Polimorfismo e frequências alélicas de alta resolução dos genes HLA na população do Espírito Santo (REDOME, 2021-2024)

Abstract

Objective: To analyze the HLA types present in the population of Espírito Santo. To collect HLA typing data from a bone marrow donor bank. To verify the frequency of these genes in the studied population. To generate haplotypes for this population. To determine the prevalence of HLA genes and markers of autoimmune diseases in this population. Methods: The HLA genotyping results of 3,101 voluntary bone marrow donors from the state of Espírito Santo who registered with Redome (Brazilian Bone Marrow Donor Registry) between 2021 and 2024 were consulted from the database of LIG – Biologia Molecular e Imunogenética laboratory of Vitória, Espírito Santo. The results were cataloged, and allele frequencies were determined using the direct counting method. Haplotypes were calculated using the Expectation-Maximization (EM) algorithm, implemented by the Pypop program: Python for Population Genomics v1.0.0. Donors were also segregated into 6 groups according to self-reported ethnicity: White, Brown, Black, Asian, Indigenous, and ND (not defined/not informed), and grouped without segregation (general group). Results: 33.18% were male, 66.82% female. 1.67% declared themselves as asian; 38.92% as white; 0.16% as indigenous; 2.12% did not declare color or ethnicity; 14.35% as black and 42.76% as mixed. 31.73% were between 18 and 22 years of age; 31.18% between 23-27; 22.54% between 28-32 and 14.54% were between 33-35. At the HLA-DQA1, HLA-DPA1 and HLA-DPB1 loci, significant deviations from HWE were observed. Overall, 625 different alleles were found in the 5 characterized populations. The most common alleles identified were HLA-A*02:01:01; HLA-C*04:01:01; HLA-B*35:01:01; HLADRB1*07:01:01; HLA-DQA1*01:02:01; HLA-DQB1*05:01:01; HLA-DPA1*01:03:01; HLA-DPB1*04:01:01. The most frequent haplotypes found were HLAA*01:01:01~HLA-B*08:01:01~HLA-C*07:01:01; HLA-DRB1*07:01:01~HLADQA1*02:01:01~HLA-DQB1*02:02:01.