非骨髓增殖性肿瘤中止血因子的基因多态性与血栓形成风险：一项初步研究。
Genetic Polymorphisms of Hemostatic Factors and Thrombotic Risk in Non - Myeloproliferative Neoplasms: A Pilot Study.
作者信息
Dambrauskienė R, Gerbutavičius R, Ugenskienė R, Jankauskaitė R, Savukaitytė A, Šimoliūnienė R, Rudžianskienė M, Gerbutavičienė R, Juozaitytė E
机构信息
Department of Oncology and Hematology, Institute of Oncology, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Lithuanian University of Health Sciences, Institute of Oncology, Oncology Research Laboratory, Kaunas, Lithuania.
出版信息
Balkan J Med Genet. 2017 Jun 30;20(1):35-42. doi: 10.1515/bjmg-2017-0005.
The most important complications of Philadelphianegagive (non -) 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 - MPNs at the Lithuanian University of Health Sciences. Kaunas, Lithuania. Genotyping was done for 108 patients. The TT genotype of the 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 . 11.5%, = 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 . 40.0 . 12.5%; = 0.027), (64.7 . 44.4 . 25%; = 0.032), respectively. The carrier state for the c.-323P10 variant of 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 . 43.4%; = 0.049; OR 3.26; 95% CI 1.01-11.31). The coexistence of heterozygous β-fibrinogen c.-148C>T and c.-323P0/10 SNP, increased the risk of arterial thrombosis (21.1 vs. 3.7%, = 0.008; OR 6.93; 95% CI 1.38-34.80). The TT genotype of Ia/IIa c.807C>T, the CT genotype of β-fibrinogen c.-148C>T and c.-323P0/10 SNP could be associated with risk of thrombosis in MPN patients.
费城阴性（非）骨髓增殖性肿瘤（MPN）最重要的并发症是血管事件。我们的目的是评估单核苷酸多态性（SNP）、血小板糖蛋白（GP）（Ia/IIa、Ibα、IIb/IIIa和VI）、血管性血友病因子（vWF）、凝血因子VII（FVII）、β-纤维蛋白原以及立陶宛健康科学大学非MPN患者的血栓形成风险。立陶宛考纳斯。对108例患者进行了基因分型。与无血栓形成的MPN患者相比，动脉血栓形成的MPN患者组中Ia/IIa c.807C>T多态性的TT基因型更为常见[26.5%对11.5%，P = 0.049；优势比（OR）2.68；95%置信区间（95%CI）1.01 - 7.38]。与野生型或纯合子基因型相比，β-纤维蛋白原c.-148C>T多态性的CT基因型在动脉血栓形成和总体血栓形成的MPN患者中出现得更频繁（分别为57.7%对40.0%对12.5%，P = 0.027），（64.7%对44.4%对25%，P = 0.032）。与野生型基因型携带者相比，MPN血栓形成患者中SNP的c.-323P10变体的携带状态（P10/10和P0/10的总和）更为常见（71.4%对43.4%，P = 0.049；OR 3.26；95%CI 1.01 - 11.31）。杂合子β-纤维蛋白原c.-148C>T和c.-323P0/10 SNP共存会增加动脉血栓形成的风险（21.1%对3.7%，P = 0.008；OR 6.93；95%CI 1.38 - 34.80）。Ia/IIa c.807C>T的TT基因型、β-纤维蛋白原c.-148C>T的CT基因型和c.-323P0/10 SNP可能与MPN患者的血栓形成风险相关。
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