HLA最新文献

{"title":"The Full Genomic Sequence of the HLA-DQB1*06:97 Allele Identified Using PacBio Sequencing","authors":"Yanfei Hou,&nbsp;Mengyao Li,&nbsp;Da Mi,&nbsp;Long Yang,&nbsp;Chenliang Jiang","doi":"10.1111/tan.70359","DOIUrl":"https://doi.org/10.1111/tan.70359","url":null,"abstract":"<div>\u0000 \u0000 <p>We report the full genomic sequence of the HLA-DQB1*06:97 allele.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144814687","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":"Diversity and Frequency of HLA-DRB1*15:03-DRB5 Haplotypes in a Large Cohort: The Case of the Absent HLA-DRB5 Revisited","authors":"Michael Ponisciak,&nbsp;Abdelhamid Liacini,&nbsp;Eric Pimpinella,&nbsp;Rehan Mujeeb Faridi,&nbsp;Melanie Hagerty,&nbsp;Carly Carozza,&nbsp;Noureddine Berka","doi":"10.1111/tan.70357","DOIUrl":"https://doi.org/10.1111/tan.70357","url":null,"abstract":"<p>The HLA class II region contains nine DRB genes: DRB1, DRB3, DRB4 and DRB5 express functional gene products, whereas DRB2, DRB6, DRB7, DRB8 and DRB9 are pseudogenes. In this study, we assessed the frequency and diversity of two functional genes, DRB1 and DRB5; in particular, HLA-DRB1*15:03 with absence of the associated HLA-DRB5*01:01 allele (DRB1*15:03 positive DRB5*01:01 negative). We aimed to determine the frequency of DRB1*15:03 positive DRB5*01:01 negative in this cohort and to define any putative full or partial haplotypes that may show this genotype pattern. We performed HLA typing by NGS using One Lambda AllType or CareDx AlloSeq Tx17 on 6268 solid organ transplant (SOT) samples using DNA extracted from either buccal swabs or whole blood. The absence of HLA-DRB5 was confirmed by One Lambda LABType rSSOP. Confirmation of DRB1*15 homozygotes was performed by CareDx Copy Number (RUO) tool. In the present cohort, 554 (8.8%) individuals were identified as HLA-DRB1*15:03 positive. Of those, 48 individuals (8.7% of HLA-DRB1*15:03 positive) did not have the associated DRB5*01:01 allele present. We believe that this percentage could be as high as 11.2% when considering DRB1*15:XX homozygotes. Although linkage disequilibrium analysis showed strong LD between DRB1*15:03 and DRB5*01:01 (<i>D</i>′ = 0.89), supporting their co-inheritance on the same haplotype block, a moderate correlation coefficient (<i>r</i>² = 0.302) implied that DRB5*01:01 is not always present in all DRB1*15:03 carriers. Extended haplotypes associated with this phenomenon were constructed and characterised. Certain HLA-A, B, DRB1 haplotypes were strongly predictive of absent DRB5. To our knowledge, this is the largest cohort ascertaining the diversity and frequency of the HLA-DRB1*15:03 apparent haplotypes. Our results show a considerable proportion of DRB1*15:03 positive individuals lack the DRB5 gene. The results of this study are useful for unrelated donor research, transplantation, anthropological and disease association studies.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/tan.70357","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144807527","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-C*03:714 Allele by Next-Generation Sequencing","authors":"Zi-Hao Wang,&nbsp;Yi-Ling Yang,&nbsp;Xiao-Hui Wang,&nbsp;Zhi-Yang Yuan,&nbsp;Zhao-Qing Yang","doi":"10.1111/tan.70353","DOIUrl":"https://doi.org/10.1111/tan.70353","url":null,"abstract":"<div>\u0000 \u0000 <p><i>HLA-C*03:714</i> differs from <i>HLA-C*03:04:01:01</i> by one nucleotide substitution at position 685G&gt;A in exon 4.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144782709","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":"An In-Depth Review of the Genetics of the Non-Classical HLA Class I Gene HLA-E and Its Effects on Haematopoietic Cell Transplant Outcomes","authors":"J. A. M. Lucas,&nbsp;S. G. E. Marsh,&nbsp;N. P. Mayor","doi":"10.1111/tan.70344","DOIUrl":"https://doi.org/10.1111/tan.70344","url":null,"abstract":"<p><i>HLA-E</i> is a non-classical HLA class I gene with limited reported genetic variability and few published studies into full-gene sequencing or population allele frequencies. Two protein variants, <i>HLA-E*01:01</i> and <i>HLA-E*01:03</i>, are very common, accounting for 94%–100% of observed alleles in most studies performed to date. Frequently utilised exon-based sequencing strategies have led to the assumption of <i>HLA-E</i> being a near bi-allelic gene; however, recent full-gene sequencing studies have shown a greater degree of genetic variability than initially imagined. We carried out a literature review of <i>HLA-E</i> genotype and ethnicity data, which suggested <i>HLA-E*01:03</i> is more common in Asian and, in particular, East Asian populations. Furthermore, <i>HLA-E*01:03:02</i> is more frequently observed than <i>HLA-E*01:03:01</i> in European and American populations, whereas <i>HLA-E*01:03:01</i> is found at higher frequencies in Asian populations. It has been proposed that HLA-E may have a role in Haematopoietic Cell Transplantation (HCT) due to its interaction with NK and CD8⁺ T cells and its non-canonical peptide binding repertoire. Here we also review published literature into the effects of <i>HLA-E</i> genetics on HCT outcomes. Heterogeneity between cohorts muddies the waters; hence, studies report confounding effects of <i>HLA-E</i> genotype and matching on HCT outcomes. The need for further <i>HLA-E</i> sequencing of larger cohorts is evident to gain useful insight into the true genetic variability of <i>HLA-E</i> and its impact on HCT.