International Journal of Immunogenetics最新文献

{"title":"Co-Occurrence of HIV-Susceptibility and -Protective HLA Alleles Is a Possible Contributor to the Development of Primary HIV-Associated Thrombocytopenia (PHAT): A Cross-Sectional Study.","authors":"Walter J Janse van Rensburg, Anne-Cecilia van Marle, Lomari Geertsema","doi":"10.1111/iji.70003","DOIUrl":"https://doi.org/10.1111/iji.70003","url":null,"abstract":"<p><p>Primary HIV-associated thrombocytopenia (PHAT) is an isolated thrombocytopenia in HIV-positive individuals in the absence of secondary causes. The presence of certain Human Leukocyte Antigens (HLA) has been linked to individuals' immune response to HIV and the development of immune-mediated thrombocytopenic disorders. Considering the established associations between HLA and HIV infection and HLA and immune-mediated thrombocytopenias, we hypothesise that specific HLA alleles may also increase the risk of developing PHAT, a condition that links both HIV and immune-mediated thrombocytopenia. Therefore, the study aimed to determine the frequency of high-resolution HLA alleles in patients presenting with possible PHAT. Following a detailed screening process, we evaluated the HLA profiles of 43 participants with probable PHAT using the Axiom Precision Medicine Diversity Array (PMDA) Kit on the GeneTitan Multi-Channel instrument. No single HLA allele was found to be more prominent in our PHAT population. However, 93.02% of participants had both HIV-protective and HIV-susceptible alleles. The potential mechanism causing thrombocytopenia to be the only clinically relevant haematological abnormality in these patients remains to be explored. We concluded that the presence of both an HIV-protective and HIV-susceptibility allele in the same individual may cause antagonistic immune reactions, resulting in thrombocytopenia in HIV-positive individuals. We propose future long-term follow-up studies to determine the progression and outcome in patients with PHAT.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70003"},"PeriodicalIF":2.3,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636979","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 6 Promoter Region Polymorphism in Patients With Type 2 Diabetes Mellitus, Study in One Egyptian Centre.","authors":"Mohamad Mohsen Motawea, Ahmed Mohsen Faheem, Maysaa El Sayed Zaki, Mohamed Saleh Ismail, Noha Tharwat Abou El-Khier, Aml Mohamed Nada","doi":"10.1111/iji.70004","DOIUrl":"https://doi.org/10.1111/iji.70004","url":null,"abstract":"<p><p>Evidence indicates a connection between diabetes mellitus type 2 (DM2) and a chronic inflammatory reaction controlled by cytokines such as interleukin 6 (IL-6). This study examines the genetic variation in the IL-6 promoter region (rs1800796) among patients with DM2 compared to healthy individuals. Additionally, the study intends to quantify the levels of IL-6 in both groups. We evaluated the IL-6 levels in the blood samples from both groups and used restriction fragment length polymorphism to assess the presence of polymorphism in the IL-6 promoter region rs1800796. The study included 100 patients with DM2 and 100 healthy control subjects. The prevalence of the GC genotype was significantly higher in patients (72%) compared to controls (51%), with a p value of 0.001. Additionally, there was a substantial rise in the CC genotype among patients (10%) compared to controls (4%). IL-6 levels were considerably elevated in individuals with the CC genotype compared to those with the GG genotype (p1 = 0.001). Additionally, IL-6 levels were significantly higher than those with the GC genotype (75.1) than those with the GG genotype (p2 = 0.001). This study highlights the increased levels of IL-6 in DM2, indicating a persistent inflammatory response that may contribute to developing DM2. There is an apparent increase in the GC and CC genotypes in the promoter rs1800796 among people with diabetes. This suggests these genotypes may be genetic risk factors for DM2 in Egyptians. Furthermore, we linked these genetic variations to increased levels of IL-6.