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Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk

2010; Nature Portfolio; Volume: 42; Issue: 2 Linguagem: Inglês

10.1038/ng.510

1546-1718

Dalemari Crowther-Swanepoel, Peter Broderick, Maria Chiara Di Bernardo, Sara E. Dobbins, María Torres, Mahmoud Mansouri, Clara Ruiz‐Ponte, Anna Enjuanes, Richard Rosenquist, Ángel Carracedo, Jesper Jurlander, Elı́as Campo, Gunnar Juliusson, Emilio Montserrat, Karin E. Smedby, Martin J.S. Dyer, Estella Matutes, Claire Dearden, Nicola J. Sunter, Emma A. Hall, Tryfonia Mainou‐Fowler, Graham Jackson, Geoffrey Summerfield, R. J. C. Harris, Andrew R. Pettitt, David Allsup, James R Bailey, Guy Pratt, Chris Pepper, Chris Fegan, Anton Parker, David Oscier, James M. Allan, Daniel Catovsky, Richard S. Houlston,

Immunodeficiency and Autoimmune Disorders

Richard Houlston and colleagues identify common variants at four loci associated with risk of chronic lymphocytic leukemia, including a coding variant in FARP2 on 2q37.3 and a noncoding variant in the region upstream of MYC on 8q24.21. To identify new risk variants for chronic lymphocytic leukemia (CLL), we conducted a genome-wide association study of 299,983 tagging SNPs, with validation in four additional series totaling 2,503 cases and 5,789 controls. We identified four new risk loci for CLL at 2q37.3 (rs757978, FARP2; odds ratio (OR) = 1.39; P = 2.11 × 10−9), 8q24.21 (rs2456449; OR = 1.26; P = 7.84 × 10−10), 15q21.3 (rs7169431; OR = 1.36; P = 4.74 × 10−7) and 16q24.1 (rs305061; OR = 1.22; P = 3.60 × 10−7). We also found evidence for risk loci at 15q25.2 (rs783540, CPEB1; OR = 1.18; P = 3.67 × 10−6) and 18q21.1 (rs1036935; OR = 1.22; P = 2.28 × 10−6). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy.