SNPs previously associated with risk of IA in hematopoietic stem cell recipients
| Gene . | Reference . | Population . | Genome . | Group . | N* . | SNP . | Alleles† . | MAF . | Statistic . | 95% CI . |
|---|---|---|---|---|---|---|---|---|---|---|
| AGER | 7 | W | PT | HCT | 223 (41) | rs2070600 | T/A‡ | 0.07 | aHR, 2.0 | 1.0-4.1 |
| DNR | aHR 2.0 | 1.0-3.8 | ||||||||
| CLEC7A | 8 | W | DNR | HCT | 205 (39) | rs16910526 | G/T | 0.04§ | aHR, 2.5 | 1.0-6.5 |
| DNR + PT | aHR, 3.9 | 1.5-10.0 | ||||||||
| 9 | W | PT | HCT and HM | 182 (57) | rs7309123 | C/G | 0.28 | OR, 4.9 | 1.5-15.9 | |
| rs3901533 | G/T | 0.46 | OR, 5.6 | 1.4-22.8 | ||||||
| CD209 | 9 | W | PT | HCT and HM | 182 (57) | rs4804800 | A/G | 0.22 | OR, 2.8 | 1.3-6.0 |
| rs11465384 | C/T | 0.03 | OR, 2.7 | 1.2-5.9 | ||||||
| rs7248637 | A/G | 0.23 | OR, 2.4 | 1.1-5.2 | ||||||
| rs7252229 | G/C | 0.20 | OR, 2.1 | 1.0-4.2 | ||||||
| PTX3 | 10 | W | DNR | HCT | 330 (107) | rs2305619|| | A/G | 0.44§ | aHR, 2.9¶ | 1.7-5.0 |
| rs3816527 | A/C | 0.29§ | aHR, 2.6¶ | 1.5-4.5 | ||||||
| S100B | 7 | W | DNR | HCT | 223 (41) | rs9722 | C/T | 0.18 | aHR, 3.2 | 1.6-6.2 |
| IFNG | 11 | W | PT# | HCT | 139 (81) | rs2069705 | C/T | 0.48§ | NR | P = .01 |
| IFNG+ | 12 | W | DNR | HCT | 108 (44) | rs2430561 | T/A | 0.39 | OR, 6.1 | 1.1-35.5 |
| TLR4 | rs4986790** | A/G | 0.03 | |||||||
| TLR4 | 13 | W | DNR | HCT | 366 (103) | rs4986791†† | C/T | 0.04 | HR, 8.0‡‡ | 2.5-25.3 |
| W | HR, 2.1a | 1.0-4.5 | ||||||||
| TLR1 | 14 | W | PT | HCT | 127 (22) | rs5743611 | G/C | 0.08 | OR, 1.2 | 1.0-1.5 |
| TLR1+ | 14 | W | PT | HCT | 127 (22) | rs4833095 | A/G | 0.35 | OR, 1.2 | 1.0-1.5 |
| TLR6 | rs5743810 | C/T | 0.33 | |||||||
| TLR3 | 15 | W | DNR | HCT | 189 (42) | rs3775296 | C/A | 0.18§ | aHR, 2.4 | 1.3-4.6 |
| TLR5 | 16 | W | PT | HCT | 171 (41) | rs5744168 | C/T | 0.05 | OR, 3.3 | 1.2-9.0 |
| CXCL10 | 11 | W | PT | HCT | 139 (81) | rs1554013 | C/T | 0.30§ | OR, 2.2 | 1.2-3.8 |
| rs3921 | C/G | 0.31§ | OR, 2.6 | 1.4-5.0 | ||||||
| rs4257674 | A/G | 0.31§ | OR, 2.8 | 1.6-5.2 | ||||||
| PLG | 17 | W | PT | HCT | 220 (83) | rs4252125 | G/A | 0.25 | aHR, 5.6 | 1.9-16.5 |
| aHR, 3.0 | 1.5-6.1 | |||||||||
| TNFR1 | 18 | W | PT | HCT and HM | 144 (77) | rs4149570 | G/T | 0.31§ | OR, 0.3 | P = .018 |
| rs767455 | A/G | 0.30§ | OR, 2.2 | P = .033 |
| Gene . | Reference . | Population . | Genome . | Group . | N* . | SNP . | Alleles† . | MAF . | Statistic . | 95% CI . |
|---|---|---|---|---|---|---|---|---|---|---|
| AGER | 7 | W | PT | HCT | 223 (41) | rs2070600 | T/A‡ | 0.07 | aHR, 2.0 | 1.0-4.1 |
| DNR | aHR 2.0 | 1.0-3.8 | ||||||||
| CLEC7A | 8 | W | DNR | HCT | 205 (39) | rs16910526 | G/T | 0.04§ | aHR, 2.5 | 1.0-6.5 |
