PROFILE AND ALLELIC FREQUENCY OF HLA GENES IN THE POPULATION OF ESPÍRITO SANTO’S STATE

Abstract

The 1990 Human Genome Project was an international public program that sought to map the human genome and understand the functions of each gene. It provided a worldwide incentive for scientific production, resulting in major technological advances in the area of ​​genetic sequencing, driving the evolution of techniques from the Sanger method (1970s) to the Next Generation Sequencing (NGS) currently used. This technique is widely used in HLA genetic typing, a very important piece of information for the success of organ and tissue transplants, especially bone marrow, where compatibility must be almost 100%. This project aims to present the allele frequency and HLA profile of the population of Espírito Santo (ES), obtained through four years of application of the NGS technique in the state of ES. This study analyzed the HLA genetic profile of the population of ES through 10,237 genetic typing reports performed between 2020 and 2024 in the only histocompatibility laboratory in the state. Using NGS data from the TSV (analysis software), allele frequencies were compared to international populations. The most frequent alleles corresponded mainly to European populations and caucasian descendants, with a surprising presence of Asian profiles, despite the low representation of Asian individuals in the state. A significant occurrence of the HLA-B*51:01:01 allele was also observed, associated with the risk of Behçet's disease, indicating the need for further studies to investigate the genetic predisposition to this condition among Espírito Santo residents. The research contributes to local genetic understanding, assisting public health in donation and transplant campaigns.