KIR gene presence, KIR haplotype motif-based models, and models based on KIR/KIR-ligand interactions
| Classifier . | No. of patients with pos AML (No. of total patients with AML) . | Portion of patients with pos AML . | No. of pos control subjects (No. of total control subjects) . | Portion of pos control group . | P . | Adjusted P . |
|---|---|---|---|---|---|---|
| KIRgene presence | ||||||
| KIR2DL1 | 1 640 (1 689) | 0.971 | 50 195 (51 885) | 0.967 | .458 | 1.000 |
| KIR2DL2 | 896 (1 689) | 0.530 | 26 802 (51 888) | 0.517 | .269 | 1.000 |
| KIR2DL3 | 1 511 (1 689) | 0.894 | 46 956 (51 888) | 0.905 | .167 | 1.000 |
| KIR2DL5 | 832 (1 689) | 0.493 | 25 353 (51 890) | 0.489 | .765 | 1.000 |
| KIR2DP1 | 1 643 (1 689) | 0.973 | 50 344 (51 887) | 0.970 | .600 | 1.000 |
| KIR2DS1 | 635 (1 689) | 0.376 | 19 927 (51 890) | 0.384 | .519 | 1.000 |
| KIR2DS2 | 898 (1 689) | 0.532 | 27 053 (51 888) | 0.521 | .418 | 1.000 |
| KIR2DS3 | 495 (1 689) | 0.293 | 14 928 (51 890) | 0.288 | .650 | 1.000 |
| KIR2DS4 | 1 617 (1 677) | 0.964 | 49 347 (51 890) | 0.951 | .015 | .180 |
| KIR2DS5 | 483 (1 689) | 0.286 | 15 013 (51 890) | 0.289 | .785 | 1.000 |
| KIR3DL1 | 1 617 (1 689) | 0.957 | 49 354 (51 887) | 0.951 | .268 | 1.000 |
| KIR3DS1 | 630 (1 689) | 0.373 | 19 535 (51 888) | 0.376 | .786 | 1.000 |
| Cen A/B haplotypes, overall χ2testP = .332 | ||||||
| Cen A/A | 789 (1 689) | 0.467 | 24 780 (51 888) | 0.478 | .412 | 1.000 |
| Cen A/B | 722 (1 689) | 0.427 | 22 176 (51 888) | 0.427 | 1.000 | 1.000 |
| Cen B/B | 178 (1 689) | 0.105 | 4 932 (51 888) | 0.095 | .167 | .502 |
| Tel A/B haplotypes, overall χ2testP = .487 | ||||||
| Tel A/A | 1 019 (1 689) | 0.603 | 31 071 (51 889) | 0.599 | .728 | 1.000 |
| Tel A/B | 598 (1 689) | 0.354 | 18 275 (51 889) | 0.352 | .895 | 1.000 |
| Tel B/B | 72 (1 689) | 0.043 | 2 543 (51 889) | 0.049 | .254 | .763 |
| B content score, overall χ2testP = .993 | ||||||
| B content 0 | 535 (1 689) | 0.317 | 16 659 (51 890) | 0.321 | .730 | 1.000 |
| B content 1 | 638 (1 689) | 0.378 | 19 528 (51 890) | 0.376 | .927 | 1.000 |
| B content 2 | 382 (1 689) | 0.226 | 11 715 (51 890) | 0.226 | .992 | 1.000 |
| B content 3 | 118 (1 689) | 0.070 | 3 509 (51 890) | 0.068 | .775 | 1.000 |
| B content 4 | 16 (1 689) | 0.009 | 479 (51 890) | 0.009 | 1.000 | 1.000 |
| KIR3DL1/HLA-B subtype combinations, overall χ2testP = .402 | ||||||
| Strong inhibiting KIR3DL1 | 382 (1 469) | 0.260 | 11 928 (46 375) | 0.257 | .830 | 1.000 |
| Weak inhibiting KIR3DL1 | 406 (1 469) | 0.276 | 12 133 (46 375) | 0.262 | .217 | .867 |
| Educated, uninhibited KIR3DL1 | 118 (1 469) | 0.080 | 4 172 (46 375) | 0.090 | .220 | .880 |
| Missing ligand KIR3DL1 | 563 (1 469) | 0.383 | 18 142 (46 375) | 0.391 | .557 | 1.000 |
| KIR2DS1/C1C2 epitope combinations, overall χ2testP = .186 | ||||||
| KIR2DS1 neg | 1 054 (1 666) | 0.633 | 31 963 (50 619) | 0.631 | .940 | 1.000 |
| KIR2DS1 pos, C1+ | 521 (1 666) | 0.313 | 16 346 (50 619) | 0.323 | .396 | 1.000 |
| KIR2DS1 pos, C2/C2 | 91 (1 666) | 0.055 | 2 310 (50 619) | 0.046 | .096 | .288 |
| Classifier . | No. of patients with pos AML (No. of total patients with AML) . | Portion of patients with pos AML . | No. of pos control subjects (No. of total control subjects) . | Portion of pos control group . | P . | Adjusted P . |
