International Journal of Immunogenetics最新文献

{"title":"Association of HLA-G 14-bp Insertion/Deletion Polymorphism With Recurrent Spontaneous Abortion: A Meta-Analysis.","authors":"Yan Sun, Mingzhu Huo, Jihua Zhao, Wenbin Niu","doi":"10.1111/iji.70000","DOIUrl":"https://doi.org/10.1111/iji.70000","url":null,"abstract":"<p><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 p_OR value of < 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>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e70000"},"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, Negar Gorjizadeh, Fatemeh Bitarafan, Mina Mohammadi-Sarband, Masoud Garshasbi","doi":"10.1111/iji.12717","DOIUrl":"https://doi.org/10.1111/iji.12717","url":null,"abstract":"<p><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 C1QB 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 C1QB gene, NM_001378156.1:c.263G>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 C1QB 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>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"e12717"},"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, Asmaa Haddaji, Hanâ Baba, Ahd Ouladlahsen, Safaa Aqillouch, Oumaima Laazaazia, Achraf Aainouss, Hind Dehbi, Sayeh Ezzikouri","doi":"10.1111/iji.70002","DOIUrl":"https://doi.org/10.1111/iji.70002","url":null,"abstract":"<p><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)-TLR2 rs3804099 (+597 C/T) and TLR4 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. TLR2 and TLR4 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 TLR2 and TLR4 and disease severity under various genetic models. However, in severe cases, TLR4 rs4986790 showed a significant association with ferritin levels (p = 0.0002) and lymphocyte count (p < 0.0001). TLR2 rs3804099 was linked to CRP levels in severe patients (p = 0.036). No associations were observed with anti-receptor-binding domain (RBD) IgG or anti-N IgG levels in severe cases (p > 0.05). These findings suggest that although TLR4 and TLR2 polymorphisms are not directly associated with COVID-19 severity, they may influence the inflammatory response. Specifically, TLR4 rs4986790 and TLR2 rs3804099 appear to modulate ferritin and CRP levels, potentially impacting disease progression in severe cases.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"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, Getachew Alamnie, Melaku Mekonnen","doi":"10.1111/iji.12719","DOIUrl":"https://doi.org/10.1111/iji.12719","url":null,"abstract":"<p><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 FokI 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 FokI 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 FokI 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; p < 0.001) than Type 2 diabetes patients and healthy controls. Furthermore, diabetic retinopathy patients had significantly higher frequencies of the FokI ff genotype (OR = 2.04; 95% CI = 1.24-3.75; p = 0.005) and the f allele (OR = 1.56; 95% CI = 1.18-2.06; p = 0.001) than Type 2 diabetes patients and healthy controls. These results indicate that vitamin D deficiency and vitamin D receptor FokI 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 FokI 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>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"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":"HLA-C*01:02 and -C*04:03 May Confer Susceptibility to Treponema pallidum Infection in the Chinese Han Population.","authors":"Chen Chen, Fang Wang, Nanying Chen, Lina Dong, Wei Zhang, Ji He, Faming Zhu","doi":"10.1111/iji.12716","DOIUrl":"https://doi.org/10.1111/iji.12716","url":null,"abstract":"<p><p>Some associations between Treponema pallidum (TP) susceptibility and human leukocyte antigen (HLA) loci at low resolution have been reported. However, the data for TP infection and HLA alleles at high resolution are limited. The purpose of this study was to perform a high-resolution screen for HLA 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 HLA-A, -C, -B, -DRB1, -DQB1 and -DPB1 loci using next-generation sequencing (NGS) technology. The correlations between TP infection and the alleles and haplotypes of HLA loci were determined by statistical