Significant associations between individual SNPs and PV or ET using logistic regression with covariates of age at diagnosis and sex
| Gene and dbSNP by disorder . | Number* . | MAF, no.† . | Minor allele‡ . | P§ . | Odds ratio (95% CI) ‖ . | ||
|---|---|---|---|---|---|---|---|
| Noncases . | Cases . | Noncases . | Cases . | ||||
| PV, JAK2 | |||||||
| RS10758669 | 95 | 84 | 0.42 | 0.58 | C (0.31) | .002 | 2.707 (1.342-5.459) |
| RS3808850 | 95 | 84 | 0.22 | 0.13 | T (0.45) | .009 | 0.356 (0.176- 0.722) |
| RS7046736 | 93 | 77 | 0.61 | 0.36 | C (0.73) | <.001 | 0.156 (0.072- 0.332) |
| RS10815148 | 93 | 82 | 0.37 | 0.63 | A (0.27) | <.001 | 2.720 (1.344- 5.506) |
| RS12342421 | 91 | 79 | 0.37 | 0.59 | G (0.75) | <.001 | 2.459 (1.231- 4.911) |
| RS10974947 | 95 | 83 | 0.26 | 0.13 | A (0.14) | .005 | 0.339 (0.174-0.661) |
| EPOR, RS318699 | 95 | 84 | 0.27 | 0.43 | A (0.30) | .001 | 1.872 (1.011- 3.466) |
| ET, JAK2 | |||||||
| RS7046736 | 133 | 37 | 0.45 | 0.68 | C (0.73) | <.001 | 3.047 (1.094-8.484) |
| RS10815148 | 138 | 37 | 0.55 | 0.3 | A (0.27) | <.001 | 0.287 (0.128-0.638) |
| RS12342421 | 133 | 37 | 0.52 | 0.3 | G (0.75) | .001 | 0.300 (0.136-0.665) |
| Gene and dbSNP by disorder . | Number* . | MAF, no.† . | Minor allele‡ . | P§ . | Odds ratio (95% CI) ‖ . | ||
|---|---|---|---|---|---|---|---|
| Noncases . | Cases . | Noncases . | Cases . | ||||
| PV, JAK2 | |||||||
| RS10758669 | 95 | 84 | 0.42 | 0.58 | C (0.31) | .002 | 2.707 (1.342-5.459) |
| RS3808850 | 95 | 84 | 0.22 | 0.13 | T (0.45) | .009 | 0.356 (0.176- 0.722) |
| RS7046736 | 93 | 77 | 0.61 | 0.36 | C (0.73) | <.001 | 0.156 (0.072- 0.332) |
| RS10815148 | 93 | 82 | 0.37 | 0.63 | A (0.27) | <.001 | 2.720 (1.344- 5.506) |
| RS12342421 | 91 | 79 | 0.37 | 0.59 | G (0.75) | <.001 | 2.459 (1.231- 4.911) |
| RS10974947 | 95 | 83 | 0.26 | 0.13 | A (0.14) | .005 | 0.339 (0.174-0.661) |
| EPOR, RS318699 | 95 | 84 | 0.27 | 0.43 | A (0.30) | .001 | 1.872 (1.011- 3.466) |
| ET, JAK2 | |||||||
| RS7046736 | 133 | 37 | 0.45 | 0.68 | C (0.73) | <.001 | 3.047 (1.094-8.484) |
| RS10815148 | 138 | 37 | 0.55 | 0.3 | A (0.27) | <.001 | 0.287 (0.128-0.638) |
| RS12342421 | 133 | 37 | 0.52 | 0.3 | G (0.75) | .001 | 0.300 (0.136-0.665) |
PV indicates polycythemia vera; ET, essential thrombocythemia; SNP; single nucleotide polymorphism; N, sample size; MAF, minor allele frequency; JAK2, Janus kinase 2; EPOR, receptor for erythropoietin; and CI, confidence interval.
Number of persons with and without the disorder successfully genotyped for the particular SNP locus.
Minor allele frequencies of those with and without the disorder. Allele defined as “minor” based on frequency of the particular allele in the overall study population. Allele frequencies for HapMap CEU population are indicated separately (see ‡ footnote).
Frequency of the allele in the HapMap Project CEU population is in parentheses.
P values computed under an additive genetic model.
Odds ratios and confidence intervals computed under a dominant genetic model.