Balkan Journal of Medical Genetics

HIGH-RESOLUTION HLA-DRB1 ALLELE FREQUENCIES IN A ROMANIAN COHORT OF STEM CELL DONORS
Caragea ÌÀ, Ursu IR, Visan DL, Maruntelu I, Iordache P, Constantinescu A, Tizu M, Tălăngescu A, Constantinescu I
*Corresponding Author: Lect., MD, PhD Radu-Ioan Ursu, Carol Davila University of Medicine and Pharmacy, Department of Medical Genetics, Bucharest, Romania, Str. Batistei 12, Bucharest, Romania; tel.: 0040736167020; e-mail: dr.radu.ursu@gmail.com
page: 43

INTRODUCTION

The Major Histocompatibility Complex (MHC) has been the subject of much scientific interest in recent years especially due to the numerous studies on the HLA genes, part of the MHC [1-2]. The human leukocyte antigen sys- tem (HLA) is one of the most polymorphic genetic systems in the human genome [1,3]. Accurate HLA allele identifica- tion is essential for both anthropological research and for the field of organ and stem cell transplantation. Because more and more HLA alleles are being discovered through multiple studies, Next Generation Sequencing (NGS) HLA genotyping is necessary [3-4]. Using NGS for HLA typ- ing has two advantages, one being able to resolve allelic ambiguities and the other in establishing updated allele frequencies [3-4]. These advantages will support the use of HLA types in research and clinical medicine in more precise and thorough ways [1-4]. HLA-DRB1 is one of HLA class II’s beta chain para- logues. Alpha (DRA) and beta (DRB), both of which are anchored in the membrane, form the heterodimer that is the class II molecule [5-7]. Presenting peptides derived from extracellular proteins, it plays a pivotal role within the immune system. Antigen-presenting cells, or APCs (B lymphocytes, dendritic cells, and macrophages), express class II molecules [6-10]. Professional antigen-presenting cells (APCs) in complex with the alpha chain HLA-DRA present antigenic peptides for recognition by the alpha-beta T cell receptor (TCR) on HLA-DRB1-restricted CD4- positive T cells [6-10]. This directs the actions of T-helper effectors that are specific to antigens, thereby facilitating the elimination of infectious agents and transformed cells through antibody-mediated immune response and macro- phage activation [8-10]. Genetic variants have been proven to play an es- sential role in most of the common human disorders (i.e. obesity, type II diabetes, hypertension, neurologi- cal disease, cancer, etc.) [11-12], research conducted on HLA-DRB1 frequencies on a variety of populations has also linked HLA-DRB1 alleles with the susceptibility and clinical response for many disorders, such as rheu- matoid arthritis, sarcoidosis, Goodpasture syndrome and multiple sclerosis [13–20]. In order to comprehend the risk for these disorders, it is crucial first to determine the frequencies of the various HLA-DRB1 alleles in the Romanian population. The goal of the current study was to determine the high-resolution frequencies of the HLA-DRB1 alleles among a healthy Romanian cohort of healthy stem cell donors whose data was analyzed.

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