首页> 外文期刊>Balkan journal of medical genetics: BJMG >GENETIC POLYMORPHISMS OF HEMOSTATIC FACTORS AND THROMBOTIC RISK IN NON BCR-ABL MYELOPROLIFERATIVE NEOPLASMS: A PILOT STUDY
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GENETIC POLYMORPHISMS OF HEMOSTATIC FACTORS AND THROMBOTIC RISK IN NON BCR-ABL MYELOPROLIFERATIVE NEOPLASMS: A PILOT STUDY

机译:非BCR-ABL肌培养性肿瘤中止血因子和血栓性风险的遗传多态性:试验研究

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The most important complications of Philadelphia-negagive (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, Ib alpha, IIb/IIIa and VI), von Willebrand factor (vWF), coagulation factor VII (FVII), beta-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 beta-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 beta-fibrinogen c.-148C>T and FVII c.-323P0/10 SNP, in-creased 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 beta-fibrinogen c.-148C>T and FVII c.-323P0/10 SNP could be associated with risk of thrombosis in MPN patients.
机译:费城 - 耐用性(非BCR-ABL)髓原瘤(MPN)最重要的并发症是血管事件。我们的目的是评估单一核苷酸多态性(SNP),血小板糖蛋白(GPS)(IA / IIA,IA,IBα,IIB / IIIa和VI),von Willebrand因子(VWF),凝血因子VII(FVII),β的效果 - 立陶宛医药大学血栓形成,以及非BCR-ABL MPN患者血栓形成的风险。立陶宛考纳斯。基因分型为108名患者进行。与血栓形成的MPN患者相比,GP Ia / IIA C.807C> Tt多态性的TT基因型更常见于动脉血栓形成的MPN患者[26.5与11.5%,p = 0.049;赔率比(或)2.68; 95%置信区间(95%CI)1.01-7.38]。 β-纤维蛋白原C.148C> T多态性的CT基因型在MPN患者中发生了多态性,与野生或纯合基因型相比,总血栓形成(57.7与40.0 vs.12.5%; p = 0.027),(64.7与44.4与25%; p = 0.032)。与野生型基因型载体相比,FVII SNP的C.-323P10变体(P10 / 10和P0 / 10的总和)的载体状态更频繁地在血栓形成血栓形成(71.4与43.4%; P = 0.049 ;或3.26; 95%CI 1.01-11.31)。杂合β-纤维蛋白原C.-148C> T和FVII C.-323P0 / 10 SNP的共存,划伤动脉血栓形成的风险(21.1节,3.7%,P = 0.008;或6.93; 95%CI 1.38- 34.80)。 GP IA / IIA C.807C> T,β-纤维蛋白原C.-148C> T和FVII C.-323P0 / 10 SNP的CT基因型可能与MPN患者的血栓形成风险有关。

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