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70004"},"PeriodicalIF":2.3,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636980","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 Distribution of HLA-DRB4 Alleles Among HLA-DRB1*07:01-Positive Haplotypes in Saudi Arabia.","authors":"Sheerin A Alandejani, Fatma Aytül Uyar, Abdullah Alrasheed, Mohammed Alghamdi, Asma Albaihed, Abdullah S Matyuri, Abdulrahman Alkhaibari, Aishah Alanazi, Mohammed Alzahrani, Abdullah Alshubaili, Hanan Anazi, Ali H Hajeer","doi":"10.1111/iji.12715","DOIUrl":"https://doi.org/10.1111/iji.12715","url":null,"abstract":"<p><p>This study investigates the distribution of human leukocyte antigen (HLA)-DRB4 alleles in HLA-DRB1*07:01-positive haplotypes within a Saudi cohort of 313 individuals. It identifies strong linkage disequilibrium between HLA-DRB1*07:01 and specific alleles. The most prevalent HLA-DRB1∼DQB1 combination identified is DRB1*07:01∼DQB1*02:02. Additionally, for the HLA-DRB1*07:01∼DQB1*03:03 association, DRB4*01:01 was found to be more common than the DRB4*01:03N allele. The most frequently observed extended haplotype is HLA-A*02:01∼C*06:02∼B*50:01∼DRB1*07:01∼DRB4*01:03∼DQA1*02:01∼DQB1*02:02∼DPA1*01:03∼DPB1*04:01. These findings emphasize the distinct genetic characteristics of the Saudi population and contribute to understanding haplotypic diversity, particularly the prevalence of HLA-DR7-related alleles and their implications for disease susceptibility and transplantation compatibility.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144527869","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 Between Pathogenic Variants in NLRP12 and Autoinflammatory Disease: A Comprehensive Systematic Review.","authors":"Nasimeh Vatandoost, Sajjad Biglari, Tayebeh Ranjbarnejad, Hassan Vahidnezhad, Sima Jafarpour, Mohammad Abdolvand, Mansour Salehi, Roya Sherkat","doi":"10.1111/iji.70001","DOIUrl":"https://doi.org/10.1111/iji.70001","url":null,"abstract":"<p><p>Systemic auto-inflammatory diseases (SAID) are rare inherited conditions characterized by dysregulation of the immune system, which leads to recurrent episodes of fever and systemic inflammation. Recent studies have identified pathogenic variants in the nucleotide-binding leucine-rich repeat-containing receptor 12 (NLRP12) gene as potential contributors to autoinflammatory syndromes. Therefore, evaluating NLRP12 gene variants is crucial for the differential diagnosis of patients presenting symptoms associated with autoinflammatory diseases, specifically those known as NLRP12-associated autoinflammatory disease (NLRP12-AID). This study aims to identify causal variants in the NLRP12 gene encoding for NLRP12 and to discuss its pathogenesis, clinical features, and emerging treatment approaches. We used specific keywords for a systematic literature review via EMBASE, Scopus, ScienceDirect, Web of Science, and PubMed. Out of 874 articles, 27 met the inclusion criteria. To our knowledge, 103 patients with NLRP12 variants have been reported in the literature. All 60 variants in the NLRP12 coding gene were identified, including 49 classified as variants of uncertain significance (VUS), pathogenic, and likely pathogenic. The results show that the mean age of onset was 13.18 years. Fever was reported as the main symptom in 90% of cases of NLRP12-AID. Other symptoms, such as rash and urticaria, occurred in 59% of cases, myalgia and arthralgia in 39% of cases, arthritis in less than 20%, and abdominal pain/diarrhea in 50% of patients. In summary, the clinical features of NLRP12-AID are diverse and impact several tissues, particularly the musculoskeletal and gastrointestinal systems. In addition to familial cold autoinflammatory syndrome (FCAS) symptoms. Owing to its variable expression and incomplete penetrance, NLRP12-AID is often misdiagnosed. Therefore, we believe that patients with a syndrome of undifferentiated recurrent fever should also undergo genetic evaluation for NLRP12.