Significant results of SNP genotyping on all recipient samples
| Gene . | Marker . | Discovery cohort (genotype and association) . | Confirmatory cohort (genotype and association) . |
|---|---|---|---|
| CTLA4 | rs231775 | AA cGVHD (P = .046, OR = 1.83, CI = 1.02-3.28) | NS |
| CTLA4 | rs231777 | Mismatch aGVHD (P = .004, OR = 1.91, CI = 1.24-2.96) | NS |
| CTLA4 | haplotype | CAA cGVHD (P = .011, OR = 1.5, CI = 1.11-2.03) | NS |
| CGG cGVHD* (P = .0013,* OR = 0.62, CI = 0.47-0.83) | NS | ||
| CGG aGVHD2-4 (P = .019, OR = 0.70, CI = 0.52-0.94) | NS | ||
| TAG aGVHD4* (P = .0071, OR = 3.71,* CI = 1.56-8.86) | NS | ||
| FAS | rs1800682 | CC relapse (P = .017, OR = 1.68, CI = 1.03-2.74) | NS |
| CT relapse* (P = .0025, OR = 0.50,* CI = 0.33-0.78) | NS | ||
| CT aGVHD (P = .009, OR = 1.79, CI = 1.15-2.77) | NS | ||
| TT cGVHD (P = .024, OR = 1.75, CI = 1.03-2.82) | NS | ||
| TT ext cGVHD (P = .014. OR = 1.74, CI = 1.03-2.94) | NS | ||
| HLA-E | rs1264457 | Mismatch survival (P = .023) risk | NT |
| IL1A | rs1800578 | Mismatch aGVHD2-4 (P = .026, OR = 1.69, CI = 1.11-2.56) | NT |
| IL1B | rs16944 | AA aGVHD (P = .048, OR = 0.63, CI = 0.39-0.99) | NT |
| GG aGVHD (P = .032, OR = 1.75, CI = 1.08-2.82) | NT | ||
| IL15RA | rs2228059 | AC survival (P = .024) risk | NT |
| IL2 | rs2069762 | GG aGVHD4* (P = .0014,* OR = 4.51,* CI = 1.91-10.6) | NS |
| GT survival (P = .0021) protective | NS | ||
| TT survival (P = .0061) risk | NS | ||
| NOD2 | rs17313265 | CC aGVHD2-4 (P = .036, OR = 2.15, CI = 1.06-4.37) | NS |
| TGFB1 | rs1800469 | Mismatch aGVHD2-4 (P = .02, OR = 1.63, CI = 1.1-6.4) | NT |
| TGFB1 | rs2241715 | Mismatch aGVHD2-4 (P = .015, OR = 1.61, CI = 1.09-2.39) | NT |
| Mismatch cGVHD (P = .035, OR = 1.58, CI = 1.04-2.41) | NT | ||
| TGFB1 | rs2241716 | AA ext cGVHD* (P = .0041, OR = 2.58,* CI = 1.36-4.87) | NS |
| TNF | rs1799964 | Mismatch aGVHD4*† (P = .022, OR = 2.53,*† CI = 1.16-5.53) | Mismatch aGVHD4*† (P = .0053, OR = 3.40,*† CI = 1.48-7.81) |
| CC aGVHD4* (P = .041, OR = 4.92,* CI = 1.27-19.02) | CC aGVHD4 trend (P = .06) | ||
| TNF | rs1799724 | CC survival (P = .02) protective, | NT |
| CT survival (P = .02) risk | NT | ||
| TNFRSF1B | rs1061622 | TT aGVHD4* (P = .023, OR = 4.69,* CI = 1.1-20.11) | NS |
| Gene . | Marker . | Discovery cohort (genotype and association) . | Confirmatory cohort (genotype and association) . |
|---|---|---|---|
| CTLA4 | rs231775 | AA cGVHD (P = .046, OR = 1.83, CI = 1.02-3.28) | NS |
| CTLA4 | rs231777 | Mismatch aGVHD (P = .004, OR = 1.91, CI = 1.24-2.96) | NS |
| CTLA4 | haplotype | CAA cGVHD (P = .011, OR = 1.5, CI = 1.11-2.03) | NS |
| CGG cGVHD* (P = .0013,* OR = 0.62, CI = 0.47-0.83) | NS | ||
| CGG aGVHD2-4 (P = .019, OR = 0.70, CI = 0.52-0.94) | NS | ||
| TAG aGVHD4* (P = .0071, OR = 3.71,* CI = 1.56-8.86) | NS | ||
| FAS | rs1800682 | CC relapse (P = .017, OR = 1.68, CI = 1.03-2.74) | NS |
| CT relapse* (P = .0025, OR = 0.50,* CI = 0.33-0.78) | NS | ||
| CT aGVHD (P = .009, OR = 1.79, CI = 1.15-2.77) | NS | ||
| TT cGVHD (P = .024, OR = 1.75, CI = 1.03-2.82) | NS | ||
| TT ext cGVHD (P = .014. OR = 1.74, CI = 1.03-2.94) | NS | ||
| HLA-E | rs1264457 | Mismatch survival (P = .023) risk | NT |
| IL1A | rs1800578 | Mismatch aGVHD2-4 (P = .026, OR = 1.69, CI = 1.11-2.56) | NT |
| IL1B | rs16944 | AA aGVHD (P = .048, OR = 0.63, CI = 0.39-0.99) | NT |
| GG aGVHD (P = .032, OR = 1.75, CI = 1.08-2.82) | NT | ||
| IL15RA | rs2228059 | AC survival (P = .024) risk | NT |
| IL2 | rs2069762 | GG aGVHD4* (P = .0014,* OR = 4.51,* CI = 1.91-10.6) | NS |
| GT survival (P = .0021) protective | NS | ||
| TT survival (P = .0061) risk | NS | ||
| NOD2 | rs17313265 | CC aGVHD2-4 (P = .036, OR = 2.15, CI = 1.06-4.37) | NS |
| TGFB1 | rs1800469 | Mismatch aGVHD2-4 (P = .02, OR = 1.63, CI = 1.1-6.4) | NT |
| TGFB1 | rs2241715 | Mismatch aGVHD2-4 (P = .015, OR = 1.61, CI = 1.09-2.39) | NT |
| Mismatch cGVHD (P = .035, OR = 1.58, CI = 1.04-2.41) | NT | ||
| TGFB1 | rs2241716 | AA ext cGVHD* (P = .0041, OR = 2.58,* CI = 1.36-4.87) | NS |
| TNF | rs1799964 | Mismatch aGVHD4*† (P = .022, OR = 2.53,*† CI = 1.16-5.53) | Mismatch aGVHD4*† (P = .0053, OR = 3.40,*† CI = 1.48-7.81) |
| CC aGVHD4* (P = .041, OR = 4.92,* CI = 1.27-19.02) | CC aGVHD4 trend (P = .06) | ||
| TNF | rs1799724 | CC survival (P = .02) protective, | NT |
| CT survival (P = .02) risk | NT | ||
| TNFRSF1B | rs1061622 | TT aGVHD4* (P = .023, OR = 4.69,* CI = 1.1-20.11) | NS |
The marker rs3087243 was not associated individually with chronic GVHD (cGVHD) or acute GVHD (aGVHD) and is not listed here, but it was included in the confirmatory cohort forming part of the CTLA4 haplotype.
NS indicates not significant; and NT, not tested. For other abbreviations please see Table 2.
Withstanding Bonferroni multiple testing corrections or have OR ≤ 0.5 or ≥ 2.
Consistent associations.