- Hungate, Eric A;
- Vora, Sapana R;
- Gamazon, Eric R;
- Moriyama, Takaya;
- Best, Timothy;
- Hulur, Imge;
- Lee, Younghee;
- Evans, Tiffany-Jane;
- Ellinghaus, Eva;
- Stanulla, Martin;
- Rudant, Jéremie;
- Orsi, Laurent;
- Clavel, Jacqueline;
- Milne, Elizabeth;
- Scott, Rodney J;
- Pui, Ching-Hon;
- Cox, Nancy J;
- Loh, Mignon L;
- Yang, Jun J;
- Skol, Andrew D;
- Onel, Kenan
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 rs77728904 at 9p21.3 associated with BCP-ALL susceptibility (Pcombined=3.32 × 10(-15), OR=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. Functional analysis shows that rs662463 is a cis-eQTL for CDKN2B, with the risk allele associated with lower expression, and suggests that rs662463 influences BCP-ALL risk by regulating CDKN2B expression through CEBPB signalling. Functional analysis of rs3731217 suggests it is associated with BCP-ALL by acting within a splicing regulatory element determining CDKN2A exon 3 usage (P=0.01). These findings provide new insights into the critical role of the CDKN2 locus in BCP-ALL aetiology.