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Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

Author

Listed:
  • Philip J. Law

    (The Institute of Cancer Research)

  • Sonja I. Berndt

    (National Cancer Institute)

  • Helen E. Speedy

    (The Institute of Cancer Research)

  • Nicola J. Camp

    (Huntsman Cancer Institute, University of Utah School of Medicine)

  • Georgina P. Sava

    (The Institute of Cancer Research)

  • Christine F. Skibola

    (School of Public Health and Comprehensive Cancer Center, University of Alabama at Birmingham)

  • Amy Holroyd

    (The Institute of Cancer Research)

  • Vijai Joseph

    (Memorial Sloan Kettering Cancer Center)

  • Nicola J. Sunter

    (Northern Institute for Cancer Research, Newcastle University)

  • Alexandra Nieters

    (Center for Chronic Immunodeficiency, University Medical Center Freiburg)

  • Silvia Bea

    (Institut d’Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Hospital Clínic)

  • Alain Monnereau

    (Registre des hémopathies malignes de la Gironde, Institut Bergonié, Inserm U1219 EPICENE
    Epidemiology of Childhood and Adolescent Cancers Group, Inserm, Center of Research in Epidemiology and Statistics Sorbonne Paris Cité
    Université Paris Descartes)

  • David Martin-Garcia

    (Institut d’Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Hospital Clínic)

  • Lynn R. Goldin

    (National Cancer Institute)

  • Guillem Clot

    (Institut d’Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Hospital Clínic)

  • Lauren R. Teras

    (Epidemiology Research Program, American Cancer Society)

  • Inés Quintela

    (Grupo de Medicina Xenomica, Universidade de Santiago de Compostela, Centro Nacional de Genotipado (CeGen-PRB2-ISCIII), CIBERER)

  • Brenda M. Birmann

    (Brigham and Women’s Hospital and Harvard Medical School)

  • Sandrine Jayne

    (Ernest and Helen Scott Haematological Research Institute, University of Leicester)

  • Wendy Cozen

    (USC Keck School of Medicine, University of Southern California
    Norris Comprehensive Cancer Center, USC Keck School of Medicine, University of Southern California)

  • Aneela Majid

    (Ernest and Helen Scott Haematological Research Institute, University of Leicester)

  • Karin E. Smedby

    (Unit of Clinical Epidemiology, Karolinska Institutet, Hematology Center, Karolinsak University Hospital)

  • Qing Lan

    (National Cancer Institute)

  • Claire Dearden

    (The Royal Marsden NHS Foundation Trust)

  • Angela R. Brooks-Wilson

    (Genome Sciences Centre, BC Cancer Agency
    Simon Fraser University)

  • Andrew G. Hall

    (Northern Institute for Cancer Research, Newcastle University)

  • Mark P. Purdue

    (National Cancer Institute)

  • Tryfonia Mainou-Fowler

    (Haematological Sciences, Medical School, Newcastle University)

  • Claire M. Vajdic

    (Centre for Big Data Research in Health, University of New South Wales)

  • Graham H. Jackson

    (Royal Victoria Infirmary)

  • Pierluigi Cocco

    (Clinical and Molecular Medicine, University of Cagliari)

  • Helen Marr

    (Northern Institute for Cancer Research, Newcastle University)

  • Yawei Zhang

    (Yale School of Public Health)

  • Tongzhang Zheng

    (Yale School of Public Health)

  • Graham G. Giles

    (Cancer Epidemiology Centre, Cancer Council Victoria
    Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne)

  • Charles Lawrence

    (Westat)

  • Timothy G. Call

    (Mayo Clinic)

  • Mark Liebow

    (Mayo Clinic)

  • Mads Melbye

    (Statens Serum Institut
    Stanford University School of Medicine)

  • Bengt Glimelius

    (Genetics and Pathology, Science for Life Laboratory, Uppsala University)

  • Larry Mansouri

    (Genetics and Pathology, Science for Life Laboratory, Uppsala University)

  • Martha Glenn

    (Huntsman Cancer Institute, University of Utah School of Medicine)

  • Karen Curtin

    (Huntsman Cancer Institute, University of Utah School of Medicine)

  • W Ryan Diver

    (Epidemiology Research Program, American Cancer Society)

  • Brian K. Link

    (Carver College of Medicine, The University of Iowa)

  • Lucia Conde

    (School of Public Health and Comprehensive Cancer Center, University of Alabama at Birmingham)

  • Paige M. Bracci

    (University of California San Francisco)

  • Elizabeth A. Holly

    (University of California San Francisco)

  • Rebecca D. Jackson

    (Diabetes and Metabolism, Ohio State University)

  • Lesley F. Tinker

    (Fred Hutchinson Cancer Research Center)

  • Yolanda Benavente

    (Cancer Epidemiology Research Programme, Catalan Institute of Oncology-IDIBELL, L’Hospitalet de Llobregat
    CIBER de Epidemiología y Salud Pública (CIBERESP))

  • Paolo Boffetta

    (The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai)

  • Paul Brennan

    (International Agency for Research on Cancer)

  • Marc Maynadie

    (Registre des Hémopathies Malignes de Côte d’Or, University of Burgundy and Dijon University Hospital)

  • James McKay

    (International Agency for Research on Cancer)

  • Demetrius Albanes

    (National Cancer Institute)

