Article
The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A.
Scientific reports - 14 Oct 2015
Vijayakrishnan Jayaram, Henrion Marc, Moorman Anthony V, Fiege Bettina, Kumar Rajiv, da Silva Filho Miguel Inacio, Holroyd Amy, Koehler Rolf, Thomsen Hauke, Irving Julie A, Allan James M, Lightfoot Tracy, Roman Eve, Kinsey Sally E, Sheridan Eamonn, Thompson Pamela D, Hoffmann Per, Nöthen Markus M, Mühleisen Thomas W, Eisele Lewin, Bartram Claus R, Schrappe Martin, Greaves Mel, Hemminki Kari, Harrison Christine J, Stanulla Martin, Houlston Richard S
Abstract excerpt
Genome-wide association studies (GWAS) have provided strong evidence for inherited predisposition to childhood acute lymphoblastic leukaemia (ALL) identifying a number of risk loci. We have previously shown common SNPs at 9p21.3 influence ALL risk. These SNP associations are generally not themselves candidates for causality, but simply act as markers for functional variants. By means of imputation of GWAS data...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.