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70001"},"PeriodicalIF":2.3,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144484311","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 HLA-G 14-bp Insertion/Deletion Polymorphism With Recurrent Spontaneous Abortion: A Meta-Analysis","authors":"Yan Sun,&nbsp;Mingzhu Huo,&nbsp;Jihua Zhao,&nbsp;Wenbin Niu","doi":"10.1111/iji.70000","DOIUrl":"10.1111/iji.70000","url":null,"abstract":"<div>\u0000 \u0000 <p>We performed a meta-analysis to study the relationship between HLA-G 14-bp insertion/deletion polymorphism and recurrent spontaneous abortion (RSA). All literature was searched from PubMed, Web of Science, Embase and Wanfang databases. Statistical analyses were performed by the STATA software (Version 16.0). A total of 35 studies were analysed which included 3652 women with RSA and 3331 normal control subjects. The current meta-analysis revealed that 14-bp insertion/deletion polymorphism has a significant association with RSA (I vs. D: OR: 1.17; 95% CI (1.05–1.30); II + ID vs. DD: OR: 1.33; 95% CI (1.11–1.59); II vs. DD: OR: 1.34; 95% CI (1.07–1.66); ID vs. DD: OR: 1.30; 95% CI (1.08–1.58)). Subgroup analysis by the number of abortions indicated that there was no significant association between HLA-G 14-bp insertion/deletion polymorphism and RSA risk in women with two or more abortions. However, HLA-G 14-bp insertion/deletion polymorphism was associated with the risk of RSA in women with three or more abortions as well as the overall population (I vs. D: OR: 1.26; 95% CI (1.04–1.52); II + ID vs. DD: OR: 1.47; 95% CI (1.09–1.98); II vs. DD: OR: 1.52; 95% CI (1.08–2.13); ID vs. DD: OR: 1.45; 95% CI (1.06–1.99)). Subgroup analysis by ethnicity indicated that HLA-G 14-bp insertion/deletion polymorphism increased RSA risk in both Asian ancestry group (II + ID vs. DD: OR: 1.35; 95% CI (1.06–1.73); ID vs. DD: OR: 1.37; 95% CI (1.06–1.78)) and European ancestry group (I vs. D: OR: 1.25; 95% CI (1.08–1.45); II vs. ID + DD: OR: 1.48; 95% CI (1.14–1.91); II vs. DD: OR: 1.61; 95% CI (1.19–2.18)). A <i>p</i>_OR value of &lt; 0.05 was considered statistically significant for these analyses. Our current meta-analysis demonstrated that the HLA-G 14-bp insertion/deletion polymorphism increased the risk of RSA in Asian ancestry group and European ancestry group.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 4","pages":"203-212"},"PeriodicalIF":2.3,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144309919","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":"Identification of a Novel Homozygous C1QB Mutation in an Iranian Girl: Expanding the Clinical Spectrum of C1q Deficiency","authors":"Nassim Gorjizadeh,&nbsp;Negar Gorjizadeh,&nbsp;Fatemeh Bitarafan,&nbsp;Mina Mohammadi-Sarband,&nbsp;Masoud Garshasbi","doi":"10.1111/iji.12717","DOIUrl":"10.1111/iji.12717","url":null,"abstract":"<div>\u0000 \u0000 <p>C1q deficiency is a rare autosomal recessive disease associated with recurrent skin lesions, chronic infections and an increased risk of autoimmune disorders, particularly systemic lupus erythematosus (SLE) or SLE-like disorders. Additionally, it has been linked to chronic glomerulonephritis and renal failure. C1q is the initial subcomponent of the classical pathway of the complement system and serves as a crucial linking factor between innate and acquired immunity. The C1 complex comprises three proteins: C1q, C1r and C1s. C1q comprises three chains: the A, B and C. The <i>C1QB</i> gene encodes the B-chain polypeptide of the serum complement subcomponent C1q. We report the case of an Iranian girl from a consanguineous family who suffers from C1q deficiency, presenting with some SLE symptoms that have not previously been described in the literature. She presented with progressive weakness in walking, tissue injury, skin lesions and subjective cognitive complaints regarding concentration and memory. The proband exhibited mild asymmetric uptake in the pelvic region, resulting in a waddling gait. Additionally, she showed abnormal circulating homocysteine levels, skin abnormalities and early inflammatory arthritis symptoms associated with SLE. Whole-exome sequencing (WES) was performed on the proband. A novel homozygous likely pathogenic missense variant in the <i>C1QB</i> gene, NM_001378156.1:c.263G&gt;A, was identified. The variant was confirmed by Sanger sequencing in the proband, her parents and her healthy sister. This case highlights the significance of identifying a novel mutation in the <i>C1QB</i> gene, which expands the clinical spectrum of C1q deficiency. This finding contributes to the broader understanding of the disease's phenotype, helping to refine diagnostic criteria, particularly in cases with atypical manifestations. Furthermore, identifying such mutations in consanguineous families aids in genetic counselling and early diagnosis, allowing for better clinical management and prevention strategies.