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A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia

Allan, James M.; Jackson, Graham H.; Hall, Andrew G.; Smedby, Karin E.; Sunter, Nicola J.; Sava, Georgina P.; Speedy, Helen E.; Di Bernardo, Maria Chiara; Sava, Georgina P; Dyer, Martin J S; Holroyd, Amy; Wang, Yufei; Sunter, Nicola J; Mansouri, Larry; Juliusson, Gunnar; Smedby, Karin E; Roos, Göran; Jayne, Sandrine; Majid, Aneela; Dearden, Claire; Hall, Andrew G; Mainou-Fowler, Tryfonia; Jackson, Graham H; Summerfield, Geoffrey; Harris, Robert J.; Pettitt, Andrew R.; Allsup, David J.; Bailey, James R.; Pratt, Guy; Pepper, Chris; Fegan, Chris; Rosenquist, Richard; Catovsky, Daniel; Allan, James M; Houlston, Richard S


James M. Allan

Graham H. Jackson

Andrew G. Hall

Karin E. Smedby

Nicola J. Sunter

Georgina P. Sava

Helen E. Speedy

Maria Chiara Di Bernardo

Georgina P Sava

Martin J S Dyer

Amy Holroyd

Yufei Wang

Nicola J Sunter

Larry Mansouri

Gunnar Juliusson

Karin E Smedby

Göran Roos

Sandrine Jayne

Aneela Majid

Claire Dearden

Andrew G Hall

Tryfonia Mainou-Fowler

Graham H Jackson

Geoffrey Summerfield

Robert J. Harris

Andrew R. Pettitt

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Dr David Allsup
Senior Lecturer in Haematology and Honorary Consultant

James R. Bailey

Guy Pratt

Chris Pepper

Chris Fegan

Richard Rosenquist

Daniel Catovsky

James M Allan

Richard S Houlston


Genome-wide association studies (GWAS) of chronic lymphocytic leukemia (CLL) have shown that common genetic variation contributes to the heritable risk of CLL. To identify additional CLL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1,739 individuals with CLL (cases) and 5,199 controls with validation in an additional 1,144 cases and 3,151 controls. A combined analysis identified new susceptibility loci mapping to 3q26.2 (rs10936599, P = 1.74 × 10-9), 4q26 (rs6858698, P = 3.07 × 10-9), 6q25.2 (IPCEF1, rs2236256, P = 1.50 × 10-10) and 7q31.33 (POT1, rs17246404, P = 3.40 × 10-8). Additionally, we identified a promising association at 5p15.33 (CLPTM1L, rs31490, P = 1.72 × 10-7) and validated recently reported putative associations at 5p15.33 (TERT, rs10069690, P = 1.12 × 10-10) and 8q22.3 (rs2511714, P = 2.90 × 10-9). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to CLL. © 2014 Nature America, Inc.

Journal Article Type Article
Publication Date Jan 1, 2014
Journal Nature Genetics
Print ISSN 1061-4036
Electronic ISSN 1546-1718
Publisher Nature Publishing Group
Peer Reviewed Peer Reviewed
Volume 46
Issue 1
Pages 56-60
APA6 Citation Speedy, H. E., Di Bernardo, M. C., Sava, G. P., Dyer, M. J. S., Holroyd, A., Wang, Y., …Houlston, R. S. (2014). A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nature genetics, 46(1), 56-60. doi:10.1038/ng.2843
Keywords Genetics
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