HLA最新文献

{"title":"Identification of Four Novel HLA-C Alleles","authors":"Maria Loginova,&nbsp;Nadezhda Morozova,&nbsp;Julia Dudina,&nbsp;Igor Paramonov","doi":"10.1111/tan.71022","DOIUrl":"https://doi.org/10.1111/tan.71022","url":null,"abstract":"<div>\u0000 \u0000 <p>Four novel <i>HLA-C</i> alleles characterized by Next-Generation Sequencing, <i>HLA-C*06:431, -C*07:1272, -C*08:339</i> and <i>-C*12:479</i>.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 4","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068293","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":"Genomic Confirmation of HLA-C*06:358 by Next Generation and Oxford Nanopore Sequencing","authors":"Jarret Merschman,&nbsp;Justin Kreuter,&nbsp;Kevin Millard,&nbsp;Laurie Wakefield,&nbsp;Manish J. Gandhi","doi":"10.1111/tan.71011","DOIUrl":"https://doi.org/10.1111/tan.71011","url":null,"abstract":"<div>\u0000 \u0000 <p>The <i>HLA-C*06:358</i> allele is characterised by a single nucleotide substitution in codon 95 in exon 3.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 4","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068372","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":"Characterisation of the Novel HLA-C*04:580 Allele by Sequencing-Based Typing","authors":"Intissar Dalhoumi,&nbsp;Vincent Elsermans,&nbsp;Marine Cargou,&nbsp;Mamy Ralazamahaleo,&nbsp;Jonathan Visentin","doi":"10.1111/tan.71010","DOIUrl":"https://doi.org/10.1111/tan.71010","url":null,"abstract":"<div>\u0000 \u0000 <p><i>HLA-C*04:580</i> differs from <i>HLA-C*04:01:01:06</i> by a single non-synonymous change in exon 5.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 4","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068369","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 the Novel HLA-DRB3*01:01:02:12 Allele in a Korean Individual","authors":"Jiyoung Son,&nbsp;Okjoo Lee,&nbsp;Moo Yong Park,&nbsp;Hwa Young Im,&nbsp;Sooin Choi","doi":"10.1111/tan.71020","DOIUrl":"https://doi.org/10.1111/tan.71020","url":null,"abstract":"<div>\u0000 \u0000 <p>The novel <i>HLA-DRB3*01:01:02:12</i> allele was fully characterised in a Korean individual.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 4","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068371","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":"Characterisation of the Novel HLA-DPA1*01:03:01:155Q Allele by Next-Generation Sequencing","authors":"Delphine Giusti,&nbsp;Grégory Salez,&nbsp;Thierry Tabary,&nbsp;Marcelle Tonye Libyh,&nbsp;Grégory Gatouillat","doi":"10.1111/tan.71008","DOIUrl":"https://doi.org/10.1111/tan.71008","url":null,"abstract":"<div>\u0000 \u0000 <p><i>HLA-DPA1*01:03:01:155Q</i> differs from <i>HLA-DPA1*01:03:01:05</i> by one nucleotide substitution in the splice site preceding Exon 2.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 4","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068294","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":"Apparentness of Unseen Rejection Episodes Post Lung rLTx Is Reliably Enabled by ddcfDNA Detection","authors":"Aleksandra Gazikalovic,&nbsp;Christina Bade-Döding,&nbsp;Murielle Verboom,&nbsp;Susann Zirzow,&nbsp;Michael Hallensleben,&nbsp;Rainer Blasczyk,&nbsp;Jens Gottlieb,&nbsp;Funmilola Josephine Haukamp","doi":"10.1111/tan.71005","DOIUrl":"https://doi.org/10.1111/tan.71005","url":null,"abstract":"<p>ddcfDNA emerged as a biomarker for post-transplantation management strategies. Lung retransplant recipients represent a particularly vulnerable patient population with an increased risk of allograft injury. The demand for understanding if ddcfDNA levels differ between primary lung transplant recipients and lung retransplant recipients becomes obvious. Eight lung retransplant recipients and 50 primary lung transplant recipients with comparable HLA Class I and Class II mismatch scores were included in this retrospective study. During post-transplant monitoring, ddcfDNA results were evaluated alongside data on