Table 1 Association of the TERT variant rs2736100_C and the JAK2 variant rs1034072_A with MPN in Icelandic samples

From: The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms

Phenotype

 

TERT rs2736100_C

JAK2 rs1034072_A a

 

N

P-value

OR

P-value

OR

MPN (Ph-negative)

237

6.39 × 10−10

2.09

3.19 × 10−7

1.85

 Polycythemia vera

98

1.10 × 10−5

2.32

8.03 × 10−8

2.76

 Essential thrombocythemia

40

2.87 × 10−3

2.25

0.25

1.39

 Primary myelofibrosis

26

2.46 × 10−2

2.42

0.27

1.56

  1. Abbreviations: ET, essential thrombocythemia; JAK, janus kinase; MPN, myeloproliferative neoplasm; OR, odds ratio; PMF, primary myelofibrosis.
  2. Of the 237 MPN cases, 74 were diagnosed as MPN unclassifiable and 1 MPN case had two sub-phenotypes assigned. Risk allele frequency for TERT rs2736100 is 49.32%; risk allele frequency for JAK2 rs1034072 is 28.21%.
  3. ars1034072 is the strongest signal at the JAK2 locus in our data and it is highly correlated (r2=0.91) with the previously reported JAK2 germline variant rs10974944.
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