title: The HLA-A, -B and -DRB1 polymorphism in a large dataset of South Brazil bone marrow donors from Rio Grande do Sul.
abstract: Human leukocyte antigen (HLA) genes are very informative in population genetics studies and their variability has been widely used to reconstruct the history of geographic and/or demographic expansions of human populations. The characterization of HLA diversity at the population level is also fundamental in clinical studies, particularly for bone marrow transplantation programs. In this study, we investigated the HLA molecular variation in Rio Grande do Sul, South Brazil, in order to identify possible regional differences across this state. More than 97,000 bone marrow donors were typed at the HLA- A, -B and -DRB1 loci and analyzed by considering two kinds of subdivisions based on both self-identified ethnicity and place of residence: (a) the official geographic subdivision defined by the Brazilian Institute of Geography and Statistics and (b) known information about the colonization history of the state. HLA allele and haplotype frequencies were estimated and compared among the defined subgroups. The results indicate a lack of correlation between genetic variation and geography and thus no clear HLA genetic structure based on geographic criteria. On the other hand, major differences were observed regarding ethnicity. In addition, local populations from Rio Grande do Sul were found to be genetically similar to their corresponding parental European populations from Germany, Italy and Portugal, as documented by historical data. Overall, this study provides a thorough characterization of the HLA genetic variation in Rio Grande do Sul and a better understanding of its demographic history, being most useful for the development of more efficient strategies in bone marrow donors' recruitment.
authors.affiliation: Instituto Nacional de Genética Médica Populacional (iNaGeMP), Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: J A
authors.identifier: http://orcid.org/0000-0002-6437-789X
authors.initials: JA
authors.lastname: Boquett
authors.affiliation: Laboratory of Anthropology, Genetics and Peopling History, Department of Genetics and Evolution - Anthropology Unit, University of Geneva, Geneva, Switzerland.|Institute of Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland.
authors.forename: J M
authors.initials: JM
authors.lastname: Nunes
authors.affiliation: Laboratory of Anthropology, Genetics and Peopling History, Department of Genetics and Evolution - Anthropology Unit, University of Geneva, Geneva, Switzerland.|Transplantation Immunology Unit and National Reference Laboratory for Histocompatibility, Department of Genetic and Laboratory Medicine, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: S
authors.identifier: http://orcid.org/0000-0001-6675-5287
authors.initials: S
authors.lastname: Buhler
authors.affiliation: Instituto Nacional de Genética Médica Populacional (iNaGeMP), Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.|Advanced Visualization Laboratory (VIZLab), Universidade do Vale dos Sinos, São Leopoldo, Brazil.
authors.forename: M Z
authors.initials: MZ
authors.lastname: de Oliveira
authors.affiliation: Department of Immunology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: L F
authors.initials: LF
authors.lastname: Jobim
authors.affiliation: Department of Immunology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Jobim
authors.affiliation: Instituto Nacional de Genética Médica Populacional (iNaGeMP), Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: N J R
authors.initials: NJ
authors.lastname: Fagundes
authors.affiliation: Instituto Nacional de Genética Médica Populacional (iNaGeMP), Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: L
authors.initials: L
authors.lastname: Schüler-Faccini
authors.affiliation: Laboratory of Anthropology, Genetics and Peopling History, Department of Genetics and Evolution - Anthropology Unit, University of Geneva, Geneva, Switzerland.|Institute of Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Sanchez-Mazas
keywords: HLA; bone marrow donors; genetic diversity; population genetics