlation between target gene expression and corresponding cell type enrichment (e.g., plasma cell-HLA-DQB1: r = 0.491, p &lt; 10&lt;sup&gt;-300&lt;/sup&gt;). HLA-G was independently validated in thyroid cancer bulk (log&lt;sub&gt;2&lt;/sub&gt;fc = 0.542, p = 9.51 × 10&lt;sup&gt;-3&lt;/sup&gt;, AUC = 0.857) and single-cell datasets. PheWAS revealed no significant associations detected for the core candidates. gsMap identified significant enrichment of autoimmune hypothyroidism heritability in gastrointestinal tract, adrenal gland and adipose tissue (all Bonferroni p &lt; 0.002).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;This study establishes a multi-scale analytical framework integrating cell type-resolved genetic inference with","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70066"},"PeriodicalIF":1.3,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148968051","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":"MiR-590-3p Targets HMGB1 to Alleviate Endothelial Injury Induced by β2GPI/Anti-β2GPI Immune Complex.","authors":"Ronghua Wang, Chen Li, Lingyan Lei, Yue Zhang, Xiangzhuo Zhao, Xuan Qi","doi":"10.1111/iji.70067","DOIUrl":"https://doi.org/10.1111/iji.70067","url":null,"abstract":"<p><strong>Background: </strong>As a systemic autoimmune condition, antiphospholipid syndrome (APS) currently lacks robust biomarkers for accurate diagnosis. While microRNAs (miRNAs) show promise as diagnostic and therapeutic targets, the specific function of miR-590-3p in APS pathogenesis is still unknown.</p><p><strong>Objective: </strong>This study investigated the miR-590-3p/HMGB1 axis in endothelial injury, aiming to uncover new therapeutic strategies for APS.</p><p><strong>Methods: </strong>This study included 128 APS cases and 72 healthy participants. Serum miR-590-3p and HMGB1 were quantified by qRT-PCR. ROC and logistic regression assessed diagnostic value and risk factors. In vitro, HUVECs were stimulated with β2GPI/anti-β2GPI immune complex (IC) to model endothelial injury. ELISA, colorimetric assays, and Western blotting measured TF, inflammatory cytokines, oxidative stress markers, and HMGB1 protein levels.</p><p><strong>Results: </strong>MiR-590-3p were markedly reduced in APS and negatively correlated with disease severity. miR-590-3p exhibited diagnostic value for APS (AUC = 0.827) and was identified as an independent protective factor (OR = 0.175). miR-590-3p overexpression significantly dampened IC-induced elevations of TF, IL-6, TNF-α, VCAM-1, MDA, and ROS, and rescued SOD function. Furthermore, HMGB1 upregulation negated the anti-inflammatory and antioxidant benefits conferred by miR-590-3p.</p><p><strong>Conclusion: </strong>MiR-590-3p is downregulated in APS and acts as an independent protective factor. miR-590-3p alleviates IC-induced endothelial inflammation and oxidative stress by targeting HMGB1.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70067"},"PeriodicalIF":1.3,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148944297","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 Neanderthal-Derived 3p21 Haplotype at LZTFL1 in Modern-Day Moroccans Is Associated With COVID-19 Severity and Further Suggests the Presence of Neanderthals in North Africa","authors":"Ahmed Bouhouche,&nbsp;Hanaa Skhoun,&nbsp;Jamila El Baghdadi,&nbsp;Fatima-Zahra El Yousfi","doi":"10.1111/iji.70061","DOIUrl":"10.1111/iji.70061","url":null,"abstract":"<div>\u0000 \u0000 <p>There is considerable variability in the clinical presentation of COVID-19 among patients infected with SARS-CoV-2. Genome-wide association studies (GWASs) have identified the 12q24.13 and 3p21.31 regions, derived from Neanderthal DNA, as the human genetic loci most strongly associated with COVID-19 severity. We examined in this study the 3p locus in the Moroccan population by analysing allele and haplotype frequencies at the <i>LZTFL1</i> gene and their associations with COVID-19 outcomes. Three SNPs at <i>LZTFL1</i>, tagging the Neanderthal-derived COVID-19 risk haplotype, were sequenced by Sanger's