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/tan.70344","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144782711","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":"Discovery of the novel HLA-DPB1*1789:01 Allele, a DBP1*02:01 Variant by Next Generation Sequencing","authors":"John Jeongseok Yang,&nbsp;Sohyeon Eom,&nbsp;Eun-Suk Kang","doi":"10.1111/tan.70345","DOIUrl":"https://doi.org/10.1111/tan.70345","url":null,"abstract":"<div>\u0000 \u0000 <p>HLA<i>-DPB1*1789:01</i> differs from HLA-<i>DPB1*02:01:02:89</i> by a non-synonymous nucleotide substitution in exon 4.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144782710","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-DQA1*01:142 Allele by Next-Generation Sequencing","authors":"Grégory Gatouillat,&nbsp;Grégory Salez,&nbsp;Marcelle Tonye Libyh,&nbsp;Bach Nga Pham,&nbsp;Delphine Giusti","doi":"10.1111/tan.70351","DOIUrl":"https://doi.org/10.1111/tan.70351","url":null,"abstract":"<div>\u0000 \u0000 <p><i>HLA-DQA1*01:142</i> differs from <i>HLA-DQA1*01:02:01:04</i> by one nucleotide substitution in codon 185 in exon 4.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144767324","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":"A Nine-Nucleotide Insertion Causes the Novel HLA-C*06:402 Allele in a Family Detected by Next-Generation Sequencing","authors":"Zeying Du,&nbsp;Michelle E. Murrin,&nbsp;Jasmine R. Kendrick,&nbsp;Charles D. Williams,&nbsp;Mohamed Elrefaei","doi":"10.1111/tan.70352","DOIUrl":"https://doi.org/10.1111/tan.70352","url":null,"abstract":"<div>\u0000 \u0000 <p><i>HLA-C*06:402</i> differs from <i>HLA-C*06:02:01:01</i> by a nine-nucleotide (TCCTGGCTG) insertion in exon 5.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144758620","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":"Comparative HLA Alleles and Haplotypes of Bone Marrow Volunteers Recruiting in the Asian and European Parts of Russia.","authors":"Daria Smirnova, Maria Loginova, Olga Makhova, Ivan Obukhov, Igor Paramonov","doi":"10.1111/tan.70350","DOIUrl":"https://doi.org/10.1111/tan.70350","url":null,"abstract":"<p><p>HLA typing of 9126 haematopoietic stem cell donors living in the Asian and European parts of Russia and identifying themselves as Russians was performed using NGS technology in 2-field resolution at the HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 loci. The study of donors in the Asian part of Russia disclosed 77 alleles at the HLA-A locus, 111 at the HLA-B locus, 58 at the HLA-C locus, 54 at the HLA-DRB1 locus, and 26 at the HLA-DQB1 locus. Donors of the European part of Russia are characterised by the following allelic diversity: 87 alleles at the HLA-A locus, 136 at the HLA-B locus, 72 at the HLA-C locus, 67 at the HLA-DRB1 locus, and 37 at the HLA-DQB1 locus. The most common five-locus haplotype in both populations is HLA-A*01:01 ~ HLA-C*07:01 ~ HLA-B*08:01 ~ HLA-DRB1*03:01 ~ HLA-DQB1*02:01. Throughout the study, 26 new alleles were revealed.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":"e70350"},"PeriodicalIF":4.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794312","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 Five Confirmatory Alleles in Brazilians by Next-Generation Sequencing.","authors":"Isabella Fantini Molinari, Fernanda Pelisson Massi, Larissa Danielle Bahls Pinto, Quirino Alves de Lima Neto, Jeane Eliete Laguila Visentainer","doi":"10.1111/tan.70358","DOIUrl":"10.1111/tan.70358","url":null,"abstract":"<p><p>Five HLA-DRB1 alleles were confirmed and the sequences extended in our laboratory.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":"e70358"},"PeriodicalIF":4.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144798965","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 HLA-C*18:06 Allele in a Prospective Bone Marrow Donor","authors":"Sunita Bhavsar,&nbsp;Akshay Chaudhary,&nbsp;Urja Desai,&nbsp;Sandip Shah,&nbsp;Prabin Kumar","doi":"10.1111/tan.70349","DOIUrl":"https://doi.org/10.1111/tan.70349","url":null,"abstract":"<div>\u0000 \u0000 <p>HLA-C*18:06 was identified by a single nucleotide (G&gt;A) substitution at position 275 in HLA-C*18:02.</p>\u0000 </div>","PeriodicalId":13172,"journal":{"name":"HLA","volume":"106 2","pages":""},"PeriodicalIF":4.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144751288","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}