HLA-A, HLA-B and HLA-DRB1 haplotype frequencies in Piauí's volunteer bone marrow donors enrolled at the Brazilian registry

Abstract

This study aimed to report the antigen and haplotype frequencies (HFs) of volunteer bone marrow donors (VBMDs) from the state of Piauí who were enrolled in the National Volunteer Bone Marrow Donor Registry (REDOME). The research subjects were 21,943 volunteer bone marrow donors, predominantly young adult women (53.3%). The most frequent allelic group was HLA-A2, followed by -DRB1*13, -DRB1*04, -DRB1*07, -B*15, -B∗35, -B*44, -A*24 and -A*03. Of the 2,704 haplotypes observed, the three most frequent haplotypes were A*29 B*44 DRB1*07 (1.45%), A*01 B*08 DRB1*03 (1.4%) and A*03 B*07 DRB1*15 (0.92%). These three haplotypes were in linkage disequilibrium. PCA showed that 98% of the VBMDs have HLA allele frequencies that are very similar to those from Teresina, the capital city of Piauí. According to the PCA results, these municipalities are distributed with a close proximity to Teresina, which in turn has a close genetic proximity to the Hispanic ethnicity, intermediate proximity to Caucasians and Africans and a distant kinship to Amerindians. The hierarchical proximity of the population of Piauí to the Portuguese and Hispanic populations to shows the strong influence of the latter on the former.

Keywords: BMDR; BMT; HCA; HLA; LD; NMDP; PCA; PCR-SSOPH; REDOME; REREME; VBMD; bone marrow donor registries; bone marrow transplantation; hierarchical cluster analysis; human leukocyte antigen; linkage disequilibrium; national marrow donor program; national registry of bone marrow receptors; national registry of volunteer bone marrow donors; polymerase chain reaction-sequence-specific oligonucleotide probe hybridization; principal component analysis; volunteer bone marrow donors.