Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

Abstract
Richard Houlston and colleagues report a new risk locus for childhood acute lymphoblastic leukemia. The associated variant is located in the CDKN2A gene at chromosome 9p21. Using data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation in samples totaling 2,386 cases and 2,419 controls, we have shown that common variation at 9p21.3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 × 10−11), irrespective of cell lineage.