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

Authors: Helen E HE. Speedy, Maria Chiara MC. Di Bernardo, Georgina P GP. Sava, Martin J S MJ. Dyer, Amy A. Holroyd, Yufei Y. Wang, Nicola J NJ. Sunter, Larry L. Mansouri, Gunnar G. Juliusson, Karin E KE. Smedby, Göran G. Roos, Sandrine S. Jayne, Aneela A. Majid, Claire C. Dearden, Andrew G AG. Hall, Tryfonia T. Mainou-Fowler, Graham H GH. Jackson, Geoffrey G. Summerfield, Robert J RJ. Harris, Andrew R AR. Pettitt, David J DJ. Allsup, James R JR. Bailey, Guy G. Pratt, Chris C. Pepper, Chris C. Fegan, Richard R. Rosenquist, Daniel D. Catovsky, James M JM. Allan, Richard S RS. Houlston
Published: 12/01/2013, Nature genetics


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.

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