Table 2

Summary of SNP associations

OutcomeSNPGene/location*ModelOverall PGenotype or mismatch† groupNumber of eventsHR (95% CI)P
Survival rs429916 1.2 kb centromeric of HLA-DOA Patient genotype 7.48 × 10−5 CC 1254/1909 1  
     AC 201/296 1.11 (0.94-1.31) .23 
     AA 18/19 3.47 (1.95-6.16) 2.27 × 10−5 
Disease-free survival‡ rs429916 1.2 kb centromeric of HLA-DOA Patient genotype 4.28 × 10−5 CC 1147/1708 1  
     AC 188/268 1.06 (0.88-1.26) .56 
     AA 18/19 3.75 (2.10-6.68) 7.86 × 10−6 
Relapse‡ rs2244546 2.2 kb telomeric of HCP5 Donor genotype 6.92 × 10−4 CC 373/1611 1  
     CG 117/435 1.19 (0.95-1.50) .14 
     GG 16/30 2.79 (1.60-4.85) 2.87 × 10−4 
 rs986522 COL11A2, intron Donor genotype 3.20 × 10−5 CG 209/1025 1  
     CC 136/478 1.46 (1.16-1.85) 1.45 × 10−3 
     GG 161/573 1.62 (1.30-2.03) 2.14 × 10−5 
Transplant-related mortality rs915654 1.4 kb telomeric of LTA Patient genotype 9.93 × 10−5 AT 394/964 1  
     AA 142/300 1.45 (1.16-1.80) 1.16 × 10−3 
     TT 332/718 1.39 (1.17-1.64) 1.43 × 10−4 
 rs429916 1.2 kb centromeric of HLA-DOA Patient genotype 2.82 × 10−5 CC 720/1696 1  
     AC 134/267 1.20 (0.97-1.49) 9.67 × 10−2 
     AA 14/19 4.52 (2.31-8.86) 1.11 × 10−5 
Grades II-IV acute GVHD§ rs2242656 BAG6, intron Mismatch 3.13 × 10−4 Matched 865/1535 1  
     HVG 122/214 1.00 (0.82-1.22) 1 
     GVH 136/203 1.46 (1.21-1.77) 6.92 × 10−5 
Grades III-IV acute GVHD rs209130 3 kb telomeric of TRIM27 Mismatch 6.42 × 10−5 Matched 251/920 1  
     HVG 154/488 1.22 (0.99-1.50) 6.11 × 10−2 
     GVH 124/420 1.19 (0.96-1.49) .12 
     Bi 45/103 2.17 (1.56-3.01) 3.70 × 10−6 
 rs2075800 HSPA1L, Glu602Lys Patient genotype 8.37 × 10−4 GG 289/848 1  
     AG 214/819 0.72 (0.60-0.86) 4.01 × 10−4 
     AA 71/264 0.73 (0.56-0.95) 2.07 × 10−2 
 rs394657 NOTCH4, intron Donor 4.15 × 10−4 AA 150/626 1  
   genotype  AG 301/923 1.48 (1.21-1.81) 1.16 × 10−4 
     GG 123/382 1.43 (1.11-1.82) 4.75 × 10−3 
Chronic GVHD rs2523957 26.6 kb centromeric of HLA-A Mismatch 7.27 × 10−5 Matched 637/1474 1  
     HVG 69/159 1.21 (0.92-1.59) .18 
     GVH 79/154 1.75 (1.36-2.26) 1.73 × 10−5 
 rs3830076 240 bp telomeric of FKBPL Mismatch 1.24 × 10−4 Matched 674/1499 1  
     HVG 59/152 0.68 (0.50-0.92) 1.22 × 10−2 
     GVH 52/136 0.56 (0.41-0.77) 3.07 × 10−4 
 rs2071479 HLA-DOB, intron Mismatch 2.27 × 10−4 Matched 724/1648 l  
     HVG 24/75 0.84 (0.53-1.31) .43 
     GVH 37/64 2.16 (1.48-3.16) 7.02 × 10−5 
 rs107822 711 bp telomeric of RING1 Mismatch 3.98 × 10−4 Matched 378/911 1  
     HVG 183/391 1.35 (1.11-1.63) 2.17 × 10−3 
     GVH 176/400 1.15 (0.95-1.39) .16 
     Bi 48/85 1.81 (1.30-2.52) 4.95 × 10−4 
OutcomeSNPGene/location*ModelOverall PGenotype or mismatch† groupNumber of eventsHR (95% CI)P
Survival rs429916 1.2 kb centromeric of HLA-DOA Patient genotype 7.48 × 10−5 CC 1254/1909 1  
     AC 201/296 1.11 (0.94-1.31) .23 
     AA 18/19 3.47 (1.95-6.16) 2.27 × 10−5 
Disease-free survival‡ rs429916 1.2 kb centromeric of HLA-DOA Patient genotype 4.28 × 10−5 CC 1147/1708 1  
     AC 188/268 1.06 (0.88-1.26) .56 