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 4","pages":"222-231"},"PeriodicalIF":2.3,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144283851","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":"Genetic Variations in TLR2 and TLR4 Genes and Their Association With COVID-19 Severity and Inflammatory Markers in the Moroccan Population","authors":"Rachid Noureddine,&nbsp;Asmaa Haddaji,&nbsp;Hanâ Baba,&nbsp;Ahd Ouladlahsen,&nbsp;Safaa Aqillouch,&nbsp;Oumaima Laazaazia,&nbsp;Achraf Aainouss,&nbsp;Hind Dehbi,&nbsp;Sayeh Ezzikouri","doi":"10.1111/iji.70002","DOIUrl":"10.1111/iji.70002","url":null,"abstract":"<div>\u0000 \u0000 <p>The COVID-19 pandemic, caused by the SARS-CoV-2 virus, has significantly impacted global health, with Morocco reporting over 1.2 million confirmed cases and more than 16,300 deaths. The severity of COVID-19 varies, ranging from asymptomatic cases to mild symptoms, acute respiratory failure and death. Genetic factors are believed to influence individual responses to the virus. This study investigates the association between two common single nucleotide polymorphisms (SNPs) in Toll-like receptors (TLRs)—<i>TLR2</i> rs3804099 (+597 C/T) and <i>TLR4</i> rs4986790 (+896 A/G)—and disease severity and inflammatory markers in Moroccan COVID-19 patients. A total of 452 COVID-19 patients (259 with mild/moderate disease and 193 with severe disease) were included. <i>TLR2</i> and <i>TLR4</i> SNPs were genotyped using a predesigned TaqMan real-time allelic discrimination assay. Complete blood count samples, along with levels of C-reactive protein (CRP), ferritin, procalcitonin and D-dimer, were assessed using automated methods. No significant associations were observed between either SNP in <i>TLR2</i> and <i>TLR4</i> and disease severity under various genetic models. However, in severe cases, <i>TLR4</i> rs4986790 showed a significant association with ferritin levels (<i>p</i> = 0.0002) and lymphocyte count (<i>p</i> &lt; 0.0001). <i>TLR2</i> rs3804099 was linked to CRP levels in severe patients (<i>p</i> = 0.036). No associations were observed with anti-receptor-binding domain (RBD) IgG or anti-N IgG levels in severe cases (<i>p</i> &gt; 0.05). These findings suggest that although <i>TLR4</i> and <i>TLR2</i> polymorphisms are not directly associated with COVID-19 severity, they may influence the inflammatory response. Specifically, <i>TLR4</i> rs4986790 and <i>TLR2</i> rs3804099 appear to modulate ferritin and CRP levels, potentially impacting disease progression in severe cases.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 4","pages":"213-221"},"PeriodicalIF":2.3,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247775","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 Vitamin D Deficiency and Vitamin D Receptor FokI Gene Polymorphism With Diabetic Retinopathy Complications in Ethiopian Patients With Type 2 Diabetes Mellitus","authors":"Addisu Melake,&nbsp;Getachew Alamnie,&nbsp;Melaku Mekonnen","doi":"10.1111/iji.12719","DOIUrl":"10.1111/iji.12719","url":null,"abstract":"<div>\u0000 \u0000 <p>Several studies suggest that a deficiency in vitamin D might be a potential risk factor for developing diabetic retinopathy. Research has extensively studied vitamin D receptor genes, such as the <i>FokI</i> gene polymorphisms, and found links between these genetic variations and susceptibility to diabetic retinopathy across different populations. This study aimed to investigate how vitamin D deficiency and vitamin D receptor <i>FokI</i> gene polymorphisms influence the risk of diabetic retinopathy complications in individuals with Type 2 diabetes mellitus. This was a hospital-based case-control research with 153 diabetic retinopathy patients, 153 Type 2 diabetes mellitus patients, and 153 age- and sex-matched healthy controls. Through the collection and analysis of clinical and demographic data, the study assessed the diabetic retinopathy