Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
Creators: name: Clavel, Jacqueline
name: Harris, Robert J.
name: Boffetta, Paolo
name: De Sanjose, Silvia
name: Clot, Guillem
name: Mansouri, Larry
name: Campo, Elias
name: Vineis, Paolo
name: Giles, Graham G.
name: Slager, Susan
name: Marr, Helen
name: Jackson, Rebecca D.
name: Teras, Lauren R.
name: Houlston, Richard
name: Bracci, Paige M.
name: Quintela, Inés
name: Conde, Lucia
name: Bailey, James R.
name: Weinstein, Stephanie
name: Glimelius, Bengt
name: Milne, Roger L.
name: Lawrence, Charles
name: Caporaso, Neil E.
name: Kraft, Peter
name: Holly, Elizabeth A.
name: Berndt, Sonja I.
name: Hjalgrim, Henrik
name: McKay, James
name: Rothman, Nathanial
name: Chanock, Stephen J.
name: Wang, Zhaoming
name: Skibola, Christine F.
name: Melbye, Mads
name: Jayne, Sandrine
name: Catovsky, Daniel
name: Pepper, Chris
name: Zhang, Yawei
name: Miligi, Lucia
name: Sava, Georgina P.
name: Monnereau, Alain
name: Martin-Garcia, David
name: Pratt, Guy
name: Summerfield, Geoffrey
name: Lan, Qing
name: Maynadie, Marc
name: Vajdic, Claire M.
name: Dyer, Martin J. S.
name: Goldin, Lynn R.
name: Allsup, David J.
name: Bea, Silvia
name: Majid, Aneela
name: Link, Brian K.
name: Camp, Nicola J.
name: Hall, Andrew G.
name: Nieters, Alexandra
name: Ferri, Giovanni M.
name: Law, Philip J.
name: Rosenquist, Richard
name: Fraumeni, Joseph F.
name: Jackson, Graham H.
name: Curtin, Karen
name: Allan, James M.
name: Offit, Kenneth
name: Cocco, Pierluigi
name: Southey, Melissa C.
name: Sunter, Nicola J.
name: Birmann, Brenda M.
name: Morton, Lindsay M.
name: Smedby, Karin E.
name: Topka, Sabine
name: Pettitt, Andrew R.
name: Benavente, Yolanda
name: Zheng, Tongzhang
name: Severson, Richard K.
name: Vermeulen, Roel C. H.
name: Cozen, Wendy
name: Holroyd, Amy
name: Riboli, Elio
name: Ennas, Maria Grazia
name: Albanes, Demetrius
name: Brooks-Wilson, Angela R.
name: Carracedo, Angel
name: Fegan, Chris
name: Glenn, Martha
name: Spinelli, John J.
name: Call, Timothy G.
name: Diver, W Ryan
name: Liebow, Mark
name: Purdue, Mark P.
name: North, Kari E.
name: Speedy, Helen E.
name: Joseph, Vijai
name: Brennan, Paul
name: Cerhan, James R.
name: Tinker, Lesley F.
name: Dearden, Claire
name: Mainou-Fowler, Tryfonia
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2017

description: 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.