Predicting an HLA-DPB1 expression marker based on standard DPB1 genotyping: Linkage analysis of over 32,000 samples.
作者： Bianca Schöne , Sabine Bergmann , Kathrin Lang , Ines Wagner , Alexander H. Schmidt
DOI: 10.1016/J.HUMIMM.2017.11.001
关键词:
摘要: The risk of acute graft-versus-host disease (GvHD) after hematopoietic stem cell transplantation is increased with donor-recipient HLA-DPB1 allele mismatching. single-nucleotide polymorphism (SNP) rs9277534 within the 3' untranslated region (UTR) correlates allotype expression and serves as a marker for permissive mismatches. Since not routinely typed, we analyzed 32,681 samples mostly European ancestry to investigate if can be reliably imputed from standard DPB1 genotyping. We confirmed previously-defined linkages between 18 alleles established additional 46 alleles. Based on these linkages, could predicted 99.6% based genotypes (99.99% concordance). demonstrate that 100% prediction accuracy achieved utilized exon 3 sequence information. genotyping 2 data alone allows no unambiguous but was estimated maintain 99% descent. conclude sufficient infer high accuracy. This information used select donors mismatches without directly screening rs9277534.
sci-hub.se 参考文章(16)
Marcelo A Fernández-Viña, John P Klein, Michael Haagenson, Stephen R Spellman, Claudio Anasetti, Harriet Noreen, Lee Ann Baxter-Lowe, Pedro Cano, Neal Flomenberg, Dennis L Confer, Mary M Horowitz, Machteld Oudshoorn, Effie W Petersdorf, Michelle Setterholm, Richard Champlin, Stephanie J Lee, Marcos De Lima, None, Multiple mismatches at the low expression HLA loci DP, DQ, and DRB3/4/5 associate with adverse outcomes in hematopoietic stem cell transplantation. Blood. ,vol. 121, pp. 4603- 4610 ,(2013) , 10.1182/BLOOD-2013-02-481945
Santiago Marco-Sola, Michael Sammeth, Roderic Guigó, Paolo Ribeca, The GEM mapper: fast, accurate and versatile alignment by filtration Nature Methods. ,vol. 9, pp. 1185- 1188 ,(2012) , 10.1038/NMETH.2221
Y. Kodera, , Worldwide network for blood and marrow transplantation Isbt Science Series. ,vol. 4, pp. 202- 203 ,(2009) , 10.1111/J.1751-2824.2009.01284.X
Bronwen E. Shaw, Theodore A. Gooley, Mari Malkki, J. Alejandro Madrigal, Ann B. Begovich, Mary M. Horowitz, Alois Gratwohl, Olle Ringdén, Steven G. E. Marsh, Effie W. Petersdorf, The importance of HLA-DPB1 in unrelated donor hematopoietic cell transplantation. Blood. ,vol. 110, pp. 4560- 4566 ,(2007) , 10.1182/BLOOD-2007-06-095265
Vinzenz Lange, Irina Böhme, Jan Hofmann, Kathrin Lang, Jürgen Sauter, Bianca Schöne, Patrick Paul, Viviane Albrecht, Johanna M Andreas, Daniel M Baier, Jochen Nething, Ulf Ehninger, Carmen Schwarzelt, Julia Pingel, Gerhard Ehninger, Alexander H Schmidt, Cost-efficient high-throughput HLA typing by MiSeq amplicon sequencing BMC Genomics. ,vol. 15, pp. 63- 63 ,(2014) , 10.1186/1471-2164-15-63
R Crocchiolo, E Zino, L Vago, R Oneto, B Bruno, S Pollichieni, N Sacchi, MP Sormani, J Marcon, T Lamparelli, R Fanin, L Garbarino, V Miotti, G Bandini, A Bosi, F Ciceri, A Bacigalupo, K Fleischhauer, P Scalari, M Bontempelli, O Prinoth, C Carcassi, R Marcenò, G Porfirio, G Rombolà, G Ferrioli, F Poli, M Scalamogna, F Rossi, L Mascaretti, S Albergoni, L Salvaneschi, M Salvaneschi, G Valentini, S Nesci, F Papola, A Scatena, G Mariotti, A Perrone, L Laurenti, P Grammatico, M Mariani, B Favoino, V Miotti, G Guizzardi, G Pontiero, P Leoni, A Rambaldi, M Casini, E Angelucci, D Baronciani, G La Nasa, G Milon, S Guidi, MT Van Lint, G Dini, P Corradini, R Milani, E Morra, P Marenco, G Lambertenghi Deliliers, F Onida, M Marcatti, L Castagna, P Pioltelli, C Selleri, L Zanesco, R Scimè, M Musso, EP Alessandrino, F Locatelli, G Visani, P Di Bartolomeo, F Papineschi, C Favre, Iori, Nonpermissive HLA-DPB1 disparity is a significant independent risk factor for mortality after unrelated hematopoietic stem cell transplantation Blood. ,vol. 114, pp. 1437- 1444 ,(2009) , 10.1182/BLOOD-2009-01-200378
R. Thomas, C. L. Thio, R. Apps, Y. Qi, X. Gao, D. Marti, J. L. Stein, K. A. Soderberg, M. A. Moody, J. J. Goedert, G. D. Kirk, W. K. Hoots, S. Wolinsky, M. Carrington, A Novel Variant Marking HLA-DP Expression Levels Predicts Recovery from Hepatitis B Virus Infection Journal of Virology. ,vol. 86, pp. 6979- 6985 ,(2012) , 10.1128/JVI.00406-12
B E Shaw, N P Mayor, N H Russell, J F Apperley, R E Clark, J Cornish, P Darbyshire, M E Ethell, J M Goldman, A-M Little, S Mackinnon, D I Marks, A Pagliuca, K Thomson, S G E Marsh, J A Madrigal, Diverging effects of HLA–DPB1 matching status on outcome following unrelated donor transplantation depending on disease stage and the degree of matching for other HLA alleles Leukemia. ,vol. 24, pp. 58- 65 ,(2010) , 10.1038/LEU.2009.239
E. Zino, A T-cell epitope encoded by a subset of HLA-DPB1 alleles determines nonpermissive mismatches for hematologic stem cell transplantation Blood. ,vol. 103, pp. 1417- 1424 ,(2003) , 10.1182/BLOOD-2003-04-1279
Alois Gratwohl, Marcelo C Pasquini, Mahmoud Aljurf, Yoshiko Atsuta, Helen Baldomero, Lydia Foeken, Michael Gratwohl, Luis Fernando Bouzas, Dennis Confer, Karl Frauendorfer, Eliane Gluckman, Hildegard Greinix, Mary Horowitz, Minako Iida, Jeff Lipton, Alejandro Madrigal, Mohamad Mohty, Luc Noel, Nicolas Novitzky, José Nunez, Machteld Oudshoorn, Jakob Passweg, Jon van Rood, Jeff Szer, Karl Blume, Frederic R Appelbaum, Yoshihisa Kodera, Dietger Niederwieser, One million haemopoietic stem-cell transplants: a retrospective observational study The Lancet Haematology. ,vol. 2, ,(2015) , 10.1016/S2352-3026(15)00028-9