analysis. Five HLA alleles, including HLA-A*32:01 (0.00% vs. 1.57%, p = 0.024), -B*52:01 (1.36% vs. 4.13%, p = 0.025), -C*01:02 (22.55% vs. 16.54%, p = 0.029), -C*04:03 (1.63% vs. 0.2%, p = 0.046) and -DQB1*05:03 (1.63% vs. 4.13%, p = 0.046), are potentially associated with TP infection. However, no significant difference was detected after p value correction. The frequency of the HLA-A*33:03-C*03:02-B*58:01-DRB1*03:01-DQB1*02:01-DPB1*05:01 haplotype in the control group was greater than that in the TP infection group (p = 0.002). In contrast, the frequency of the HLA-A*02:07-C*01:02-B*46:01-DRB1*08:03-DQB1*06:01-DPB1*02:01, HLA-A*11:01-C*03:04-B*13:01-DRB1*09:01-DQB1*03:03-DPB1*05:01, HLA-A*11:01-C*07:02-B*40:01-DRB1*08:03-DQB1*06:01-DPB1*02:01 and HLA-A*30:01-C*06:02-B*13:02-DRB1*07:01-DQB1*02:02-DPB1*02:01 haplotypes were lower in the control group than in the TP infection group (p < 0.05). HLA-C*01:02 and -C*04:03 may confer susceptibility to TP infection, whereas A*32:01, -B*52:01 and -DQB1*05:03 may protect against TP infection. These data are helpful in preventing and controlling TP transmission.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"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}

{"title":"The Quest for Antibodies and Other Acquired Immune Receptors: A Historical Perspective","authors":"Andrea De Lerma Barbaro,&nbsp;Sahar Balkhi,&nbsp;Stefano Giovannardi,&nbsp;Alberto Vianelli,&nbsp;Domenico Ribatti,&nbsp;Lorenzo Mortara","doi":"10.1111/iji.12712","DOIUrl":"10.1111/iji.12712","url":null,"abstract":"<p>The diversity of antibody molecules has for decades been an unsolved enigma that has attracted wide interest among biologists. Parallel to the accumulation of experimental evidence, progress in antibody research was also driven by the theoretical debate that played a particularly prominent role, at least until the entry of molecular biology into this field of investigation. Several publications have examined this topic from a historical perspective. In this article, we aim to examine the history of research into the mechanisms underlying antibody diversity from a partly new standpoint. In jawed vertebrates (gnathostomes), progressively more distant on the evolutionary scale from humans and mice—in non-model mammals, birds, amphibians, bony and cartilaginous fish—certain mechanisms for the diversity of acquired immunity receptors (B-cell receptors [BCR]/immunoglobulins [Ig] and T-cell receptors [TCR]) have been described that are quite unexpected on the basis of what has emerged from biomedical immunology studies. What is more, in <i>Agnatha</i> vertebrates, in several invertebrate phyla and even in bacteria, forms of adaptive immunity have been discovered, based on the ability to finely tune the host defence response to the infectious threats. These defence systems show some similarities with the acquired immunity of jawed vertebrates, although they are based on mechanisms and receptors totally different from BCR/Ig and TCR. Therefore, our aim is to investigate how the theoretical debate on antibody diversity, which developed in the 20th century, partly anticipated some of the central themes in the current research on adaptive immunity systems discovered in the previously mentioned non-model systems. With this aim, we have reformulated, in the language of modern biology, some of the hypotheses advanced in the first decades of antibody diversity research.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 3","pages":"125-134"},"PeriodicalIF":2.3,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12712","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964471","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":"Analysis of Rare Coding Variants in 470,000 UK Biobank Participants Reveals Genetic Associations With Childhood Asthma Predisposition","authors":"Zhenzhen Liu,&nbsp;David Curtis","doi":"10.1111/iji.12714","DOIUrl":"10.1111/iji.12714","url":null,"abstract":"<div>\u0000 \u0000 <p>Previous studies of genetic contributions to risk of childhood asthma have implicated common variants with small effect sizes. Some studies using exome sequence data have reported associations with rare coding variants having larger effects on risk, notably an analysis of 145,000 subjects which found association with loss of function (LOF) variants in <i>FLG</i>, the gene coding for filaggrin. Here, we report the results of an analysis of rare nonsynonymous and LOF variants, carried out on the full UK Biobank cohort of 470,000 exome-sequenced participants. The phenotype of childhood asthma was defined as reporting asthma with onset before 18. Regression analysis was applied to gene-wise tests for association of LOF and nonsynonymous variants. Forty-five tests using different pathogenicity predictors were applied to the first cohort of 200,000 participants. Subsequently, the 100 genes showing strongest evidence for association were analysed in the second cohort of 270,000 participants, using only the best-performing predictor for each gene. For <i>FLG</i>, separate analyses were carried out for participants with atopic dermatitis. Three genes achieved statistical significance after correction for testing these 100 genes: <i>FLG</i>, <i>IL33</i> and <i>PRKCQ</i>. The effects on asthma risk and frequencies of variants in different functional categories were characterised for these genes. Damaging coding variants were associated with increased risk of asthma in <i>FLG</i> and <i>IL33</i> but reduced risk in <i>PRKCQ</i>. <i>FLG</i> LOF variants were also associated with the risk of atopic dermatitis, and their effect on asthma risk was higher in people who reported a diagnosis of atopic dermatitis. Rare coding variants in a small number of genes have important effects on asthma risk. Further study of individual variant effects might elucidate mechanisms of pathogenesis. This research has been conducted using the UK Biobank Resource.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 3","pages":"155-161"},"PeriodicalIF":2.3,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015634","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 January, February and March 2025","authors":"","doi":"10.1111/iji.12713","DOIUrl":"10.1111/iji.12713","url":null,"abstract":"<p>The following sequences have been submitted to the Nomenclature Committee since the October, November and December 2024 nomenclature update (Marsh, <span>2025</span>) and, following agreed policy, have been assigned official allele designations (Marsh et al. <span>2010</span>). Full details of all sequences will be published in a forthcoming report.</p><p>Below are listed the newly assigned sequences (Table 1) and confirmations of previously reported sequences (Table 2). The accession number of each sequence is given and these can be used to retrieve the sequence files from the EMBL, GenBank or DDBJ data libraries. Although accession numbers have been assigned by the data-libraries and most sequences are already available, there is still the possibility that an author may not yet have allowed the sequence to be released; in such a case you will have to contact the submitting author directly. Additional information pertaining to new sequences is often included in the publications describing these alleles; a listing of recent publications that describe new HLA sequences is given in Table 3.</p><p>An N suffix was added to the DRB4*01:03:01:26 allele in February 2025, now making it DRB4*01:03:01:26N, as this allele was shown to have the same splice mutation as was previously reported in the DRB4*01:03:01:02N allele.</p><p>All new and confirmatory sequences should now be submitted directly to the WHO Nomenclature Committee for Factors of the HLA System via the IPD-IMGT/HLA Database using the sequence submission tool provided (Barker et al. <span>2023</span>; Robinson et al. <span>2024</span>). The IPD-IMGT/HLA Database may be accessed via the World Wide Web at: www.ebi.ac.uk/ipd/imgt/hla</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 3","pages":"162-187"},"PeriodicalIF":2.3,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12713","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980429","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":"A Potential Link Between HLA-DRB1/DQB1 Alleles and Response to Treatment in Rheumatoid Arthritis Patients","authors":"Ahmad Tahamoli-Roudsari,&nbsp;Ashkan Rasouli-Saravani,&nbsp;Zahra Basiri,&nbsp;Mehrdad Hajilooi,&nbsp;Ghasem Solgi","doi":"10.1111/iji.12711","DOIUrl":"10.1111/iji.12711","url":null,"abstract":"<div>\u0000 \u0000 <p>The present study aimed to determine the association of <i>HLA-DRB1/-DQB1</i> alleles with response to treatment and anti-citrullinated peptide antibody (ACPA) status in Iranian rheumatoid arthritis (RA) patients. A total of 167 RA patients, including 114 good responders (GRs) and 53 poor responders (PRs) as well as 330 ethnic-matched healthy controls, participated in this study. Disease activity and treatment response were assessed using the Disease Activity Score 28-joint (DAS28) scores during the 9-month post-treatment. <i>HLA-DRB1/-DQB1</i> alleles were identified using polymerase chain reaction with a sequence-specific primers (PCR-SSP) method and compared between the study groups. Of the patients, 106 (63.5%) were ACPA-positive, 88 (52.7%) human leucocyte antigen (<i>HLA</i>)-shared epitope (<i>SE</i>)-positive, 64 (38.3%) ACPA+<i>SE</i>+ and 37 (22.2%) ACPA−<i>SE</i>−. <i>HLA-SE</i> alleles were significantly more frequent in patients (<i>p</i> = 3.2e − 05), in PR versus GR patients (<i>p</i> = 0.01) and in ACPA+ versus ACPA− patients (<i>p</i> = 0.009). PR patients had a higher prevalence of ACPA+<i>SE</i>+ compared to GR patients (<i>p</i> = 0.02). Higher frequencies of <i>DRB1*04:02</i> (<i>p</i>_c = 0.03), <i>*04:04</i> (<i>p</i>_c = 0.007), <i>*04:05</i> (<i>p</i>_c = 5.0e − 05), *<i>10:01</i> (<i>p</i>_c = 1.0e − 04), <i>DQB1*03:02</i> (<i>p</i>_c = 0.002) and <i>*05:01</i> (<i>p</i>_c = 0.002) alleles, and lower frequencies of <i>DRB1*04:01</i> (<i>p</i>_c = 0.007), <i>*11:01</i> (<i>p</i>_c = 0.03), <i>*13:01</i> (<i>p</i>_c = 0.03) and <i>DQB1*06:03</i> (<i>p</i>_c = 0.03) alleles were observed in patients compared to healthy controls. These findings suggest a relationship between <i>HLA-SE</i> alleles and ACPA development and a potential link between <i>HLA-SE</i>/non-<i>SE</i> alleles and therapeutic responses in RA patients.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 3","pages":"141-154"},"PeriodicalIF":2.3,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803134","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":"Comparison of HISTO SPOT HLA AB With Cross-Match Results","authors":"Madeleine R. Harris,&nbsp;Andrew Canterbury,&nbsp;Judith E. Worthington,&nbsp;Marcus P. Lowe,&nbsp;Marie E. Hampson,&nbsp;Kay V. Poulton","doi":"10.1111/iji.12710","DOIUrl":"10.1111/iji.12710","url":null,"abstract":"<div>\u0000 \u0000 <p>Single antigen bead assays have revolutionised the identification and definition of HLA-specific antibodies and HLA-specific antibody profiles present in patients awaiting transplantation are routinely characterised to inform organ allocation. For highly sensitised patients with a lower likelihood of finding a compatible donor, de-listing of unacceptable antigens is an option to release organ offers. In this study, 164 serum samples from 106 potential renal transplant recipients were tested using HISTO SPOT HLA AB in parallel with testing by LABScreen Single Antigen (One Lambda) and cross-matching by both CDC and flow cytometry. The results were analysed to assess the ability of HISTO SPOT HLA AB to predict a cross-match result and to understand the relative sensitivity of this test compared with other available assays. 136 samples analysed were positive for donor-specific antibodies (DSAs) using HISTO SPOT HLA AB. Of these, 17 (12.5%) were CDC positive, and 82 (60.3%) were positive by flow cytometry. A total of 28 sera which were negative for DSAs using HISTO SPOT HLA AB were negative by CDC and 25 (89.3%) were also flow cytometry cross-match negative. In this early study, HISTO SPOT HLA AB has a 100% negative predictive value for CDC and 89.3% for flow cytometry cross-matching. HISTO SPOT may therefore prove a useful additional tool to inform de-listing strategies and to facilitate transplantation in highly sensitised patients.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 3","pages":"135-140"},"PeriodicalIF":2.3,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648392","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}