High-Throughput Genotyping of Over Two Million Samples: Workflow and Allele Frequencies.
Fiche publication
Date publication
janvier 2020
Journal
Frontiers in immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak, Dr CARAPITO Raphaël
Tous les auteurs :
Klussmeier A, Massalski C, Putke K, Schäfer G, Sauter J, Schefzyk D, Pruschke J, Hofmann J, Fürst D, Carapito R, Bahram S, Schmidt AH, Lange V
Lien Pubmed
Résumé
MICA and MICB are ligands of the NKG2D receptor and thereby influence NK and T cell activity. gene polymorphisms, expression levels and the amount of soluble MICA/B in the serum have been linked to autoimmune diseases, infections, and cancer. In hematopoietic stem cell transplantation, matching between donor and patient has been correlated with reduced acute and chronic graft-vs.-host disease and improved survival. Hence, we developed an extremely cost-efficient high-throughput workflow for genotyping for newly registered potential stem cell donors. Since mid-2017, we have genotyped over two million samples using NGS amplicon sequencing for exons 2-5. In donors of German origin, * is the most common allele with a frequency of 42.3%. It is followed by * (11.7%) and * (8.8%). The three most common alleles are * (43.9%), * (21.7%), and * (18.9%). In general, is less diverse than and only 6 alleles, instead of 15, account for a cumulative allele frequency of 99.5%. In 0.5% of the samples we observed at least one allele of or which has so far not been reported to the IPD/IMGT-HLA database. By providing typed voluntary donors, clinicians become empowered to include into their donor selection process to further improve unrelated hematopoietic stem cell transplantation.
Mots clés
MICA, MICB, NGS, allele, genotyping, hematopoietic stem cell transplantation, high-throughput, next generation sequencing
Référence
Front Immunol. 2020 ;11:314