<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>The most important complications of Philadelphianegagive (non <italic>BCR</italic>-<italic>ABL</italic>) myeloproliferative neoplasms (MPNs) are vascular events. Our aim was to evaluate the effects of single nucleotide polymorphisms (SNPs), platelet glycoproteins (GPs) (Ia/IIa, Ibα, IIb/IIIa and VI), von Willebrand factor (vWF), coagulation factor VII (FVII), β-fibrinogen, and the risk of thrombosis in patients with non <italic>BCR</italic>-<italic>ABL</italic> MPNs at the Lithuanian University of Health Sciences. Kaunas, Lithuania. Genotyping was done for 108 patients. The TT genotype of the <italic>GP</italic> Ia/IIa c.807C>T polymorphism was more frequently found in the group of MPN patients with arterial thrombosis compared to MPN patients who were thrombosis-free [26.5 <italic>vs</italic>. 11.5%, <italic>p</italic> = 0.049; odds ratio (OR) 2.68; 95% confidence interval (95% CI) 1.01-7.38]. The CT genotype of the β-fibrinogen c.-148C>T polymorphism occurred more frequently in MPN patients with arterial, and total thrombosis compared to the wild or homozygous genotype (57.7 <italic>vs</italic>. 40.0 <italic>vs</italic>. 12.5%; <italic>p</italic> = 0.027), (64.7 <italic>vs</italic>. 44.4 <italic>vs</italic>. 25%; <italic>p</italic> = 0.032), respectively. The carrier state for the c.-323P10 variant of <italic>FVII</italic> SNP (summation of P10/10 and P0/10) was more frequent in MPN patients with thrombosis compared to the wild-type genotype carriers (71.4 <italic>vs</italic>. 43.4%; <italic>p</italic> = 0.049; OR 3.26; 95% CI 1.01-11.31). The coexistence of heterozygous β-fibrinogen c.-148C>T and <italic>FVII</italic> c.-323P0/10 SNP, increased the risk of arterial thrombosis (21.1 vs. 3.7%, <italic>p</italic> = 0.008; OR 6.93; 95% CI 1.38-34.80). The TT genotype of <italic>GP</italic> Ia/IIa c.807C>T, the CT genotype of β-fibrinogen c.-148C>T and <italic>FVII</italic> c.-323P0/10 SNP could be associated with risk of thrombosis in MPN patients.</p>
</abstract>

The most important complications of Philadelphianegagive (non BCR-ABL) myeloproliferative neoplasms (MPNs) are vascular events. Our aim was to evaluate the effects of single nucleotide polymorphisms (SNPs), platelet glycoproteins (GPs) (Ia/IIa, Ibα, IIb/IIIa and VI), von Willebrand factor (vWF), coagulation factor VII (FVII), β-fibrinogen, and the risk of thrombosis in patients with non BCR-ABL MPNs at the Lithuanian University of Health Sciences. Kaunas, Lithuania. Genotyping was done for 108 patients. The TT genotype of the GP Ia/IIa c.807C>T polymorphism was more frequently found in the group of MPN patients with arterial thrombosis compared to MPN patients who were thrombosis-free [26.5 vs. 11.5%, p = 0.049; odds ratio (OR) 2.68; 95% confidence interval (95% CI) 1.01-7.38]. The CT genotype of the β-fibrinogen c.-148C>T polymorphism occurred more frequently in MPN patients with arterial, and total thrombosis compared to the wild or homozygous genotype (57.7 vs. 40.0 vs. 12.5%; p = 0.027), (64.7 vs. 44.4 vs. 25%; p = 0.032), respectively. The carrier state for the c.-323P10 variant of FVII SNP (summation of P10/10 and P0/10) was more frequent in MPN patients with thrombosis compared to the wild-type genotype carriers (71.4 vs. 43.4%; p = 0.049; OR 3.26; 95% CI 1.01-11.31). The coexistence of heterozygous β-fibrinogen c.-148C>T and FVII c.-323P0/10 SNP, increased the risk of arterial thrombosis (21.1 vs. 3.7%, p = 0.008; OR 6.93; 95% CI 1.38-34.80). The TT genotype of GP Ia/IIa c.807C>T, the CT genotype of β-fibrinogen c.-148C>T and FVII c.-323P0/10 SNP could be associated with risk of thrombosis in MPN patients.

Genetic polymorphisms of hemostatic factors and thrombotic risk in non <italic>BCR</italic>-<italic>ABL</italic> myeloproliferative neoplasms: A pilot study

Department of Drug Technology and Social Pharmacy

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Genetic polymorphisms of hemostatic factors and thrombotic risk in non - myeloproliferative neoplasms: A pilot study

The most important complications of Philadelphianegagive (non BCR-ABL) myeloproliferative neoplasms (MPNs) are vascular events. Our aim was to evaluate the...

Genetic polymorphisms of hemostatic factors and thrombotic risk in non BCR-ABL myeloproliferative neoplasms: A pilot study

Article Category: Original Article

Pubblicato online: 30 giu 2017

Pagine: 35 - 42

DOI: https://doi.org/10.1515/bjmg-2017-0005

Parole chiave
Genetic polymorphism, Myeloproliferative neoplasia, Thrombosis

© 2017 Dambrauskienė R, Gerbutavičius R, Ugenskienė R, Jankauskaitė R, Savukaitytė A, Šimoliūnienė R, Rudžianskienė M, Gerbutavičienė R, Juozaitytė E

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Genetic polymorphisms of hemostatic factors and thrombotic risk in non BCR-ABL myeloproliferative neoplasms: A pilot study

Article Category: Original Article

Pubblicato online: 30 giu 2017

Pagine: 35 - 42

DOI: https://doi.org/10.1515/bjmg-2017-0005

Parole chiaveGenetic polymorphism, Myeloproliferative neoplasia, Thrombosis

© 2017 Dambrauskienė R, Gerbutavičius R, Ugenskienė R, Jankauskaitė R, Savukaitytė A, Šimoliūnienė R, Rudžianskienė M, Gerbutavičienė R, Juozaitytė E

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
Genetic polymorphism, Myeloproliferative neoplasia, Thrombosis