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

Sud, A; Thomsen, H; Orlando, G; Försti, A; Law, PJ; Broderick, P; Cooke, R; ... Houlston, RS; + view all (2018) Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma. Blood , 132 (19) pp. 2040-2052. 10.1182/blood-2018-06-855296. Green open access

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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.

Type: Article
Title: Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1182/blood-2018-06-855296
Publisher version: https://doi.org/10.1182/blood-2018-06-855296
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health > Applied Health Research
URI: https://discovery.ucl.ac.uk/id/eprint/10058766
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