Allele and extended haplotype polymorphism of HLA‐A, ‐C, ‐B, ‐DRB1 and ‐DQB1 loci in Polish population and genetic affinities to other populations

Abstract

Human leukocyte antigen (HLA)-A, -C, -B, -DRB1 and -DQB1 alleles were typed in 200 Polish healthy volunteers recruited for stem cell donor registry, using sequence-specific primer (SSP) and direct sequencing-based methods. Enhanced Bayesian approach of expectation maximization algorithm provided by phase platform was used for extended HLA haplotype inferences. The numbers of identified alleles (four-digit resolution) were 23, 23, 44, 27 and 18 alleles in HLA-A, -C, -B, -DRB1 and -DQB1 loci, respectively, of both northern and southern European frequency characteristics. The most frequent extended haplotypes were Cw*0701-B*0801-DRB1*0301-DQB1*0201 and Cw*0702-B*0702-DRB1*1501-DQB1*0602, found in 25 and 23 copies, respectively, in 400 tested chromosomes. The extended haplotype found in the Polish population with higher frequency than in other European population was A*2501-Cw*1203-B*1801-DRB1*1501-DQB1*0602 (six copies) and especially its class I fragment (14 copies). The neighbour-joining and correspondence analyses showed Central and northern European genetic affinities of Polish population. In most cases, the observed European allele and haplotype gradients display smooth topography around Polish population. Poles along with Western Slavs have their specific contribution in the demographic history of Europe. Our results will intensify the use of population data in stem cell donor search and can potentially improve current algorithms, facilitating selection of acceptable donors for patients in need of stem cell transplant.

HLA class II, MICA and PRL gene polymorphisms: the common contribution to the systemic lupus erythematosus development in Czech population

“…In our work we studied polymorphisms in three genes (HLA class II, MICA, PRL) located within the susceptible locus for SLE on the chromosome 6 [11,23,28]. Genes in this region show a high level of polymorphism and linkage disequilibrium.…”

“…The highly polymorphic major histocompatibility complex (HLA) which encoded the peptides class I and II for antigen and autoantigen presentation to CD8+ T and CD4+ T cells, respectively, is located within the SLE strongly susceptible region 6p22.3-21.1 [5,10]. HLA alleles frequency may vary among different population [11], are in linkage disequilibrium and may be predisposing markers for various autoimmune diseases [12]. SLE has been associated with extended HLA class I and II haplotypes: B*08 -DRB1*0301-DQA1*0501-DQB1*0201 and DRB1*1501-DQA*0102-DQB1*0602 [13,14] in Caucasian population.…”

The Patterns of MHC Association in Aplastic and Non-aplastic Paroxysmal Nocturnal Hemoglobinuria

“…Fifty PNH patients of European Polish ancestry were investigated in regard with MHC alleles and compared with 200 perfectly ethnically matched healthy controls (Nowak et al 2008). Patients were not treated with eculizumab prior to and during the study.…”

“…The DQB1*06:02 allele in the tested population remains in complete linkage disequilibrium with DRB1*15:01, but the last allele is associated with several different DQB1 alleles (Nowak et al 2008). In DRB1*15:01 carriers broad MHC selfpeptide presentation by DR15 molecule can be broader and disruption of autoimmune attack can be more efficient in the presence of DQB1*06:02 allele than in DRB1*15:01 individuals with alternative DQB1 allele not presented in the context of DR15.…”

Does a relationship of HLA B alleles with course of hepatitis C virus infection in children and youth and efficacy of its treatment exist?

“…Prawdopodobnie z tej przyczyny nie udało się potwierdzić znanych z piśmien-nictwa związków zmienności HLA B* z przebiegiem zakażenia HCV czy też ze skutecznością leczenia. [19]. Grupa alleli najczęściej występujących w badaniach własnych zgadza się z allelami pojawiają-cymi się najliczniej w populacji zdrowych osób.…”