|---|---|---|---|---|---|---|
| KIRgene presence | ||||||
| KIR2DL1 | 1 640 (1 689) | 0.971 | 50 195 (51 885) | 0.967 | .458 | 1.000 |
| KIR2DL2 | 896 (1 689) | 0.530 | 26 802 (51 888) | 0.517 | .269 | 1.000 |
| KIR2DL3 | 1 511 (1 689) | 0.894 | 46 956 (51 888) | 0.905 | .167 | 1.000 |
| KIR2DL5 | 832 (1 689) | 0.493 | 25 353 (51 890) | 0.489 | .765 | 1.000 |
| KIR2DP1 | 1 643 (1 689) | 0.973 | 50 344 (51 887) | 0.970 | .600 | 1.000 |
| KIR2DS1 | 635 (1 689) | 0.376 | 19 927 (51 890) | 0.384 | .519 | 1.000 |
| KIR2DS2 | 898 (1 689) | 0.532 | 27 053 (51 888) | 0.521 | .418 | 1.000 |
| KIR2DS3 | 495 (1 689) | 0.293 | 14 928 (51 890) | 0.288 | .650 | 1.000 |
| KIR2DS4 | 1 617 (1 677) | 0.964 | 49 347 (51 890) | 0.951 | .015 | .180 |
| KIR2DS5 | 483 (1 689) | 0.286 | 15 013 (51 890) | 0.289 | .785 | 1.000 |
| KIR3DL1 | 1 617 (1 689) | 0.957 | 49 354 (51 887) | 0.951 | .268 | 1.000 |
| KIR3DS1 | 630 (1 689) | 0.373 | 19 535 (51 888) | 0.376 | .786 | 1.000 |
| Cen A/B haplotypes, overall χ2testP = .332 | ||||||
| Cen A/A | 789 (1 689) | 0.467 | 24 780 (51 888) | 0.478 | .412 | 1.000 |
| Cen A/B | 722 (1 689) | 0.427 | 22 176 (51 888) | 0.427 | 1.000 | 1.000 |
| Cen B/B | 178 (1 689) | 0.105 | 4 932 (51 888) | 0.095 | .167 | .502 |
| Tel A/B haplotypes, overall χ2testP = .487 | ||||||
| Tel A/A | 1 019 (1 689) | 0.603 | 31 071 (51 889) | 0.599 | .728 | 1.000 |
| Tel A/B | 598 (1 689) | 0.354 | 18 275 (51 889) | 0.352 | .895 | 1.000 |
| Tel B/B | 72 (1 689) | 0.043 | 2 543 (51 889) | 0.049 | .254 | .763 |
| B content score, overall χ2testP = .993 | ||||||
| B content 0 | 535 (1 689) | 0.317 | 16 659 (51 890) | 0.321 | .730 | 1.000 |
| B content 1 | 638 (1 689) | 0.378 | 19 528 (51 890) | 0.376 | .927 | 1.000 |
| B content 2 | 382 (1 689) | 0.226 | 11 715 (51 890) | 0.226 | .992 | 1.000 |
| B content 3 | 118 (1 689) | 0.070 | 3 509 (51 890) | 0.068 | .775 | 1.000 |
| B content 4 | 16 (1 689) | 0.009 | 479 (51 890) | 0.009 | 1.000 | 1.000 |
| KIR3DL1/HLA-B subtype combinations, overall χ2testP = .402 | ||||||
| Strong inhibiting KIR3DL1 | 382 (1 469) | 0.260 | 11 928 (46 375) | 0.257 | .830 | 1.000 |
| Weak inhibiting KIR3DL1 | 406 (1 469) | 0.276 | 12 133 (46 375) | 0.262 | .217 | .867 |
| Educated, uninhibited KIR3DL1 | 118 (1 469) | 0.080 | 4 172 (46 375) | 0.090 | .220 | .880 |
| Missing ligand KIR3DL1 | 563 (1 469) | 0.383 | 18 142 (46 375) | 0.391 | .557 | 1.000 |
| KIR2DS1/C1C2 epitope combinations, overall χ2testP = .186 | ||||||
| KIR2DS1 neg | 1 054 (1 666) | 0.633 | 31 963 (50 619) | 0.631 | .940 | 1.000 |
| KIR2DS1 pos, C1+ | 521 (1 666) | 0.313 | 16 346 (50 619) | 0.323 | .396 | 1.000 |
| KIR2DS1 pos, C2/C2 | 91 (1 666) | 0.055 | 2 310 (50 619) | 0.046 | .096 | .288 |
The framework genes KIR3DL3, 3DP1, 2DL4, and 3DL2 are present in all genomes of the patients with AML and in >99.94% of the healthy individuals, and therefore, not compiled in this table. KIR2DS4 is counted ‘present’ when either the full-length or the truncated variant of the allele or both are present at gene level. Numbers of cases evaluated for each test vary because of remaining ambiguities and are reported in parentheses.
Cen, centromeric; neg, negative; pos, positive; Tel, telomeric.