patient humoral immune responses pre- and post-transplantation. Antibody profiles of lung retransplant recipients did not differ significantly from those of their primary transplant comparisons. However, significantly higher ddcfDNA levels were observed in the retransplant cohort (median: 1.463%, IQR: 0.810–2.745) compared with primary transplant cohort (median: 0.550%, IQR: 0.338–0.935), <i>U</i> = 100.50, <i>Z</i> = −2.24, <i>p</i> = 0.012, <i>r</i> = 0.29. We identified that lung retransplant recipients exhibit increased allograft injury not solely attributable to humoral responses. Our study highlights that these patients face a higher immunological risk and supports the need for closer clinical follow-up using a resilient biomarker such as ddcfDNA. Incorporating ddcfDNA as a surrogate marker into post-transplant monitoring would provide early and unambiguous insights into allograft rejection, enabling prompt interventions to prevent unfavourable outcomes in this particularly fragile patient group.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 4","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/tan.71005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068370","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":"Genetics of Celiac Disease in Southern Brazil: High-Resolution HLA Haplotypes and Non-HLA Polymorphisms","authors":"Fernanda Vitório da Silva,&nbsp;Valéria Bumiller-Bini Hoch,&nbsp;Eduardo Delabio Auer,&nbsp;Priscila Ianzen dos Santos,&nbsp;Noah Cline,&nbsp;Luana Caroline Oliveira,&nbsp;Jennifer Elisabeth Hundt,&nbsp;Michael Wittig,&nbsp;Andre Franke,&nbsp;Paul J. Norman,&nbsp;Angelica Beate Winter Boldt","doi":"10.1111/tan.70972","DOIUrl":"https://doi.org/10.1111/tan.70972","url":null,"abstract":"<p>Celiac disease (CeD) is an autoimmune enteropathy triggered by gluten ingestion in genetically predisposed individuals, who frequently present HLA-DQ2 or HLA-DQ8 haplotypes. To examine the genetic architecture of CeD in the admixed South Brazilian population, we sequenced the HLA alleles to high resolution and genotyped 16 non-HLA polymorphisms, previously identified through genome-wide association studies of Europeans in 171 CeD diagnosed patients and 195 controls. Controls had no CeD diagnosis, no first-degree affected relatives, and were negative for anti-TTg autoantibodies. As expected, we observed a predominance of <i>HLA</i>-<i>DQA1*05:01:01~DQB1*02:01:01</i> (DQ2.5) and <i>HLA</i>-<i>DQA1*02:01:01~DQB1*02:02:01</i> (DQ2.2) haplotypes among patients (51.7% and 40.2%, respectively). The ancestral 8.1 haplotype of HLA Class I and II alleles presented the highest odds of developing CeD (OR = 6.54, pcorr = 0.000065). By contrast, <i>HLA</i>-<i>DQA1*01:02:01</i>, <i>HLA</i>-<i>DQB1*05:01:01</i>, <i>HLA</i>-<i>DRB1*08:02:01</i> and <i>HLA</i>-<i>DRB1*13:01:01</i> were more frequent among controls (OR &lt; 0.4, pcorr &lt; 0.01). In contrast to results obtained in populations of predominantly European origin, HLA-DQ8 frequencies did not differ between patients and controls. Among non-HLA loci, <i>rs6691768*G</i> (g.61326191G &gt; A) in <i>NFIA</i> was associated with protection (OR = 0.32, pcorr = 0.039) and <i>rs653178*C (</i>g.111569952C &gt; T<i>)</i> (OR = 1.49, pcorr = 0.042) in ATXN2 was associated with susceptibility. This is the first high-resolution HLA genotyping study of CeD in Brazil, providing a comprehensive overview of genetic susceptibility in an admixed population and highlighting new potential modulatory variants beyond the classical HLA loci.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 3","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/tan.70972","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149048561","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":"Characterisation of the Novel HLA-DQA1*04:01:11 Allele by Next-Generation Sequencing","authors":"Chen Chen,&nbsp;Ying Li,&nbsp;Fang Wang,&nbsp;Wei Zhang,&nbsp;Faming Zhu","doi":"10.1111/tan.71001","DOIUrl":"10.1111/tan.71001","url":null,"abstract":"<div>\u0000 \u0000 <p><i>HLA-DQA1*04:01:11</i> differs from <i>HLA-DQA1*04:01:01:01</i> by one nucleotide substitution in Exon 3.