HLA最新文献

{"title":"Identification of the new allele HLA-C*04:01:01:186 in a Greek individual using next generation sequencing","authors":"Petros Mantzios,&nbsp;Theofilos Athanassiades,&nbsp;Diamanto Kouniaki,&nbsp;Vasiliki Kitsiou,&nbsp;Alexandra Tsirogianni","doi":"10.1111/tan.15569","DOIUrl":"10.1111/tan.15569","url":null,"abstract":"<p>The newly discovered <i>HLA-C*04:01:01:186</i> allele differs from <i>HLA-C*04:01:01:01</i> by a single nucleotide substitution in intron 3.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626627","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 novel non-classical HLA-G*01:46 identified in a Brazilian individual","authors":"Matilde Romero,&nbsp;Vinícius Navega Stelet,&nbsp;Renata Binato,&nbsp;Eliana Abdelhay","doi":"10.1111/tan.15590","DOIUrl":"10.1111/tan.15590","url":null,"abstract":"<p>Non-classical <i>HLA-G*01:46</i> differs from <i>G*01:01:03:03</i> at one position in exon 3.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626628","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 novel HLA-DRB4 allele, HLA-DRB4*01:179","authors":"Wang-da Wu,&nbsp;Xian-xin Zhong,&nbsp;Zhan-rou Quan,&nbsp;Sheng-hua Luo,&nbsp;Rui Yuan","doi":"10.1111/tan.15600","DOIUrl":"10.1111/tan.15600","url":null,"abstract":"<p>One nucleotide substitution in codon 30 of <i>HLA-DRB4*01:03:01:01</i> results in a novel allele, <i>HLA-DRB4*01:179</i>.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626625","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 novel HLA-DRB1 allele, HLA-DRB1*09:54 was identified in a Chinese individual","authors":"Shouxian Zhao,&nbsp;Chen Chen,&nbsp;Fang Wang,&nbsp;Wei Zhang,&nbsp;Faming Zhu","doi":"10.1111/tan.15596","DOIUrl":"10.1111/tan.15596","url":null,"abstract":"<p><i>HLA-DRB1*09:54</i> shows a substitution G to A at position 449 when compared with <i>HLA-DRB1*09:01:02:01</i>.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590203","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 novel HLA-C*14:02:01:31 allele identified in a candidate bone marrow donor by next-generation sequencing","authors":"Diamanto Kouniaki,&nbsp;Alexandra Tsirogianni","doi":"10.1111/tan.15598","DOIUrl":"10.1111/tan.15598","url":null,"abstract":"<p>Characterisation of the novel <i>HLA-C*14:02:01:31</i> allele in a 21-year-old Greek bone marrow donor.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590202","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 novel HLA-C*04:01:01:182 allele identified in a candidate bone marrow donor by next-generation sequencing","authors":"Diamanto Kouniaki,&nbsp;Theofilos Athanassiades,&nbsp;Alexandra Tsirogianni","doi":"10.1111/tan.15594","DOIUrl":"10.1111/tan.15594","url":null,"abstract":"<p><i>HLA-C*04:01:01:182</i> differs from the <i>HLA-C*04:01:01:06</i> allele by one nucleotide substitution in the 5′UTR.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590201","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 HLA alleles and haplotypes with age at diagnosis of type 1 diabetes in an admixed Brazilian population: A nationwide study","authors":"Marília Brito Gomes,&nbsp;Gilson Costa dos Santos Jr,&nbsp;Rossana Santiago de Sousa Azulay,&nbsp;Deborah Conte Santos,&nbsp;Dayse Aparecida Silva,&nbsp;Paulo Ricardo Vilas Boas Carvalho,&nbsp;Carlos Antonio Negrato,&nbsp;Luís Cristóvão Porto","doi":"10.1111/tan.15574","DOIUrl":"10.1111/tan.15574","url":null,"abstract":"<p>To investigate the potential relationship between HLA alleles and haplotypes and the age at diagnosis of type 1 diabetes (T1DAgeD) in an admixed Brazilian population. This nationwide study was conducted in public clinics across 12 Brazilian cities. We collected demographic and genetic data from 1,600 patients with T1D. DNA samples were utilised to determine genomic ancestry (GA) and perform HLA typings for DRB1, DQA1 