P008 Uncommon or unexpected DRB1-DRB3/4/5 associations in NMDP-BE the match recruitment donor population

Autor: Craig Malmberg, Jane Kempenich, Jason Dehn, Miranda Bauer, Nezih Cereb, Chelsey Kornetzke
Rok vydání: 2017
Předmět:
Zdroj: Human Immunology. 78:59
ISSN: 0198-8859
DOI: 10.1016/j.humimm.2017.06.068
Popis: Aim Since 2016, the National Marrow Donor Program (NMDP) has typed HLA-DRB3/4/5 on all newly recruited members added to the Be The Match Registry®. Gragert et al. published 6-locus haplotype frequencies in 2013 provided at https://bioinformatics.bethematchclinical.org/hla-resources . Registry HLA typing often was not performed consistently regarding the interrogation and reporting of DRB3/4/5, therefore absence of alleles could not be confirmed. The aim of our study was to use an unselected group of subjects typed at a lab that consistently interrogated DRB3/4/5 to better understand relative frequencies by ethnic group of historically uncommon DRB3/4/5∼DRB1 associations. Methods A retrospective analysis of NMDP donors typed consecutively using NGS at HistoGenetics, LLC (Ossining, NY) in 2016 (N = 123,555) was performed. NMDP new donor recruitment goals target 50% from non-white populations, with our study group composed of 57.4% White, 7.6% African American/Black, 21.2% Hispanic, 12.3% Asian, 1.0% Native American and 0.4% Unknown. Expected associations were defined as DRB3 with DRB1 allele families 03, 11, 12, 13, 14; DRB4 with DRB1 04, 07, 09; DRB5 with DRB1 15, 16; and absence of DRB3/4/5 genes for DRB1 01, 08, 10. Any deviations were considered unexpected. Results In total, 182 sample IDs with unexpected DRB3/4/5∼DRB1 associations were identified. Of these, 34 samples (18.7%) were confirmed by additional typing. Table 1 shows the reported DRB1 allele with the unexpected association, categorized by ethnic background. Many of these uncommon associations were also identified in the Gragert 2013 data, the primary exception being the absence at DRB4. Unexpected associations were reported in Conclusions While general patterns of DRB3/4/5∼DRB1 linkage exist, exceptions are present, often specific to haplotype and/or ethnic background. Future reference data can be improved with more consistent reporting of genes interrogated and resulting type to understand population frequencies. Download : Download high-res image (368KB) Download : Download full-size image
Databáze: OpenAIRE
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