Center for the Study of Myelofibrosis, Laboratory of Biochemistry, Biotechnology and Advanced Diagnostics, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico S. Matteo Foundation, 27100 Pavia, Italy.
Laboratory of Biochemistry, Biotechnology and Advanced Diagnostics, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, 27100 Pavia, Italy.
Genes (Basel). 2021 Aug 20;12(8):1271. doi: 10.3390/genes12081271.
We evaluated the association of rs3025039 polymorphism with clinical co-variates and outcomes in 849 subjects with primary myelofibrosis (PMF) and 250 healthy controls. Minor T-allele frequency was higher in subjects with compared with those without (18% vs. 13%; = 0.014). In subjects with , the TT genotype was associated at diagnosis with lower platelet concentrations ( = 0.033), higher plasma LDH concentration ( = 0.005), higher blood CD34-positive cells ( = 0.027), lower plasma cholesterol concentration ( = 0.046), and higher concentration of high-sensitivity C-reactive protein ( = 0.018). These associations were not found in subjects with PMF without . In subjects with the TT genotype, risk of death was higher compared with subjects with CC/CT genotypes (HR = 2.12 [1.03, 4.35], = 0.041). Finally, the TT genotype was associated with higher frequency of deep vein thrombosis in typical sites (12.5% vs. 2.5%; OR = 5.46 [1.51, 19.7], = 0.009). In conclusion, in subjects with PMF, the rs3025039 CT or TT genotypes are more common in those with than in those without mutation and are associated with disease severity, poor prognosis, and risk of deep vein thrombosis.
我们评估了 rs3025039 多态性与 849 例原发性骨髓纤维化（PMF）患者和 250 例健康对照者的临床协变量和结局的关系。与无 者相比，有 者的 T 等位基因频率更高（18%比 13%；=0.014）。在有 者中，TT 基因型与诊断时较低的血小板浓度（=0.033）、较高的血浆 LDH 浓度（=0.005）、较高的血液 CD34 阳性细胞（=0.027）、较低的血浆胆固醇浓度（=0.046）和较高的高敏 C 反应蛋白浓度（=0.018）相关。在无 PMF 者中未发现这些相关性。在 TT 基因型者中，与 CC/CT 基因型者相比，死亡风险更高（HR=2.12[1.03,4.35]，=0.041）。最后，TT 基因型与典型部位深静脉血栓形成的频率更高相关（12.5%比 2.5%；OR=5.46[1.51,19.7]，=0.009）。总之，在 PMF 患者中，与 CT 或 TT 基因型相比，rs3025039 更常见于 突变阳性者，与疾病严重程度、预后不良和深静脉血栓形成风险相关。
