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Common and well-documented HLA alleles of German stem cell donors by haplotype frequency estimation

Hans-Peter Eberhard1, Alexander H Schmidt2, Joannis Mytilineos3,4,5

  • 1ZKRD Zentrales Knochenmarkspender-Register für die Bundesrepublik Deutschland, Ulm, Germany.

HLA
|August 18, 2018
PubMed

Insights

This study catalogs common and well-documented (CWD) human leukocyte antigen (HLA) alleles in the German population. The findings contribute to a global understanding of HLA diversity, crucial for stem cell transplantation.

Area of Science:

  • Immunogenetics
  • Population Genetics

Background:

  • Human Leukocyte Antigen (HLA) genes are highly polymorphic and crucial for immune response.
  • Establishing comprehensive catalogs of common and well-documented (CWD) alleles is vital for HLA typing and transplantation.
  • Previous CWD catalogs exist, but a specific focus on the German population is needed.

Purpose of the Study:

  • To create a catalog of CWD alleles for six key HLA loci (A, B, C, DRB1, DQB1, DPB1) in the German population.
  • To compare findings with existing CWD catalogs and assess the German contribution to global HLA diversity.

Main Methods:

  • Analysis of over 5 million hematopoietic stem cell donor records from German donor centers.
  • Estimation of allele and haplotype frequencies using a validated expectation-maximization algorithm.
  • Application of established CWD criteria for allele identification.

Main Results:

  • Identification of 2155 CWD alleles across the six studied HLA loci in the German donor population.
  • These CWD alleles represent approximately 20% of all HLA alleles at two-field resolution.
  • Substantial concordance was observed between the German CWD catalog and existing catalogs.

Conclusions:

  • The German donor population significantly contributes to the global pool of CWD HLA alleles.
  • The developed catalog enhances understanding of HLA diversity relevant for transplantation.
  • Standardized CWD criteria are essential for creating a comprehensive worldwide HLA catalog.

Keywords:
HLAallele frequencycommon and well-documented allele cataloghaplotype frequency estimationhematopoietic stem cell donor

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