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 3","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149016819","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":"Allele-Level KIR Polymorphism and Two-Locus Haplotypes in Elderly and Young Individuals From Southeastern Europe: Data From the 18th International HLA and Immunogenetics Workshop (IHIWS)","authors":"Bushra Al Hadra,&nbsp;Tsvetelin Lukanov,&nbsp;Ileana Constantinescu,&nbsp;Dimitri Apostol,&nbsp;Katarzyna Bogunia-Kubik,&nbsp;Marta Dratwa-Kuzmin,&nbsp;Fatma Oguz,&nbsp;Yeliz Ogret,&nbsp;Katarzyna Koscinska,&nbsp;Anastasiya Mihaylova,&nbsp;Elissaveta Naumova","doi":"10.1111/tan.70982","DOIUrl":"https://doi.org/10.1111/tan.70982","url":null,"abstract":"<div>\u0000 \u0000 <p>Killer immunoglobulin-like receptors (KIRs) are central regulators of natural killer (NK) and T-cell function through interactions with HLA Class I ligands. Although KIR genes are highly polymorphic, their allele-level diversity and their potential role in healthy ageing remain incompletely characterized. In this study, we performed high-resolution, allele-level genotyping of 10 KIR genes in three ethnically distinct populations from Bulgaria, Romania, and Turkey. Each population was analysed separately, using unrelated healthy young individuals (≤ 35 years) and ethnically matched healthy elderly individuals (&gt; 65 years); allele frequencies and two-locus KIR haplotypes were then compared between age groups. Across all populations, most KIR alleles showed similar distributions between young and elderly cohorts, consistent with a shared European allelic framework. In the Bulgarian cohort, only <i>KIR3DL2*01001</i> showed a trend towards increased frequency among the elderly. In the Romanian cohort, healthy elderly individuals exhibited significant enrichment for <i>KIR2DL2*00101</i> and <i>KIR2DL3*00201</i>, along with increased retention of the inhibitory receptors KIR2DL1, KIR2DL2, and KIR2DL3. In the Turkish cohort, several low-frequency alleles of the framework genes KIR3DL2 and KIR3DL3 showed age-associated trends but did not remain significant after multiple-testing correction. Haplotype analysis revealed that the Bulgarian allele-level association was largely captured within the <i>KIR3DL1*00501</i>~<i>KIR3DL2*01001</i> haplotype, while multiple Romanian haplotypes carrying <i>KIR2DL2*00101</i> were enriched in the elderly group. Independent analyses involving Poles also showed a largely shared allelic repertoire characteristic of all four European populations. These findings provide an exploratory assessment of KIR allele-level variation in healthy ageing and suggest that the preservation of specific inhibitory KIR configurations may represent an immunogenetic feature of healthy ageing in Southeastern European populations. However, these associations should be considered preliminary and require validation in larger cohorts before definitive conclusions can be made.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 3","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149048050","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 the Novel HLA-DQB1*02:279 Allele by Next- and Third-Generation Sequencing","authors":"Romain Ferru-Clément,&nbsp;Perrine Augustin,&nbsp;Diana Ratiarison,&nbsp;Isabelle Jollet","doi":"10.1111/tan.70995","DOIUrl":"https://doi.org/10.1111/tan.70995","url":null,"abstract":"<div>\u0000 \u0000 <p><i>HLA-DQB1*02:279</i> differs from <i>HLA-DQB1*02:01:01:01</i> by a single nucleotide substitution in codon 120 within Exon 3.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"108 3","pages":""},"PeriodicalIF":5.0,"publicationDate":"2026-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148994617","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}