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

• Published in: Nature genetics Vol. 42; no. 6; pp. 492 - 494
• Main Authors: Gast, Andreas, Kinsey, Sally E, Roman, Eve, Schrappe, Martin, Koeffler, H Phillip, Hosking, Fay J, Stanulla, Martin, Sinnett, Daniel, Harrison, Christine J, Vijayakrishnan, Jayaram, Dobbins, Sara E, Houlston, Richard S, Zimmermann, Martin, Erdelyi, Daniel J, Bartram, Claus R, Richards, Sue, Neira, Anna Gonzalez, Ogawa, Seishi, Healy, Jasmine, Hemminki, Kari, Papaemmanuil, Elli, Kawamata, Norihiko, Semsei, Ágnes F, Irving, Julie A E, Sherborne, Amy L, Kumar, Rajiv, Ma, Yussanne, Moorman, Anthony V, Greaves, Mel, Lightfoot, Tracey, Koehler, Rolf, Prasad, Rashmi B, Taylor, Malcolm, Szalai, Csaba, Sheridan, Eamonn, Allan, James M, Tomlinson, Ian P, Krajinovic, Maja
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.06.2010; Nature Publishing Group
• Subjects: 631/208/726/649; 692/699/67/1990/283/2125; 692/699/67/69; Acute lymphocytic leukemia; Agriculture; Animal Genetics and Genomics; Bioinformatics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer Research; Case-Control Studies; Cell physiology; Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes; Children; Chromosomes, Human, Pair 9; Colorectal cancer; Data collection; Diagnosis; Fundamental and applied biological sciences. Psychology; Gene Function; Genes, p16; Genetic aspects; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Genotype & phenotype; Haplotypes; Health aspects; Hematologic and hematopoietic diseases; Hospitals; Human Genetics; Humans; Leukemia; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Medical research; Medical sciences; Molecular and cellular biology; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics; Project management; Risk factors; Sample preparation; Single nucleotide polymorphisms; Statistical analysis; Studies; United States; United Kingdom; Lymphoproliferative syndrome; Acute leukemia; Risk; Malignant hemopathy; Acute lymphocytic leukemia; Cancer; Tumor suppressor gene
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.585

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.