  • Stephanie Weinstein

    (National Cancer Institute)

  • Zhaoming Wang

    (St Jude Children’s Research Hospital)

  • Neil E. Caporaso

    (National Cancer Institute)

  • Lindsay M. Morton

    (National Cancer Institute)

  • Richard K. Severson

    (Wayne State University)

  • Elio Riboli

    (School of Public Health, Imperial College London)

  • Paolo Vineis

    (MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London
    Human Genetics Foundation)

  • Roel C. H. Vermeulen

    (Institute for Risk Assessment Sciences, Utrecht University
    Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht)

  • Melissa C. Southey

    (Genetic Epidemiology Laboratory, University of Melbourne)

  • Roger L. Milne

    (Cancer Epidemiology Centre, Cancer Council Victoria
    Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne)

  • Jacqueline Clavel

    (Epidemiology of Childhood and Adolescent Cancers Group, Inserm, Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS)
    Université Paris Descartes)

  • Sabine Topka

    (Memorial Sloan Kettering Cancer Center)

  • John J. Spinelli

    (Cancer Control Research, BC Cancer Agency
    School of Population and Public Health, University of British Columbia)

  • Peter Kraft

    (Harvard T.H. Chan School of Public Health
    Harvard T. H. Chan School of Public Health)

  • Maria Grazia Ennas

    (University of Cagliari)

  • Geoffrey Summerfield

    (Queen Elizabeth Hospital)

  • Giovanni M. Ferri

    (University of Bari)

  • Robert J. Harris

    (University of Liverpool)

  • Lucia Miligi

    (Environmental and Occupational Epidemiology Unit, Cancer Prevention and Research Institute (ISPO))

  • Andrew R. Pettitt

    (University of Liverpool)

  • Kari E. North

    (University of North Carolina at Chapel Hill
    Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill)

  • David J. Allsup

    (Queens Centre for Haematology and Oncology, Castle Hill Hospital, Hull and East Yorkshire NHS Trust)

  • Joseph F. Fraumeni

    (National Cancer Institute)

  • James R. Bailey

    (Queens Centre for Haematology and Oncology, Castle Hill Hospital, Hull and East Yorkshire NHS Trust)

  • Kenneth Offit

    (Memorial Sloan Kettering Cancer Center)

  • Guy Pratt

    (Birmingham Heartlands Hospital)

  • Henrik Hjalgrim

    (Statens Serum Institut)

  • Chris Pepper

    (School of Medicine, Cardiff University)

  • Stephen J. Chanock

    (National Cancer Institute)

  • Chris Fegan

    (Cardiff and Vale National Health Service Trust, Heath Park)

  • Richard Rosenquist

    (Genetics and Pathology, Science for Life Laboratory, Uppsala University)

  • Silvia de Sanjose

    (The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai
    International Agency for Research on Cancer)

  • Angel Carracedo

    (Grupo de Medicina Xenomica, Universidade de Santiago de Compostela, Centro Nacional de Genotipado (CeGen-PRB2-ISCIII), CIBERER
    Center of Excellence in Genomic Medicine Research, King Abdulaziz University)

  • Martin J. S. Dyer

    (Ernest and Helen Scott Haematological Research Institute, University of Leicester)

  • Daniel Catovsky

    (The Institute of Cancer Research)

  • Elias Campo

    (Institut d’Investigacions Biomèdiques August Pi iSunyer (IDIBAPS), Hospital Clínic
    Unitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona)

  • James R. Cerhan

    (Mayo Clinic)

  • James M. Allan

    (Northern Institute for Cancer Research, Newcastle University)

  • Nathanial Rothman

    (National Cancer Institute)

  • Richard Houlston

    (The Institute of Cancer Research)

  • Susan Slager

    (Mayo Clinic)

Abstract

Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P=5.04 × 10−13), 1q42.13 (rs41271473, P=1.06 × 10−10), 4q24 (rs71597109, P=1.37 × 10−10), 4q35.1 (rs57214277, P=3.69 × 10−8), 6p21.31 (rs3800461, P=1.97 × 10−8), 11q23.2 (rs61904987, P=2.64 × 10−11), 18q21.1 (rs1036935, P=3.27 × 10−8), 19p13.3 (rs7254272, P=4.67 × 10−8) and 22q13.33 (rs140522, P=2.70 × 10−9). These new and established risk loci map to areas of active chromatin and show an over-representation of transcription factor binding for the key determinants of B-cell development and immune response.

Suggested Citation

  • Philip J. Law & Sonja I. Berndt & Helen E. Speedy & Nicola J. Camp & Georgina P. Sava & Christine F. Skibola & Amy Holroyd & Vijai Joseph & Nicola J. Sunter & Alexandra Nieters & Silvia Bea & Alain Mo, 2017. "Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia," Nature Communications, Nature, vol. 8(1), pages 1-12, April.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms14175
    DOI: 10.1038/ncomms14175
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    Cited by:

    1. Tomoko Nakanishi & Julian Willett & Yossi Farjoun & Richard J. Allen & Beatriz Guillen-Guio & Darin Adra & Sirui Zhou & J. Brent Richards, 2023. "Alternative splicing in lung influences COVID-19 severity and respiratory diseases," Nature Communications, Nature, vol. 14(1), pages 1-12, December.

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