Table 1. The distribution of rs1049481 SNP genotypes in CALR mutation-positive and -negative MPN cases and controls.
| rs1049481 genotype | Control (n=163) | CALR-negative MPN (n=316) | CALR-positive MPN (n=70) | CALR mutation on T/G allele |
|---|---|---|---|---|
| GG | 17.2% (28) | 16.8% (53) | 15.7% (11) | |
| GT | 49.7% (81) | 47.8% (151) | 47.1% (33) | 23/10 |
| TT | 33.1% (54) | 35.4% (112) | 37.1% (26) | |
| Additional CALR-positive MPN cases with GT genotype (n=129) | 77/52 | |||
| Total (n=162) | 100/62 | |||
| CALR type 1 mutation (n=80) | 50/30 | |||
| CALR type 2 mutation (n=47) | 32/15 | |||
| Other CALR mutation types (n=35) | 18/17 | |||
Abbreviations: MPN, myeloproliferative neoplasm; SNP, single-nucleotide polymorphism.