Abstract
Transylvania is a historical region in the northwestern part of Romanian with a rather heterogeneous population. Our study is the first to determine human leukocyte antigen (HLA) profiles in a large population sample from this region and to compare them with other European population groups. HLA genes were examined in 2,794 individuals using the Single Specific Primer-Polymerase Chain Reaction (SSP-PCR) and Polymerase Chain Reaction Sequence-Specific Oligonucleotide (PCR-SSO) methods. All samples were tested for the HLA-A locus, 2,773 for HLA-B, 1,847 for HLA-C, and 2,719 for HLA-DRB1 loci. HLA gene frequency data from several European population groups (as presented in studies involving more than 1,000 individuals) served as reference in comparison with the local sample. The distribution of HLA genes in the studied population group was heterogeneous, as the Hardy-Weinberg equilibrium was statistically significant (P value < 0.01). The most common genes found in our sample group were A∗02 (0.27%), B∗35 (0.14%), C∗07 (0.25%), and DRB1∗11 (0.19%). The most common haplotype was A∗01~B∗08~C∗07~DRB1∗03 (1.26% in 1,770 individuals with complete data). This analysis confirmed the known heterogeneity of the Transylvanian population. The study indicates that the European population groups located in close vicinity (those from Serbia, Hungary, Wallachia, and Croatia) are genetically closest to the Transylvanian population.
Highlights
The major histocompatibility complex (MHC) is a large gene complex with an integral role in the immune system
We identified 18 human leukocyte antigen (HLA)-A different genes in 2,794 subjects, 30 HLA-B genes in 2,773 individuals, 13 HLA-C genes in 1,847 individuals, and 13 HLA-DRB1 genes in 2,719 individuals
We considered being of interest to compare Transylvania with its neighboring countries and regions: Ukraine, Moldavia and the Republic of Moldova, Wallachia and Bulgaria, and Serbia and Hungary
Summary
The major histocompatibility complex (MHC) is a large gene complex (approximately 3.5 million base pairs) with an integral role in the immune system. Known as the human leukocyte antigen (HLA), the human MHC-encoded glycoproteins are vital in the body’s immune defence, being specialized in the presentation of short peptides to T cells [1]. The extensive polymorphism at the HLA loci reflects the importance of the encoded molecules in human transplantation and autoimmunity, as well as in regard to drug response and susceptibility to infection [3]. Compatibility in the HLA system is vital in hematopoietic stem cell transplantation [4]. The distribution of the HLA genes is a particularity of any given ethnic group. Functional differences at the HLA loci observed between related populations, better explained by changes in the frequency of an existing allele than by
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