| DNR + PT | aHR, 3.9 | 1.5-10.0 | ||||||||
| 9 | W | PT | HCT and HM | 182 (57) | rs7309123 | C/G | 0.28 | OR, 4.9 | 1.5-15.9 | |
| rs3901533 | G/T | 0.46 | OR, 5.6 | 1.4-22.8 | ||||||
| CD209 | 9 | W | PT | HCT and HM | 182 (57) | rs4804800 | A/G | 0.22 | OR, 2.8 | 1.3-6.0 |
| rs11465384 | C/T | 0.03 | OR, 2.7 | 1.2-5.9 | ||||||
| rs7248637 | A/G | 0.23 | OR, 2.4 | 1.1-5.2 | ||||||
| rs7252229 | G/C | 0.20 | OR, 2.1 | 1.0-4.2 | ||||||
| PTX3 | 10 | W | DNR | HCT | 330 (107) | rs2305619|| | A/G | 0.44§ | aHR, 2.9¶ | 1.7-5.0 |
| rs3816527 | A/C | 0.29§ | aHR, 2.6¶ | 1.5-4.5 | ||||||
| S100B | 7 | W | DNR | HCT | 223 (41) | rs9722 | C/T | 0.18 | aHR, 3.2 | 1.6-6.2 |
| IFNG | 11 | W | PT# | HCT | 139 (81) | rs2069705 | C/T | 0.48§ | NR | P = .01 |
| IFNG+ | 12 | W | DNR | HCT | 108 (44) | rs2430561 | T/A | 0.39 | OR, 6.1 | 1.1-35.5 |
| TLR4 | rs4986790** | A/G | 0.03 | |||||||
| TLR4 | 13 | W | DNR | HCT | 366 (103) | rs4986791†† | C/T | 0.04 | HR, 8.0‡‡ | 2.5-25.3 |
| W | HR, 2.1a | 1.0-4.5 | ||||||||
| TLR1 | 14 | W | PT | HCT | 127 (22) | rs5743611 | G/C | 0.08 | OR, 1.2 | 1.0-1.5 |
| TLR1+ | 14 | W | PT | HCT | 127 (22) | rs4833095 | A/G | 0.35 | OR, 1.2 | 1.0-1.5 |
| TLR6 | rs5743810 | C/T | 0.33 | |||||||
| TLR3 | 15 | W | DNR | HCT | 189 (42) | rs3775296 | C/A | 0.18§ | aHR, 2.4 | 1.3-4.6 |
| TLR5 | 16 | W | PT | HCT | 171 (41) | rs5744168 | C/T | 0.05 | OR, 3.3 | 1.2-9.0 |
| CXCL10 | 11 | W | PT | HCT | 139 (81) | rs1554013 | C/T | 0.30§ | OR, 2.2 | 1.2-3.8 |
| rs3921 | C/G | 0.31§ | OR, 2.6 | 1.4-5.0 | ||||||
| rs4257674 | A/G | 0.31§ | OR, 2.8 | 1.6-5.2 | ||||||
| PLG | 17 | W | PT | HCT | 220 (83) | rs4252125 | G/A | 0.25 | aHR, 5.6 | 1.9-16.5 |
| aHR, 3.0 | 1.5-6.1 | |||||||||
| TNFR1 | 18 | W | PT | HCT and HM | 144 (77) | rs4149570 | G/T | 0.31§ | OR, 0.3 | P = .018 |
| rs767455 | A/G | 0.30§ | OR, 2.2 | P = .033 |
aHR, adjusted hazard ratio; CI, confidence interval; DNR, donor; HCT, hematopoietic cell transplantation; HM, hematologic malignancy; NR, not reported; OR, odds ratio; PT, patient; W, white.
Total patients (no. of IA cases). Note: We did not include haplotype studies (Seo 2005, Sainz 2008).
Major/minor.
Alleles are designated as reported by Cunha et al.7 In the National Center for Biotechnology Information Single Nucleotide Polymorphism Database, the alleles are A/G, and in our data set, the corresponding alleles are T/C.
1000 genomes.
rs1840680 in strong linkage disequilibrium.
From discovery study. Confirmation study: 2.1 (1.2-3.8) and 1.9 (0.9-3.0).
Patients with 100% donor chimerism.
In strong linkage disequilibrium with rs4986791.
From supplemental Table S3 in Bochud 2008,13 rs4986791 is in strong linkage disequilibrium with rs4986790.
Discovery study.
Validation study.