A Variant at 9P21.3 Functionally Implicates CDKN2B in Paediatric B-Cell Precursor Acute Lymphoblastic Leukaemia Aetiology
UCSF UC San Francisco Previously Published Works Title A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Permalink https://escholarship.org/uc/item/3bz9m1pp Journal Nature communications, 7(1) ISSN 2041-1723 Authors Hungate, Eric A Vora, Sapana R Gamazon, Eric R et al. Publication Date 2016-02-12 DOI 10.1038/ncomms10635 Peer reviewed eScholarship.org Powered by the California Digital Library University of California ARTICLE Received 23 Apr 2015 | Accepted 7 Jan 2016 | Published 12 Feb 2016 DOI: 10.1038/ncomms10635 OPEN A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology Eric A. Hungate1,*, Sapana R. Vora2,*, Eric R. Gamazon3,4, Takaya Moriyama5, Timothy Best2, Imge Hulur6, Younghee Lee3, Tiffany-Jane Evans7, Eva Ellinghaus8, Martin Stanulla9,Je´remie Rudant10,11, Laurent Orsi10,11, Jacqueline Clavel10,11,12, Elizabeth Milne13, Rodney J. Scott7,14, Ching-Hon Pui15, Nancy J. Cox3, Mignon L. Loh16, Jun J. Yang5, Andrew D. Skol1 & Kenan Onel1 Paediatric B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) is the most common cancer of childhood, yet little is known about BCP-ALL predisposition. In this study, in 2,187 cases of European ancestry and 5,543 controls, we discover and replicate a locus indexed by À 15 rs77728904 at 9p21.3 associated with BCP-ALL susceptibility (Pcombined ¼ 3.32 Â 10 , OR ¼ 1.72) and independent from rs3731217, the previously reported ALL-associated variant in this region. Of correlated SNPs tagged by this locus, only rs662463 is significant in African Americans, suggesting it is a plausible causative variant.
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