title: High-resolution human leukocyte antigen allele and haplotype frequencies of the Polish population based on 20,653 stem cell donors.
abstract: We present high-resolution allele and haplotype frequency (HF) estimations of the Polish population based on more than 20,000 registered stem cell donors. Sequencing-based donor human leukocyte antigen (HLA) typing led to unambiguous typing results in most cases (between 94.3% for HLA-DRB1 and 96.9% for HLA-B). HF estimations were carried out with a new, validated implementation of the expectation-maximization algorithm that allowed processing of data with ambiguities. Our results confirm several earlier results, for example, the relative commonness of the haplotype A*25:01 g, B*18:01 g, C*12:03, DRB1*04:01 in the Polish population. Because of the large sample size, we were able to obtain results of unprecedented accuracy. The estimated population-specific HFs were then used to analyze questions of strategic donor registry planning. Simulated matching probabilities by donor file size suggest that there is a need for intense donor recruitment efforts in Poland despite the large German donor registry and the genetic relatedness of both populations. Based on the current German registry size of approximately 4 million donors, the recruitment of 100,000 Polish donors would produce a stronger increase in matching probabilities for Polish patients than the recruitment of 3.3 million additional German donors.
authors.affiliation: DKMS German Bone Marrow Donor Center, Tübingen, Germany. schmidt@dkms.de
authors.forename: Alexander H
authors.initials: AH
authors.lastname: Schmidt
authors.forename: Ute V
authors.initials: UV
authors.lastname: Solloch
authors.forename: Julia
authors.initials: J
authors.lastname: Pingel
authors.forename: Daniel
authors.initials: D
authors.lastname: Baier
authors.forename: Irina
authors.initials: I
authors.lastname: Böhme
authors.forename: Kinga
authors.initials: K
authors.lastname: Dubicka
authors.forename: Stephan
authors.initials: S
authors.lastname: Schumacher
authors.forename: Claudia
authors.initials: C
authors.lastname: Rutt
authors.forename: Aleksander B
authors.initials: AB
authors.lastname: Skotnicki
authors.forename: Jacek
authors.initials: J
authors.lastname: Wachowiak
authors.forename: Gerhard
authors.initials: G
authors.lastname: Ehninger
mesh_terms: D000483:Alleles; D005787:Gene Frequency / Q000235:genetics*; D006680:HLA Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D011044:Poland; D012042:Registries; D015203:Reproducibility of Results; D013234:Stem Cells; D014019:Tissue Donors
chemical_list: D006680:HLA Antigens