Genome-wide significant associations with B-ALL by age (<20, 20-40, >40 y) in EAs
| Variant information . | Overall (age-adjusted) by subtype . | <20 y* . | 20-40 y* . | >40 y* . | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP†/nearest gene . | Chr:base pair position . | Alleles (EAF) . | Cases . | C1/C2 . | ORmeta (95% CI)/ Pmeta . | C1/C2 . | ORmeta (95% CI)/ Pmeta . | C1/C2 . | ORmeta (95% CI)/ Pmeta . | C1/C2 . | ORmeta (95% CI)/ Pmeta . | ||||
| OR (95% CI) . | P . | OR (95% CI) . | P . | OR (95% CI) . | P . | OR (95% CI) . | P . | ||||||||
| rs3824662/GATA3 | 10:8104207 | A/C (0.20) | B-ALL | 1.9 (1.5, 2.3)/ 1.9 (1.2, 2.6) | 6.7 × 10−11/ .001 | 1.9 (1.3, 2.7)/ 3.3 × 10−13 | 1.9 (1.3, 2.6)/ 1.4 (0.4, 2.5) | .0002/.33 | 1.9 (1.0, 3.1)/ .0002 | 1.8 (1.2, 2.4)/ 2.4 (0.9, 3.8) | .0003/ .007 | 1.9 (1.1, 3.3)/ 6.4 × 10−6 | 2.2 (1.5, 3.0)/ 1.9 (0.7, 3.2) | 1.8 × 10−6/ .03 | 2.2 (1.1, 4.0)/ 2.4 × 10−7 |
| rs11980379/IKZF1 | 7:50469980 | C/T (0.30) | B-ALL | 1.6 (1.3, 1.9)/ 1.4 (1.0, 1.9) | 4.4 × 10−7/ .04 | 1.5 (1.2, 2.0)/ 6.9 × 10−8 | 2.4 (1.6, 3.1)/ 2.3 (1.7, 2.9) | 3.6 × 10−8/ .007 | 2.3 (1.5, 3.7)/ 1.0 × 10−9 | 1.5 (1.1, 1.9)/ 1.3 (0.6, 2.0) | .006/.4 | 1.4 (1.0, 2.1)/ .005 | 1.3 (0.9, 1.6)/ 1.1 (0.5, 1.7) | .1/.7 | 1.2 (0.9, 1.7)/ .1 |
| rs189434316/CPSF2‡ | 14:92697912 | A/T (0.07) | Normal Cytogenetic B-ALL | 3.6 (3.1, 4.1)/ 5.4 (4.3, 6.4) | 1.0 × 10−6/ .003 | 3.7 (2.5, 6.2)/ 6.0 × 10−9 | — | — | — | — | — | — | — | — | — |
| Variant information . | Overall (age-adjusted) by subtype . | <20 y* . | 20-40 y* . | >40 y* . | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP†/nearest gene . | Chr:base pair position . | Alleles (EAF) . | Cases . | C1/C2 . | ORmeta (95% CI)/ Pmeta . | C1/C2 . | ORmeta (95% CI)/ Pmeta . | C1/C2 . | ORmeta (95% CI)/ Pmeta . | C1/C2 . | ORmeta (95% CI)/ Pmeta . | ||||
| OR (95% CI) . | P . | OR (95% CI) . | P . | OR (95% CI) . | P . | OR (95% CI) . | P . | ||||||||
| rs3824662/GATA3 | 10:8104207 | A/C (0.20) | B-ALL | 1.9 (1.5, 2.3)/ 1.9 (1.2, 2.6) | 6.7 × 10−11/ .001 | 1.9 (1.3, 2.7)/ 3.3 × 10−13 | 1.9 (1.3, 2.6)/ 1.4 (0.4, 2.5) | .0002/.33 | 1.9 (1.0, 3.1)/ .0002 | 1.8 (1.2, 2.4)/ 2.4 (0.9, 3.8) | .0003/ .007 | 1.9 (1.1, 3.3)/ 6.4 × 10−6 | 2.2 (1.5, 3.0)/ 1.9 (0.7, 3.2) | 1.8 × 10−6/ .03 | 2.2 (1.1, 4.0)/ 2.4 × 10−7 |
| rs11980379/IKZF1 | 7:50469980 | C/T (0.30) | B-ALL | 1.6 (1.3, 1.9)/ 1.4 (1.0, 1.9) | 4.4 × 10−7/ .04 | 1.5 (1.2, 2.0)/ 6.9 × 10−8 | 2.4 (1.6, 3.1)/ 2.3 (1.7, 2.9) | 3.6 × 10−8/ .007 | 2.3 (1.5, 3.7)/ 1.0 × 10−9 | 1.5 (1.1, 1.9)/ 1.3 (0.6, 2.0) | .006/.4 | 1.4 (1.0, 2.1)/ .005 | 1.3 (0.9, 1.6)/ 1.1 (0.5, 1.7) | .1/.7 | 1.2 (0.9, 1.7)/ .1 |
| rs189434316/CPSF2‡ | 14:92697912 | A/T (0.07) | Normal Cytogenetic B-ALL | 3.6 (3.1, 4.1)/ 5.4 (4.3, 6.4) | 1.0 × 10−6/ .003 | 3.7 (2.5, 6.2)/ 6.0 × 10−9 | — | — | — | — | — | — | — | — | — |
P genome-wide significance <5.0 × 10−8 meta. Number of cases: B-ALL overall: overall (C1 = 364/C2 = 82) <20 y (C1 = 113/C2 = 21); 20-40 y (C1 = 130/C2 = 30); >40 y (C1 = 121/C2 = 31).
C1, cohort 1; C2, cohort 2; Chr, chromosome; EAF, effect allele frequency (the effect allele is bolded); OR, odds ratio of logistic additive model; ORmeta, odds ratio for fixed-effects model meta-analysis of DISCOVeRY-BMT cohorts 1 and 2; Pmeta, P value for fixed-effects model meta-analysis of DISCOVeRY-BMT cohorts 1 and 2.
Age-specific ORs and CIs are not reported due to low EAF of rs189434316.
Both variants in GATA3 and IKZF1 are typed, rs189434316 is imputed (info score = 0.87 and certainty = .95).
Nearest gene.