method in 102 ambulatory participants and 105 hospitalized patients and have been compared to 118 controls negative for SARS-CoV-2 infection using logistic regression analysis. Results showed that the prevalence of the lead variant rs11385942 in this locus was 8.9%, whereas the variants rs35044562 and rs13078854, which tag the Neanderthal haplotype, were present in only 6.3%. Our study showed that only the rs35044562-T and rs13078854-A alleles were associated with a 2.5-fold increased risk of severe COVID-19 (<i>p</i> = 0.028). These two alleles, in LD with the rs11385942-AA one, form the haplotype inherited from the Neanderthal, the only haplotype associated with COVID-19 severity in the Moroccan population (<i>p</i> = 0.030), whereas sub-Saharan African and the rare local haplotype also containing the rs11385942 variant do not influence the COVID-19 outcomes 19 (<i>p</i> &gt; 0.05). Furthermore, our study showed that the Neanderthal haplotype at 3p21 locus exists in the inhabitants of Morocco at a frequency close to that of Europeans and suggests a close connection between North Africa and Eurasia.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 5","pages":"381-388"},"PeriodicalIF":1.3,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148677369","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":"HLA Allele and Haplotype Frequencies Among Registered Unrelated Donors in the Western Region of Saudi Arabia","authors":"Dunia Jawdat,&nbsp;Roa Alshaer,&nbsp;Salam Alanazi,&nbsp;Alaa Aljulayfi,&nbsp;Arwa Alsuwailem,&nbsp;Ftuon Alotaibi,&nbsp;Zainab Almutairy,&nbsp;F. Aytül Uyar,&nbsp;Ali Hajeer","doi":"10.1111/iji.70059","DOIUrl":"10.1111/iji.70059","url":null,"abstract":"<div>\u0000 \u0000 <p>The Saudi stem cell donor registry (SSCDR) has successfully recruited over 92,000 unrelated potential stem cell donors through nationwide campaigns. The Western region of Saudi Arabia is characterized by its unique ethnic diversity, shaped by centuries of immigration and pilgrimage. This study aimed to determine the distribution of HLA alleles and haplotypes among donors from this region. A total of 1112 donors registered with SSCDR were included, all recruited during campaigns conducted in the Western region between 2019 and 2021. Participants provided ancestry information to confirm their city of origin. High-resolution HLA typing for loci A, B, C, DRB1 and DQB1 was performed using sequence-based typing (SBT). Allele and haplotype frequencies were estimated for each subgroup using Arlequin 3.5 software. Distinct haplotype patterns were observed across cities. The most common haplotypes in the 1112 potential stem cell donors in the Western Region of Saudi Arabia were HLA-A*02:01∼C*07:02∼B*07:02∼DRB1*15:01∼DQB1*06:02 and HLA-A*02:01∼C*06:02∼B*50:01∼DRB1*07:01∼DQB1*02:01 in Jeddah; A*23:01∼C*06:02∼B*50:01∼DRB1*07:01∼DQB1*02:01 in Al-Madinah; HLA-A*26:01∼C*07:02∼B*08:01∼DRB1*03:01∼DQB1*02:01, HLA-A*30:01∼C*06:02∼B*13:02∼DRB1*07:01∼DQB1*02:01 and HLA-A*02:01∼C*06:02∼B*50:01∼DRB1*07:01∼DQB1*02:01 in Makkah; HLA-A*02:01∼C*15:02∼B*51:01∼DRB1*13:01∼DQB1*06:03 and HLA-A*02:01∼C*07:02∼B*07:02∼DRB1*15:01∼DQB1*06:02 in Al-Baha; and HLA-A*31:01∼C*15:02∼B*51:01∼DRB1*13:01∼DQB1*06:03 in Taif. HLA data are available in the Allele Frequencies Net Database (AFND: 3854, 3855, 3856, 3857 and 3858) under the population name ‘Saudi Western Region’. In western Saudi Arabia, HLA allele and haplotype distributions demonstrate marked city-specific variation. Our research identifies DR7-, DR13- and DR15-based haplotypes as the most prevalent across the region. These findings are critical for optimizing unrelated donor searches for patients lacking compatible familial matches. Understanding these local frequencies allows for more targeted recruitment and better matching probabilities in stem cell registries.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"53 5","pages":"375-380"},"PeriodicalIF":1.3,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148706516","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}