Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma-Reference-Cited by-同舟云学术

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

Published:2018-11-08 Issue:19 Volume:132 Page:2040-2052
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Sud Amit¹^ORCID,Thomsen Hauke²^ORCID,Orlando Giulia¹,Försti Asta²³,Law Philip J.¹^ORCID,Broderick Peter¹^ORCID,Cooke Rosie¹,Hariri Fadi⁴,Pastinen Tomi⁴^ORCID,Easton Douglas F.⁵⁶,Pharoah Paul D. P.⁵⁶^ORCID,Dunning Alison M.⁵^ORCID,Peto Julian⁷,Canzian Federico⁸^ORCID,Eeles Rosalind¹⁹^ORCID,Kote-Jarai ZSofia¹^ORCID,Muir Kenneth¹⁰¹¹,Pashayan Nora⁶¹²,Campa Daniele¹³^ORCID,Hoffmann Per¹⁴¹⁵¹⁶^ORCID,Nöthen Markus M.¹⁵¹⁶^ORCID,Jöckel Karl-Heinz¹⁷,von Strandmann Elke Pogge¹⁸,Swerdlow Anthony J.¹¹⁹^ORCID,Engert Andreas²⁰^ORCID,Orr Nick¹⁹^ORCID,Hemminki Kari²³^ORCID,Houlston Richard S.¹^ORCID,

Affiliation:

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

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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/132/19/2040/1746731/blood855296.pdf

Reference104 articles.

1. The 2016 revision of the World Health Organization classification of lymphoid neoplasms;Swerdlow;Blood,2016

2. Hodgkin and Reed-Sternberg cells in Hodgkin’s disease represent the outgrowth of a dominant tumor clone derived from (crippled) germinal center B cells;Kanzler;J Exp Med,1996

3. Origin and pathogenesis of nodular lymphocyte-predominant Hodgkin lymphoma as revealed by global gene expression analysis;Brune;J Exp Med,2008

4. The biology of Hodgkin’s lymphoma;Küppers;Nat Rev Cancer,2009

5. Defining characteristics of classical Hodgkin lymphoma microenvironment T-helper cells;Greaves;Blood,2013

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