fig2

Figure 2. Genetic variants associated with ALL risk and outcomes across the genome. PhenoGram plots^[140] were constructed for genetic variants associated with (A) ALL susceptibility, and/or (B) ALL patient outcomes (i.e., relapse and response to therapy). Genetic variants included in the PhenoGrams were identified in the NHGRI-EBI catalog of human genome-wide association studies (GWAS Catalog)^[141] and included in published GWAS for acute lymphoblastic leukemia (ALL)^{[15,16,18-20,24-27,32,135,136]} or for outcomes of ALL^[142-150]. We also included some variants described in additional papers included in this review for ALL susceptibility^{[17,21-23,28-31]} and ALL patient outcomes^[21,139]. For ALL susceptibility (A) we only included variants that passed genome-wide significance levels of P < 5 × 10^-8. For patient outcomes (B), we included variants that passed genome-wide significance levels of P < 5 × 10^-8 plus variants in GATA3 and ARID5B from gene-specific analyses. Lines are plotted on each chromosome corresponding to the base-pair position of each single nucleotide polymorphism (SNP). Variants are colored by related phenotypes that have been detected in GWAS (from the “Reported trait” column in the GWAS Catalog). Shapes of variants correspond to the genetic ancestry (if any) that has been associated with the SNP risk allele. N/A represents no related ancestry has been reported so far.