Abstract
In the present study, HLA allele and haplotype frequencies were studied using the HLA data of 9277 Croatian unrelated individuals, typed using high-resolution methods for the HLA-A, -B, -C, and -DRB1 loci. The total numbers of observed alleles were 47 for HLA-A, 88 for HLA-B, 34 for HLA-C, and 53 for HLA-DRB1. HLA-A∗02:01 (29.5%), B∗51:01 (10.5%), C∗04:01 (15.8%), and DRB1∗16:01 (10.4%) were the most frequent alleles in the Croatian general population. The three most frequent haplotypes were HLA-A∗01:01~C∗07:01~B∗08:01~DRB1∗03:01 (4.7%), HLA-A∗03:01~C∗07:02~B∗07:02~DRB1∗15:01 (1.7%), and HLA-A∗02:01~C∗07:01~B∗18:01~DRB1∗11:04 (1.5%). Allele and haplotype frequencies were compared between national and regional data, and differences were observed, particularly in the North Croatia region. The data has potential use in refining donor recruitment strategies for national registries of volunteer hematopoietic stem cell donors, solid organ allocation schemes, and the design of future disease and anthropological studies.
Highlights
The Human Leukocyte Antigen (HLA) genes have been the focus of numerous studies in the past decades to their key role in processes of immune recognition; on the one hand, and an extensive polymorphism reflected in both the large number of genes and their immense allelic variety on the other
As the first part of the analysis, we compared the alleles observed among individuals included in the present study with the most recent catalogue of common and well-defined (CWD) alleles by the European Federation for Immunogenetics (EFI) [18]
This comparison revealed that 165 (81.7%) of HLA alleles detected in this study have been included in the EFI CWD catalogue
Summary
The Human Leukocyte Antigen (HLA) genes have been the focus of numerous studies in the past decades to their key role in processes of immune recognition; on the one hand, and an extensive polymorphism reflected in both the large number of genes and their immense allelic variety on the other. A very large proportion of these studies have been population studies, since knowledge about the HLA polymorphism in a given population has extensive applications, among which solid organ transplantation and allogeneic hematopoietic stem cell transplantation (allo-HSCT) from an unrelated donor are one of the most important ones. The importance of HLA polymorphism in solid organ transplantation arises from the direct correlation between the transplantation outcome and HLA matching of the recipient and the donor. The development of the allo-HSCT program is highly dependent on the existence of volunteer HSC donor registries since these registries provide an HLA-matched unrelated donor (MUD) for those patients who do not have an HLAidentical sibling. The number of HSCTs preformed from an unrelated donor is constantly increasing worldwide, as well as in Croatia, and it is closely followed by the parallel improvements and the expansion of volunteer HSC donor registries.
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