Summary of genotyping results for the 46/1 tag SNP rs12340895 in the PT-1 cohort
| Category . | No. of cases . | No. of 46/1 alleles . | No. of non-46/1 alleles . | Frequency of 46/1 . | P (vs WTCCC controls) . | OR (95% CI) . |
|---|---|---|---|---|---|---|
| All PT-1 cases | 751 | 511 | 991 | 0.341 | 1.7e-9 | 1.52 (1.34-1.74) |
| JAK2 V617F positive | 404 | 302 | 506 | 0.374 | 3.9e-11 | 1.76 (1.49-2.07) |
| MPL exon 10 mutation positive* | 32 | 23 | 41 | 0.359 | .060 | 1.60 (0.99-2.75) |
| JAK2 V617F, MPL exon 10 negative | 318 | 189 | 447 | 0.300 | .025 | 1.24 (1.03-1.50) |
| WTCCC controls | 1492 | 757 | 2227 | 0.252 | — | — |
| Category . | No. of cases . | No. of 46/1 alleles . | No. of non-46/1 alleles . | Frequency of 46/1 . | P (vs WTCCC controls) . | OR (95% CI) . |
|---|---|---|---|---|---|---|
| All PT-1 cases | 751 | 511 | 991 | 0.341 | 1.7e-9 | 1.52 (1.34-1.74) |
| JAK2 V617F positive | 404 | 302 | 506 | 0.374 | 3.9e-11 | 1.76 (1.49-2.07) |
| MPL exon 10 mutation positive* | 32 | 23 | 41 | 0.359 | .060 | 1.60 (0.99-2.75) |
| JAK2 V617F, MPL exon 10 negative | 318 | 189 | 447 | 0.300 | .025 | 1.24 (1.03-1.50) |
| WTCCC controls | 1492 | 757 | 2227 | 0.252 | — | — |
WTCCC indicates Wellcome Trust Case Control Consortium; OR, odds ratio; CI, confidence interval; and —, not applicable.
Three MPL mutant cases also tested positive for V617F.