NDLI: The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A

Content Provider	PubMed Central
Author	Vijayakrishnan, Jayaram Henrion, Marc Moorman, Anthony V. Fiege, Bettina Kumar, Rajiv Filho, Miguel Inacio Da Silva 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. Martin, Schrappe Greaves, Mel Kari, Hemminki Harrison, Christine J. Martin, Stanulla Houlston, Richard S.
Copyright Year	2015
Abstract	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 and subsequent validation SNP genotyping totalling 2,177 ALL cases and 8,240 controls, we have shown that the 9p21.3 association can be ascribed to the rare high-impact CDKN2A p.Ala148Thr variant (rs3731249; Odds ratio = 2.42, P = 3.45 × 10−19). The association between rs3731249 genotype and risk was not specific to particular subtype of B-cell ALL. The rs3731249 variant is associated with predominant nuclear localisation of the CDKN2A transcript suggesting the functional effect of p.Ala148Thr on ALL risk may be through compromised ability to inhibit cyclin D within the cytoplasm.
Related Links	http://dx.doi.org/10.1038/srep15065
Starting Page	15065
File Format	PDF
ISSN	20452322
e-ISSN	20452322
Journal	Scientific Reports
Volume Number	5
Language	English
Publisher	Nature Publishing Group
Publisher Date	2015-10-01
Access Restriction	Open
Rights Holder	Nature Publishing Group
Subject Keyword	Science and technology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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