Title |
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma
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Published in |
Blood, September 2018
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DOI | 10.1182/blood-2018-06-855296 |
Pubmed ID | |
Authors |
Amit Sud, Hauke Thomsen, Giulia Orlando, Asta Försti, Philip J. Law, Peter Broderick, Rosie Cooke, Fadi Hariri, Tomi Pastinen, Douglas F. Easton, Paul D.P. Pharoah, Alison M. Dunning, Julian Peto, Federico Canzian, Rosalind Eeles, ZSofia Kote-Jarai, Kenneth Muir, Nora Pashayan, Daniele Campa, the PRACTICAL Consortium, Per Hoffmann, Markus M. Nöthen, Karl-Heinz Jöckel, Elke Pogge von Strandmann, Anthony J. Swerdlow, Andreas Engert, Nick Orr, Kari Hemminki, Richard S. Houlston |
Abstract |
To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of seven genome-wide association studies totalling 5,325 HL cases and 22,423 controls. We identify five 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 five new and 13 known risk loci implicates dysfunction of the germinal centre 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. |
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Geographical breakdown
Country | Count | As % |
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United Kingdom | 4 | 22% |
Spain | 3 | 17% |
United States | 3 | 17% |
Peru | 1 | 6% |
Unknown | 7 | 39% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 13 | 72% |
Scientists | 3 | 17% |
Science communicators (journalists, bloggers, editors) | 2 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 48 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 10 | 21% |
Student > Bachelor | 7 | 15% |
Student > Ph. D. Student | 5 | 10% |
Student > Master | 4 | 8% |
Other | 2 | 4% |
Other | 6 | 13% |
Unknown | 14 | 29% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 11 | 23% |
Nursing and Health Professions | 2 | 4% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 2% |
Agricultural and Biological Sciences | 1 | 2% |
Other | 5 | 10% |
Unknown | 16 | 33% |