P074Haplotype and allele frequencies in different populations for HLA-E
2018
Aim HLA-E has been reported to impact the outcome of hematopoietic stem cell transplantations (HSCT). Starting July 2017, DKMS added HLA-E to the default typing profile for newly enrolled potential donors for HSCT. Since then, DKMS Germany has typed more than 390,000 samples for HLA-E together with the HLA loci A, B, C, DRB1, DQB1, and DPB1. In this work, we present 7-locus haplotype and allele frequencies for donors from Germany (N = 325,955), Turkey (N = 10,649), Poland (N = 4144), Russia (N = 2896) and Italy (N = 2035). Methods HLA-E is typed by our well-establish high-throughput approach relying on an amplicon spanning exons 2 and 3. Amplicons are sequenced by Illumina MiSeq or HiSeq 2500 instruments without fragmentation, preserving phase information. Reads are analysed by our in–house typing software neXtype. Typing results comprise the high-resolved alleles HLA-E*01:01:02, 01:03:03, 01:04, 01:05, 01:07 and 01:08 N and three G-groups: HLA-E*01:01:01G, 01:03:01G and 01:03:02G. Upon enrollment with DKMS Germany, potential stem cell donors provide information on their self-assessed ethnic background by statement of their respective country of origin. Using our open-source software Hapl-o-Mat, we computed frequencies on g-group resolution level for both, alleles and 7-loci haplotypes. Results The most common allele group in all five populations is HLA-E*01:01 g with a fairly similar frequency (f Germany = 55.5%, f Turkey = 53.4%, f Poland = 56.9%, f Russia = 57.0%, f Italy = 53.0%). Frequencies for HLA-E*01:03 g are (f Germany = 44.4%, f Turkey = 46.6%, f Poland = 43.1%, f Russia = 43.0%, f Italy = 46.9%). In all populations, except Russia, HLA-E*01:05 is the third most common allele. In the Russian population only the two dominant alleles were observed. Conclusions Our approach provided reliable HLA-E typing data for a large number of samples. In all considered populations, identical allele groups are dominant with similar frequencies.
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