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The distribution of HLA haplotypes in the ethnic groups that make up the Brazilian Bone Marrow Volunteer Donor Registry (REDOME)

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Abstract

The Registries of Bone Marrow Donors around the world include more than 30 million volunteer donors from 57 different countries, and were responsible for over 17,000 hematopoietic stem cell transplants in 2016. The Brazilian Bone Marrow Volunteer Donor Registry (REDOME) was established in 1993 and is the third largest registry in the world with more than 4.3 million donors. We characterized HLA allele and haplotypes frequencies from REDOME comparing them with the donor self-reported race group classification. Five-locus haplotype frequencies (A~C~B~DRB1~DQB1) were estimated for each of the six race groups, resolving phase and allelic ambiguity using the expectation–maximization (EM) algorithm. The top 100 haplotypes in the race groups were separated into eight clusters of haplotypes, based on haplotype similarity, using CLUTO. We present HLA allele and haplotype frequency data from six race groups from 2,938,259 individuals from REDOME. The most frequent haplotype was the same for all groups: A*01:01g~C*07:01g~B*08:01g~DRB1*03:01g~DQB1*02:01g. Some frequent haplotypes such as A*02:01g~C*16:01g~B*44:03~DRB1*07:01g~DQB1*02:01g was not found in people with Preta (Sub-Saharan African descent). A cluster including Branca (European) and Parda or non-informed (admixed) could be distinguished from both Preta (SubSaharan) and Indígena (Amerindian) groups, and from the Amarela (Asian) ones, which clustered with their original population. These results have implications on cross-population matching and can help in donor searches and population-based recruitment strategies.

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Acknowledgements

We thank Michael Wright for the critical revision and language edition of the manuscript.

Funding

This work is partly supported by a grant from Brazil Health Ministry – Transplant National System (proc. 25000.210075/2012-70). LCP was awarded as Short Period NMDP Visiting Scientist (Brazil National Research Council CNPq – proc. 453199/2015-1).

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Authors and Affiliations

  1. Bioinformatics Research, National Marrow Donor Program, Minneapolis, MN, USA

    Michael Halagan & Martin Maiers

  2. Brazilian Bone Marrow Registry (REDOME), Instituto Nacional do Câncer, Ministério da Saúde, Rio de Janeiro, RJ, Brazil

    Danielli Cristina Oliveira & Juliana Fernandes Cardoso

  3. Faculty of Medical Sciences, Belo Horizonte, MG, Brazil

    Raquel A. Fabreti-Oliveira

  4. IMUNOLAB–Histocompatibility Laboratory, Belo Horizonte, MG, Brazil

    Raquel A. Fabreti-Oliveira

  5. JRM-Investigações Imunológicas, Rio de Janeiro, RJ, Brazil

    Maria Elisa Hue Moraes

  6. Laboratório de Imunogenética, Universidade Estadual de Maringá, Maringá, PR, Brazil

    Jeane Eliete Laguila Visentainer

  7. Laboratório de Imunogenética, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil

    Noemi Farah Pereira

  8. Immunogenetics Laboratory, Instituto Nacional do Câncer, Ministério da Saúde, Rio de Janeiro, RJ, Brazil

    Matilde Romero

  9. Histocompatibility and Cryopreservation Laboratory, Rio de Janeiro State University, Rio de Janeiro, RJ, Brazil

    Juliana Fernandes Cardoso & Luís Cristóvão Porto

  10. Laboratório de Histocompatibilidade e Criopreservação, Universidade do Estado do Rio de Janeiro, Av. Marechal Rondon 381, São Fxco Xavier, Rio de Janeiro, 20950-003, Brazil

    Luís Cristóvão Porto

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  1. Michael Halagan
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  2. Danielli Cristina Oliveira
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  3. Martin Maiers
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  4. Raquel A. Fabreti-Oliveira
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Corresponding author

Correspondence to Luís Cristóvão Porto.

Electronic supplementary material

Supplementary Table S1

Top 100 HLA Allele Frequency per race in REDOME. CWD_2; - Common and well documented alleles version 2, C- common, WD well documented; race self-declared – IBGE classification): AMARELA (Asian descent); BRANCA (European descent); INDIGENA (Amerindian); NAO INFORMADO (Non informed); PARDA (Admixed); PRETA (Sub-Saharan African descent); HLA alleles in populations (Solberg et al. 2008): 0 - non reported, 1 - reported: AUS – Australia; CAS -; EUR - Europe; NAF – north Africa; NAM - North America; NEA - northeast Asia; OCE - Oceania; SAM - South America; SAS -; SEA - southeast Asia; SSA - sub-Saharan Africa; WAS -; sum – Number of Populations where the allele has been reported. (XLSX 96 kb)

Supplementary Table S2

Hardy Weinberg test results of the five HLA loci. (XLSX 12 kb)

Supplementary Table S3

Top 100 HLA haplotypes Frequency per race in REDOME. Race self-declared – IBGE classification: AMARELA (Asian descent); BRANCA (European descent); INDIGENA (Amerindian); NAO INFORMADO (Non informed); PARDA (Admixed); PRETA (SubSaharan African descent) (XLSX 20 kb)

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Halagan, M., Oliveira, D.C., Maiers, M. et al. The distribution of HLA haplotypes in the ethnic groups that make up the Brazilian Bone Marrow Volunteer Donor Registry (REDOME). Immunogenetics 70, 511–522 (2018). https://doi.org/10.1007/s00251-018-1059-1

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