Genome-wide statistically significant (Pmeta < 5 × 10−8) loci associated with ALL susceptibility in DS by genetic ancestry group and meta-analysis of 4 independent case-control studies
| SNP . | Chr . | Pos . | Gene . | European (386 DS-ALL cases, 994 DS controls) . | Hispanic (141 DS-ALL cases, 136 DS controls) . | African (15 DS-ALL cases, 62 DS controls) . | Meta-analysis (542 DS-ALL cases, 1192 DS controls) . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| OR (95% CI) . | P . | OR (95% CI) . | P . | OR (95% CI) . | P . | OR (95% CI) . | P . | ||||
| rs58923657 | 7 | 50472842 | IKZF1 | 2.20 (1.80-2.69) | 1.18e-14 | 1.28 (0.87-1.90) | .212 | 4.06 (1.73-9.52) | 3.51e-4 | 2.02 (1.70-2.41) | 5.32e-15 |
| rs3731249* | 9 | 21970916 | CDKN2A | 4.22 (2.72-6.54) | 1.20e-10 | 1.56 (0.56-4.39) | .397 | — | — | 3.63 (2.42-5.43) | 3.91e-10 |
| rs7090445 | 10 | 63721176 | ARID5B | 1.50 (1.24-1.80) | 1.92e-5 | 1.90 (1.35-2.67) | 2.43e-4 | 2.45 (1.01-5.99) | .036 | 1.60 (1.36-1.88) | 8.44e-9 |
| rs3781093 | 10 | 8101927 | GATA3 | 1.50 (1.19-1.89) | 5.88e-4 | 2.31 (1.64-3.25) | 1.52e-5 | 3.64 (1.48-8.98) | 9.25e-3 | 1.73 (1.43-2.10) | 2.89e-8 |
| SNP . | Chr . | Pos . | Gene . | European (386 DS-ALL cases, 994 DS controls) . | Hispanic (141 DS-ALL cases, 136 DS controls) . | African (15 DS-ALL cases, 62 DS controls) . | Meta-analysis (542 DS-ALL cases, 1192 DS controls) . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| OR (95% CI) . | P . | OR (95% CI) . | P . | OR (95% CI) . | P . | OR (95% CI) . | P . | ||||
| rs58923657 | 7 | 50472842 | IKZF1 | 2.20 (1.80-2.69) | 1.18e-14 | 1.28 (0.87-1.90) | .212 | 4.06 (1.73-9.52) | 3.51e-4 | 2.02 (1.70-2.41) | 5.32e-15 |
| rs3731249* | 9 | 21970916 | CDKN2A | 4.22 (2.72-6.54) | 1.20e-10 | 1.56 (0.56-4.39) | .397 | — | — | 3.63 (2.42-5.43) | 3.91e-10 |
| rs7090445 | 10 | 63721176 | ARID5B | 1.50 (1.24-1.80) | 1.92e-5 | 1.90 (1.35-2.67) | 2.43e-4 | 2.45 (1.01-5.99) | .036 | 1.60 (1.36-1.88) | 8.44e-9 |
| rs3781093 | 10 | 8101927 | GATA3 | 1.50 (1.19-1.89) | 5.88e-4 | 2.31 (1.64-3.25) | 1.52e-5 | 3.64 (1.48-8.98) | 9.25e-3 | 1.73 (1.43-2.10) | 2.89e-8 |
Chr, chromosome; Pos, base pair position (human genome assembly GRCh37 [hg 19]).
CDKN2A SNP rs3731249 was not assessed in Africans as the minor allele frequency was too low (MAF <0.01) in this population.