Title |
Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
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Published in |
Nature Communications, December 2017
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DOI | 10.1038/s41467-017-00320-1 |
Pubmed ID | |
Authors |
Amit Sud, Hauke Thomsen, Philip J. Law, Asta Försti, Miguel Inacio da Silva Filho, Amy Holroyd, Peter Broderick, Giulia Orlando, Oleg Lenive, Lauren Wright, Rosie Cooke, Douglas Easton, Paul Pharoah, Alison Dunning, Julian Peto, Federico Canzian, Rosalind Eeles, ZSofia Kote-Jarai, Kenneth Muir, Nora Pashayan, The PRACTICAL consortium, Per Hoffmann, Markus M. Nöthen, Karl-Heinz Jöckel, Elke Pogge von Strandmann, Tracy Lightfoot, Eleanor Kane, Eve Roman, Annette Lake, Dorothy Montgomery, Ruth F. Jarrett, Anthony J. Swerdlow, Andreas Engert, Nick Orr, Kari Hemminki, Richard S. Houlston |
Abstract |
Several susceptibility loci for classical Hodgkin lymphoma have been reported. However, much of the heritable risk is unknown. Here, we perform a meta-analysis of two existing genome-wide association studies, a new genome-wide association study, and replication totalling 5,314 cases and 16,749 controls. We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10-8) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10-17), 6q23.3 (rs6928977, P = 4.62 × 10-11), 10p14 (rs3781093, P = 9.49 × 10-13), 13q34 (rs112998813, P = 4.58 × 10-8) and 16p13.13 (rs34972832, P = 2.12 × 10-8). Additionally, independent loci within the HLA region are observed for nodular sclerosis Hodgkin lymphoma (rs9269081, HLA-DPB1*03:01, Val86 in HLA-DRB1) and mixed cellularity Hodgkin lymphoma (rs1633096, rs13196329, Val86 in HLA-DRB1). The new and established risk loci localise to areas of active chromatin and show an over-representation of transcription factor binding for determinants of B-cell development and immune response. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 4 | 18% |
United States | 3 | 14% |
France | 2 | 9% |
Denmark | 1 | 5% |
Colombia | 1 | 5% |
Lebanon | 1 | 5% |
Unknown | 10 | 45% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 14 | 64% |
Scientists | 6 | 27% |
Science communicators (journalists, bloggers, editors) | 1 | 5% |
Practitioners (doctors, other healthcare professionals) | 1 | 5% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 113 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 18 | 16% |
Student > Ph. D. Student | 17 | 15% |
Student > Master | 9 | 8% |
Professor | 9 | 8% |
Student > Bachelor | 8 | 7% |
Other | 21 | 19% |
Unknown | 31 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 28 | 25% |
Biochemistry, Genetics and Molecular Biology | 18 | 16% |
Agricultural and Biological Sciences | 12 | 11% |
Computer Science | 3 | 3% |
Nursing and Health Professions | 2 | 2% |
Other | 11 | 10% |
Unknown | 39 | 35% |