Is the JAK2 V617F mutation a hallmark for different forms of thrombosis?
OBJECTIVE
The association between venous thrombosis outside the splanchnic area as well arterial thromboembolism and the JAK2 V617F mutation, an important marker for chronic myeloproliferative neoplasms (MPN), is not completely clear.


METHODS
Four hundred forty-four patients with venous thrombosis of the lower/upper limbs and/or pulmonary embolism and 60 patients with ischemic stroke were screened for the JAK2 V617F mutation, factor V Leiden, and factor II G20210A.


RESULTS
The JAK2 V617F mutation was detected in 1.4% of patients with venous thrombosis and in 3.3% of patients with ischemic stroke. Because 6 out of 2,430 control individuals with no medical history of venous thrombosis, stroke, or MPN were positive for the JAK2 V617F mutation, a significant association was observed (OR 5.53, CI 1.77-17.2, p = 0.0053 for venous thrombosis; OR 13.9, CI 2.75-70.5, p = 0.0145 for stroke).


CONCLUSIONS
We provide evidence of the association between the JAK2 V617F mutation and different forms of thrombosis. This association is comparable with the association between inherited risk factors (factor V Leiden and factor II G20210A) and thrombotic events, but with a much lower prevalence of the mutation. Finally, the JAK2 V617F mutation is not absent from the general population despite being considered somatic and an acquired genetic variation.
Zerjavic
Katja
K
Laboratory of Medical Genetics, University Medical Center Maribor, Maribor, Slovenia. katja.zerjavic@ukc-mb.si
Zagradisnik
Boris
B
Stangler Herodez
Spela
S
Lokar
Lidija
L
Glaser Krasevac
Marjana
M
Kokalj Vokac
Nadja
N
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002648:Child; D005165:Factor V; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D011516:Prothrombin / Q000235:genetics; D011655:Pulmonary Embolism / Q000235:genetics; D020521:Stroke / Q000235:genetics; D013927:Thrombosis / Q000453:epidemiology / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics; D055815:Young Adult
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D053614:Janus Kinase 2