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


Authors: Law, P. J.; Berndt, S. I.; Speedy, H. E.; Camp, N. J.; Sava, G. P.; Skibola, C. F.; Holroyd, A.; Joseph, V.; Sunter, N. J.; Nieters, A.; Bea, S.; Monnereau, A.; Martin-Garcia, D.; Goldin, L. R.; Clot, G.; Teras, L. R.; Quintela, I.; Birmann, B. M.; Jayne, S.; Cozen, W.; Majid, A.; Smedby, K. E.; Lan, Q.; Dearden, C.; Brooks-Wilson, A. R.; Hall, A. G.; Purdue, M. P.; Mainou-Fowler, T.; Vajdic, C. M.; Jackson, G. H.; Cocco, P.; Marr, H.; Zhang, Y.; Zheng, T.; Giles, G. G.; Lawrence, C.; Call, T. G.; Liebow, M.; Melbye, M.; Glimelius, B.; Mansouri, L.; Glenn, M.; Curtin, K.; Diver, W. R.; Link, B. K.; Conde, L.; Bracci, P. M.; Holly, E. A.; Jackson, R. D.; Tinker, L. F.; Benavente, Y.; Boffetta, P.; Brennan, P.; Maynadie, M.; McKay, J.; Albanes, D.; Weinstein, S.; Wang, Z.; Caporaso, N. E.; Morton, L. M.; Severson, R. K.; Riboli, E.; Vineis, P.; Vermeulen, R. C. H.; Southey, M. C.; Milne, R. L.; Clavel, J.; Topka, S.; Spinelli, J. J.; Kraft, P.; Ennas, M. G.; Summerfield, G.; Ferri, G. M.; Harris, R. J.; Miligi, L.; Pettitt, A. R.; North, K. E.; Allsup, D. J.; Fraumeni, J. F., Jr.; Bailey, J. R.; Offit, K.; Pratt, G.; Hjalgrim, H.; Pepper, C.; Chanock, S. J.; Fegan, C.; Rosenquist, R.; De Sanjose, S.; Carracedo, A.; Dyer, M. J. S.; Catovsky, D.; Campo, E.; Cerhan, J. R.; Allan, J. M.; Rothman, N.; Houlston, R.; Slager, S.
Article Title: Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
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.
Journal Title: Nature Communications
Volume: 8
ISSN: 2041-1723
Publisher: Nature Publishing Group  
Date Published: 2017-02-06
Start Page: 14175
Language: English
DOI: 10.1038/ncomms14175
PROVIDER: scopus
PMCID: PMC5303820
PUBMED: 28165464
DOI/URL:
Notes: Article -- Export Date: 2 March 2017 -- Source: Scopus
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  1. Kenneth Offit
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  2. Vijai Joseph
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  3. Sabine   Topka
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