     AA 18/19 3.75 (2.10-6.68) 7.86 × 10−6 
Relapse‡ rs2244546 2.2 kb telomeric of HCP5 Donor genotype 6.92 × 10−4 CC 373/1611 1  
     CG 117/435 1.19 (0.95-1.50) .14 
     GG 16/30 2.79 (1.60-4.85) 2.87 × 10−4 
 rs986522 COL11A2, intron Donor genotype 3.20 × 10−5 CG 209/1025 1  
     CC 136/478 1.46 (1.16-1.85) 1.45 × 10−3 
     GG 161/573 1.62 (1.30-2.03) 2.14 × 10−5 
Transplant-related mortality rs915654 1.4 kb telomeric of LTA Patient genotype 9.93 × 10−5 AT 394/964 1  
     AA 142/300 1.45 (1.16-1.80) 1.16 × 10−3 
     TT 332/718 1.39 (1.17-1.64) 1.43 × 10−4 
 rs429916 1.2 kb centromeric of HLA-DOA Patient genotype 2.82 × 10−5 CC 720/1696 1  
     AC 134/267 1.20 (0.97-1.49) 9.67 × 10−2 
     AA 14/19 4.52 (2.31-8.86) 1.11 × 10−5 
Grades II-IV acute GVHD§ rs2242656 BAG6, intron Mismatch 3.13 × 10−4 Matched 865/1535 1  
     HVG 122/214 1.00 (0.82-1.22) 1 
     GVH 136/203 1.46 (1.21-1.77) 6.92 × 10−5 
Grades III-IV acute GVHD rs209130 3 kb telomeric of TRIM27 Mismatch 6.42 × 10−5 Matched 251/920 1  
     HVG 154/488 1.22 (0.99-1.50) 6.11 × 10−2 
     GVH 124/420 1.19 (0.96-1.49) .12 
     Bi 45/103 2.17 (1.56-3.01) 3.70 × 10−6 
 rs2075800 HSPA1L, Glu602Lys Patient genotype 8.37 × 10−4 GG 289/848 1  
     AG 214/819 0.72 (0.60-0.86) 4.01 × 10−4 
     AA 71/264 0.73 (0.56-0.95) 2.07 × 10−2 
 rs394657 NOTCH4, intron Donor 4.15 × 10−4 AA 150/626 1  
   genotype  AG 301/923 1.48 (1.21-1.81) 1.16 × 10−4 
     GG 123/382 1.43 (1.11-1.82) 4.75 × 10−3 
Chronic GVHD rs2523957 26.6 kb centromeric of HLA-A Mismatch 7.27 × 10−5 Matched 637/1474 1  
     HVG 69/159 1.21 (0.92-1.59) .18 
     GVH 79/154 1.75 (1.36-2.26) 1.73 × 10−5 
 rs3830076 240 bp telomeric of FKBPL Mismatch 1.24 × 10−4 Matched 674/1499 1  
     HVG 59/152 0.68 (0.50-0.92) 1.22 × 10−2 
     GVH 52/136 0.56 (0.41-0.77) 3.07 × 10−4 
 rs2071479 HLA-DOB, intron Mismatch 2.27 × 10−4 Matched 724/1648 l  
     HVG 24/75 0.84 (0.53-1.31) .43 
     GVH 37/64 2.16 (1.48-3.16) 7.02 × 10−5 
 rs107822 711 bp telomeric of RING1 Mismatch 3.98 × 10−4 Matched 378/911 1  
     HVG 183/391 1.35 (1.11-1.63) 2.17 × 10−3 
     GVH 176/400 1.15 (0.95-1.39) .16 
     Bi 48/85 1.81 (1.30-2.52) 4.95 × 10−4 

The table summarizes the 12 SNPs that met a P < .001 in multivariate models that adjusted for SNPs other than the one of interest.

Bi, bidirectional; GVH, graft-versus-host; HVG, host-versus-graft.

*

Location of SNP according to the National Center for Biotechnology Information dbSNP database.19 

†

Bidirectional mismatches for SNPs rs2523957 (9 pairs), rs2242656 (10 pairs), rs3830076 (3 pairs), and rs2071479 (2 pairs) were excluded from analysis. Favorable SNP genotypes and favorable SNP (mis)matches are in bold.

‡

Risks of relapse and disease-free survival were defined for patients with malignancies.

§

The effect of the SNP for grades II-IV acute GVHD was significant among HLA-C antigen mismatches (P = .005) and remained significant after adjusting for patient KIR ligands and patient-donor KIR ligand mismatching.

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