HLA-E typing of more than 2.5 million potential hematopoietic stem cell donors: Methods and population-specific allele frequencies

Hum Immunol. 2021 Jul;82(7):541-547. doi: 10.1016/j.humimm.2020.12.008. Epub 2020 Dec 30.

Abstract

We developed a cost-efficient workflow for genotyping HLA-E by NGS and applied it for genotyping more than 2.5 million potential stem cell donors. The data obtained were used to determine HLA-E allele frequency distributions for 104 populations. Our results confirm the known dominance of the alleles E*01:01 and E*01:03, which have a combined frequency of more than 0.99 in 97 of the 104 populations. E*01:01 is more frequent in Africa and the western part of South America, E*01:03 in Southeast and East Asia. E*01:03 shows a pronounced regional substructure at the high-resolution level with E*01:03:01G being particularly common in a large connected region extending from Turkey to China, E*01:03:02G in Northwestern Europe and E*01:03:03 in Central and Eastern Europe as well as Central Asia. The presented results are relevant both as a basis for further population genetics studies and for optimizing stem cell donor searches.

Keywords: Allele frequency distributions; Donor registry; HLA-E; Population genetics; Unrelated haematopoietic stem cell transplantation.

MeSH terms

  • Alleles*
  • Gene Frequency
  • HLA Antigens / genetics*
  • HLA-E Antigens
  • Hematopoietic Stem Cells / metabolism*
  • Histocompatibility Antigens Class I / genetics*
  • Histocompatibility Testing*
  • Humans
  • Tissue Donors*

Substances

  • HLA Antigens
  • Histocompatibility Antigens Class I