| Literature DB >> 30194254 |
Amit Sud1, Hauke Thomsen2, Giulia Orlando1, Asta Försti2,3, Philip J Law1, Peter Broderick1, Rosie Cooke1, Fadi Hariri4, Tomi Pastinen4, Douglas F Easton5,6, Paul D P Pharoah5,6, Alison M Dunning5, Julian Peto7, Federico Canzian8, Rosalind Eeles1,9, ZSofia Kote-Jarai1, Kenneth Muir10,11, Nora Pashayan6,12, Daniele Campa13, Per Hoffmann14,15,16, Markus M Nöthen15,16, Karl-Heinz Jöckel17, Elke Pogge von Strandmann18, Anthony J Swerdlow1,19, Andreas Engert20, Nick Orr19, Kari Hemminki2,3, Richard S Houlston1.
Abstract
To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases and 22 423 control patients. We identify 5 new HL risk loci at 6p21.31 (rs649775; P = 2.11 × 10-10), 6q23.3 (rs1002658; P = 2.97 × 10-8), 11q23.1 (rs7111520; P = 1.44 × 10-11), 16p11.2 (rs6565176; P = 4.00 × 10-8), and 20q13.12 (rs2425752; P = 2.01 × 10-8). Integration of gene expression, histone modification, and in situ promoter capture Hi-C data at the 5 new and 13 known risk loci implicates dysfunction of the germinal center reaction, disrupted T-cell differentiation and function, and constitutive NF-κB activation as mechanisms of predisposition. These data provide further insights into the genetic susceptibility and biology of HL.Entities:
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Year: 2018 PMID： 30194254 PMCID： PMC6236462 DOI： 10.1182/blood-2018-06-855296
Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113