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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
Nature genetics, 01/2014, Letnik: 46, Številka: 1Journal Article
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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in: SICRIS
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