risk factors. The <i>FokI</i> genotypes were determined by analysing DNA isolated from blood samples using polymerase chain reaction and agarose gel electrophoresis. Diabetic retinopathy patients had a much higher prevalence of VDD (OR = 6.24, 95% CI = 3.14–12.39; <i>p</i> &lt; 0.001) than Type 2 diabetes patients and healthy controls. Furthermore, diabetic retinopathy patients had significantly higher frequencies of the <i>FokI</i> ff genotype (OR = 2.04; 95% CI = 1.24–3.75; <i>p</i> = 0.005) and the f allele (OR = 1.56; 95% CI = 1.18–2.06; <i>p</i> = 0.001) than Type 2 diabetes patients and healthy controls. These results indicate that vitamin D deficiency and vitamin D receptor <i>FokI</i> gene polymorphisms are risk factors for the onset and progression of diabetic retinopathy. There is a significant correlation between vitamin D deficiency and the development of diabetic retinopathy. Moreover, the <i>FokI</i> gene of the ff genotype and the f allele have been linked to an increased risk of developing diabetic retinopathy complications in patients with a history of Type 2 diabetes mellitus in the Ethiopian population under study.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 4","pages":"195-202"},"PeriodicalIF":2.3,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208511","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":"Professor Paul Dunn, 1958–2025","authors":"","doi":"10.1111/iji.12718","DOIUrl":"https://doi.org/10.1111/iji.12718","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144635545","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-C*01:02 and -C*04:03 May Confer Susceptibility to Treponema pallidum Infection in the Chinese Han Population","authors":"Chen Chen,&nbsp;Fang Wang,&nbsp;Nanying Chen,&nbsp;Lina Dong,&nbsp;Wei Zhang,&nbsp;Ji He,&nbsp;Faming Zhu","doi":"10.1111/iji.12716","DOIUrl":"10.1111/iji.12716","url":null,"abstract":"<div>\u0000 \u0000 <p>Some associations between <i>Treponema pallidum</i> (TP) susceptibility and human leukocyte antigen <i>(HLA)</i> loci at low resolution have been reported. However, the data for TP infection and <i>HLA</i> alleles at high resolution are limited. The purpose of this study was to perform a high-resolution screen for <i>HLA</i> alleles that confer susceptibility to TP infection in the Chinese Han population. A total of 184 individuals with TP infection were included in the study, and 254 unrelated healthy blood donors were included in the control group. The samples were genotyped for the <i>HLA-A, -C, -B, -DRB1, -DQB1</i> and <i>-DPB1</i> loci using next-generation sequencing (NGS) technology. The correlations between TP infection and the alleles and haplotypes of <i>HLA</i> loci were determined by statistical analysis. Five <i>HLA</i> alleles, including <i>HLA-A*32:01</i> (0.00% vs. 1.57%, <i>p </i>= 0.024), <i>-B*52:01</i> (1.36% vs. 4.13%, <i>p </i>= 0.025), <i>-C*01:02</i> (22.55% vs. 16.54%, <i>p </i>= 0.029), <i>-C*04:03</i> (1.63% vs. 0.2%, <i>p </i>= 0.046) and <i>-DQB1*05:03</i> (1.63% vs. 4.13%, <i>p </i>= 0.046), are potentially associated with TP infection. However, no significant difference was detected after <i>p</i> value correction. The frequency of the <i>HLA-A*33:03-C*03:02-B*58:01-DRB1*03:01-DQB1*02:01-DPB1*05:01</i> haplotype in the control group was greater than that in the TP infection group (<i>p </i>= 0.002). In contrast, the frequency of the <i>HLA-A*02:07-C*01:02-B*46:01-DRB1*08:03-DQB1*06:01-DPB1*02:01</i>, <i>HLA-A*11:01-C*03:04-B*13:01-DRB1*09:01-DQB1*03:03-DPB1*05:01</i>, <i>HLA-A*11:01-C*07:02-B*40:01-DRB1*08:03-DQB1*06:01-DPB1*02:01</i> and <i>HLA-A*30:01-C*06:02-B*13:02-DRB1*07:01-DQB1*02:02-DPB1*02:01</i> haplotypes were lower in the control group than in the TP infection group (<i>p </i>&lt; 0.05). <i>HLA-C*01:02</i> and <i>-C*04:03</i> may confer susceptibility to TP infection, whereas <i>A*32:01</i>, <i>-B*52:01</i> and <i>-DQB1*05:03</i> may protect against TP infection. These data are helpful in preventing and controlling TP transmission.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 4","pages":"189-194"},"PeriodicalIF":2.3,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007274","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}