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Blood. 2018 Nov 8;132(19):2040-2052. doi: 10.1182/blood-2018-06-855296. Epub 2018 Sep 7.

Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.

Author information

1
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
2
Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
3
Center for Primary Health Care Research, Lund University, Malmö, Sweden.
4
Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, McGill University, Montreal, QC, Canada.
5
Centre for Cancer Genetic Epidemiology, Department of Oncology, and.
6
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
7
Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, United Kingdom.
8
Genomic Epidemiology Group, German Cancer Research Center, Heidelberg, Germany.
9
Royal Marsden NHS Foundation Trust, London, United Kingdom.
10
Institute of Population Health, University of Manchester, Manchester, United Kingdom.
11
Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, United Kingdom.
12
Department of Applied Health Research, University College London, London, United Kingdom.
13
Department of Biology, University of Pisa, Pisa, Italy.
14
Human Genomic Research Group, Department of Biomedicine, University of Basel, Basel, Switzerland.
15
Institute of Human Genetics and.
16
Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
17
University of Duisburg-Essen, Essen, Germany.
18
Experimental Tumor Research, Center for Tumor Biology and Immunology, Clinic for Hematology, Oncology and Immunology, Philipps University, Marburg, Germany.
19
Division of Breast Cancer Research, The Institute of Cancer Research, London, United Kingdom; and.
20
Department of Internal Medicine, University Hospital of Cologne, Cologne, Germany.

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.

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