Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds

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Autor(es): dc.contributorUniversidade Estadual Paulista (UNESP)-
Autor(es): dc.contributorNantes Université-
Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.contributorCentro Universitário Sudoeste Paulista-
Autor(es): dc.contributorHospital Israelita Albert Einstein-
Autor(es): dc.creatorSilva, Nayane dos Santos Brito-
Autor(es): dc.creatorSouza, Andreia da Silva-
Autor(es): dc.creatorAndrade, Heloisa de Souza-
Autor(es): dc.creatorPereira, Raphaela Neto-
Autor(es): dc.creatorCastro, Camila Ferreira Bannwart-
Autor(es): dc.creatorVince, Nicolas-
Autor(es): dc.creatorLimou, Sophie-
Autor(es): dc.creatorNaslavsky, Michel Satya-
Autor(es): dc.creatorZatz, Mayana-
Autor(es): dc.creatorDuarte, Yeda Aparecida de Oliveira-
Autor(es): dc.creatorMendes-Junior, Celso Teixeira-
Autor(es): dc.creatorCastelli, Erick da Cruz-
Data de aceite: dc.date.accessioned2025-08-21T17:11:06Z-
Data de disponibilização: dc.date.available2025-08-21T17:11:06Z-
Data de envio: dc.date.issued2023-07-29-
Data de envio: dc.date.issued2023-07-29-
Data de envio: dc.date.issued2023-06-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1111/tan.15043-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/249062-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/249062-
Descrição: dc.descriptionHLA-B is among the most variable gene in the human genome. This gene encodes a key molecule for antigen presentation to CD8+ T lymphocytes and NK cell modulation. Despite the myriad of studies evaluating its coding region (with an emphasis on exons 2 and 3), few studies evaluated introns and regulatory sequences in real population samples. Thus, HLA-B variability is probably underestimated. We applied a bioinformatics pipeline tailored for HLA genes on 5347 samples from 80 different populations, which includes more than 1000 admixed Brazilians, to evaluate the HLA-B variability (SNPs, indels, MNPs, alleles, and haplotypes) in exons, introns, and regulatory regions. We observed 610 variable sites throughout HLA-B; the most frequent variants are shared worldwide. However, the haplotype distribution is geographically structured. We detected 920 full-length haplotypes (exons, introns, and untranslated regions) encoding 239 different protein sequences. HLA-B gene diversity is higher in admixed populations and Europeans while lower in African ancestry individuals. Each HLA-B allele group is associated with specific promoter sequences. This HLA-B variation resource may improve HLA imputation accuracy and disease-association studies and provide evolutionary insights regarding HLA-B genetic diversity in human populations.-
Descrição: dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)-
Descrição: dc.descriptionMolecular Genetics and Bioinformatics Laboratory School of Medicine São Paulo State University - Unesp, São Paulo-
Descrição: dc.descriptionINSERM Ecole Centrale Nantes Center for Research in Transplantation and Translational Immunology Nantes Université, UMR 1064-
Descrição: dc.descriptionDepartment of Genetics and Evolutionary Biology Biosciences Institute University of São Paulo (USP), São Paulo-
Descrição: dc.descriptionUniFSP Centro Universitário Sudoeste Paulista, São Paulo-
Descrição: dc.descriptionHuman Genome and Stem Cell Research Center University of São Paulo, São Paulo-
Descrição: dc.descriptionHospital Israelita Albert Einstein, São Paulo-
Descrição: dc.descriptionMedical-Surgical Nursing Department School of Nursing University of São Paulo, São Paulo-
Descrição: dc.descriptionDepartamento de Química Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São Paulo, São Paulo-
Descrição: dc.descriptionMolecular Genetics and Bioinformatics Laboratory School of Medicine São Paulo State University - Unesp, São Paulo-
Formato: dc.format634-646-
Idioma: dc.languageen-
Relação: dc.relationHLA-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectevolutionary aspects-
Palavras-chave: dc.subjecthaplotypes-
Palavras-chave: dc.subjectHLA-B-
Palavras-chave: dc.subjectNGS-
Palavras-chave: dc.subjectpolymorphism-
Palavras-chave: dc.subjectvariability-
Palavras-chave: dc.subjectworldwide populations-
Título: dc.titleImmunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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