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Title: Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
Authors: Law, Philip J.
Berndt, Sonja I.
Speedy, Helen E.
Camp, Nicola J.
Sava, Georgina P.
Skibola, Christine F.
Holroyd, Amy
Joseph, Vijai
Sunter, Nicola J.
Nieters, Alexandra
Bea, Silvia
Monnereau, Alain
Martin-Garcia, David
Goldin, Lynn R.
Clot, Guillem
Teras, Lauren R.
Quintela, Inés
Birmann, Brenda M.
Jayne, Sandrine
Cozen, Wendy
Majid, Aneela
Smedby, Karin E.
Lan, Qing
Dearden, Claire
Brooks-Wilson, Angela R.
Hall, Andrew G.
Purdue, Mark P.
Mainou-Fowler, Tryfonia
Vajdic, Claire M.
Jackson, Graham H.
Cocco, Pierluigi
Marr, Helen
Zhang, Yawei
Zheng, Tongzhang
Giles, Graham G.
Lawrence, Charles
Call, Timothy G.
Liebow, Mark
Melbye, Mads
Glimelius, Bengt
Mansouri, Larry
Glenn, Martha
Curtin, Karen
Diver, W. Ryan
Link, Brian K.
Conde, Lucia
Bracci, Paige M.
Holly, Elizabeth A.
Jackson, Rebecca D.
Tinker, Lesley F.
Benavente, Yolanda
Boffetta, Paolo
Brennan, Paul
Maynadie, Marc
McKay, James
Albanes, Demetrius
Weinstein, Stephanie
Wang, Zhaoming
Caporaso, Neil E.
Morton, Lindsay M.
Severson, Richard K.
Riboli, Elio
Vineis, Paolo
Vermeulen, Roel C. H.
Southey, Melissa C.
Milne, Roger L.
Clavel, Jacqueline
Topka, Sabine
Spinelli, John J.
Kraft, Peter
Ennas, Maria Grazia
Summerfield, Geoffrey
Ferri, Giovanni M.
Harris, Robert J.
Miligi, Lucia
Pettitt, Andrew R.
North, Kari E.
Allsup, David J
Fraumeni, Joseph F.
Bailey, James R.
Offit, Kenneth
Pratt, Guy
Hjalgrim, Henrik
Pepper, Chris
Chanock, Stephen J.
Fegan, Chris
Rosenquist, Richard
de Sanjose, Silvia
Carracedo, Angel
Dyer, Martin J. S.
Catovsky, Daniel
Campo, Elias
Cerhan, James R.
Allan, James M.
Rothman, Nathanial
Houlston, Richard
Slager, Susan
First Published: 6-Feb-2017
Publisher: Nature Publishing Group
Citation: Nature Publishing Group, 2017, 8, 14175
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.
DOI Link: 10.1038/ncomms14175
eISSN: 2041-1723
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2017. This is an open-access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Description: Supplementary Information accompanies this paper at
Appears in Collections:Published Articles, Dept. of Cancer Studies and Molecular Medicine

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