and DQB1. We explored allele and haplotype frequencies and GA in patients grouped by T1DAgeD categories (&lt;6 years, ≥6–&lt;11 years, ≥11–&lt;19 years and ≥19 years) through univariate and multivariate analyses and primary component analyses. Additionally, we considered self-reported colour–race and identified a familiar history of T1D in first-degree relatives. The homozygosity index for DRB1~DQA1~DQB1 haplotypes exhibited the highest variation among T1DAgeD groups, and the percentages of Sub-Saharan African and European ancestries showed opposite trends in principal component analysis (PCA) analyses. Regarding the association of alleles and haplotypes with T1DAgeD, risk alleles such as <i>HLA-DQB1*03:02g</i>, <i>-DQA1*03:01g</i>, <i>-02:01g</i>, <i>DRB1*04:05g</i> and -<i>04:02g</i> were more frequently observed in heterozygosity or homozygosity in T1D patients with an early disease onset. Conversely, alleles such as <i>DRB1*07:01g</i>, <i>-13:03g</i>, <i>DQB1*06:02g</i> and <i>DQA1*02:01</i> were more prevalent in older T1D patients. The combination DR3/DR4.5 was significantly associated with early disease onset. However, gender, GA, familiar history of T1D and self-reported colour–race identity did not exhibit significant associations with the onset of T1D. It is worth noting that the very common risk haplotype <i>DRB1*03:01g~DQA1*05:01g~DQB1*02:01g</i> did not differentiate between T1DAgeD groups. In the admixed Brazilian population, the high-risk haplotype <i>DRB1*04:05~DQA1*03:01~DQB1*03:02</i> was more prevalent in individuals diagnosed before 6 years of age. In contrast, the protective alleles <i>DQA1*01:02g</i>, <i>DQB1*06:02</i>g, <i>DRB1*07:01g</i> and <i>DRB1*13:03g</i> and haplotypes <i>DRB1*13:03g~DQA1*05:01g~DQB1*03:01g</i> and <i>DRB1*16:02g~DQA1*01:02g~DQB1*05:02g</i> were more frequently observed in patients diagnosed in adulthood. Notably, these associations were independent of factors such as sex, economic status, GA, familiar history of T1D and region of birth in Brazil. These alleles and haplotypes contribute to our understanding of the disease onset heterogeneity and may have implications for early interventions when detected in association with well-known genomic risk or protection factors for T1D.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590199","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 novel HLA-A allele, HLA-A*03:478, identified in a Korean individual","authors":"Jung-Ah Kim,&nbsp;Hae In Bang,&nbsp;Soobin Chae,&nbsp;Hwa Young Im,&nbsp;Jeong Won Shin","doi":"10.1111/tan.15595","DOIUrl":"10.1111/tan.15595","url":null,"abstract":"<p>One nucleotide substitution in codon 320 of <i>A*03:01:01:01</i> results in the novel allele, <i>HLA-A*03:478</i>.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590200","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-B*46:96 allele by next-generation sequencing","authors":"Lina Dong,&nbsp;Wenwen Pi,&nbsp;Nanying Chen,&nbsp;Wei Zhang,&nbsp;Faming Zhu","doi":"10.1111/tan.15593","DOIUrl":"10.1111/tan.15593","url":null,"abstract":"<p><i>HLA-B*46:96</i> differs from <i>HLA-B*46:01:01:01</i> by a single nucleotide substitution at position 479 C&gt;T.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563307","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-A*30:221 allele by next-generation sequencing","authors":"Tiziana Galluccio,&nbsp;Paola Giustiniani,&nbsp;Andrea Di Luzio,&nbsp;Giuseppe Testa,&nbsp;Marco Andreani","doi":"10.1111/tan.15592","DOIUrl":"10.1111/tan.15592","url":null,"abstract":"<p>The novel <i>HLA-A*30:221</i> allele differs from <i>HLA-A*30:01:01:01</i> by one nucleotide substitution in Exon 7.</p>","PeriodicalId":13172,"journal":{"name":"HLA","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563309","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}