Paes Jhemerson F, Torres Dania G, Aquino Deborah C, Alves Emanuela V B, Mesquita Erycka A, Sousa Miliane A, Fraiji Nelson Abrahim, Passos Leny N M, Abreu Rosângela S, Silva George A V, Tarragô Andréa M, de Souza Mourão Lucivana P
Programa de Pós-Graduação em Ciências Aplicadas à Hematologia, Universidade do Estado do Amazonas (UEA), Manaus, AM, 69850-000, Brazil.
Fundação Hospitalar de Hematologia e Hemoterapia do Amazonas (FHEMOAM), Manaus, AM, 69050-002, Brazil.
Sci Rep. 2024 Apr 24;14(1):9389. doi: 10.1038/s41598-024-60090-x.
:ABL1-negative myeloproliferative neoplasms are hematopoietic disorders characterized by panmyelosis. JAK2 V617F is a frequent variant in these diseases and often occurs in the 46/1 haplotype. The G allele of rs10974944 has been shown to be associated with this variant, specifically its acquisition, correlations with familial cases, and laboratory alterations. This study evaluated the association between the 46/1 haplotype and JAK2 V617F in patients with myeloproliferative neoplasms in a population from the Brazilian Amazon. Clinical, laboratory and molecular sequencing analyses were considered. Carriers of the G allele of rs10974944 with polycythemia vera showed an increase in mean corpuscular volume and mean corpuscular hemoglobin, while in those with essential thrombocythemia, there was an elevation in red blood cells, hematocrit, and hemoglobin. Associations were observed between rs10974944 and the JAK2 V617F, in which the G allele (OR 3.4; p < 0.0001) and GG genotype (OR 4.9; p = 0.0016) were associated with JAK2 V617F + and an increase in variant allele frequency (GG: OR 15.8; p = < 0.0001; G: OR 6.0; p = 0.0002). These results suggest an association between rs10974944 (G) and a status for JAK2 V617F, JAK2 V617F + _VAF ≥ 50%, and laboratory alterations in the erythroid lineage.
:ABL1阴性骨髓增殖性肿瘤是一类以全髓增殖为特征的造血系统疾病。JAK2 V617F是这些疾病中常见的变异，且常出现在46/1单倍型中。rs10974944的G等位基因已被证明与该变异相关，特别是其获得情况、与家族性病例的相关性以及实验室改变。本研究评估了巴西亚马逊地区人群中骨髓增殖性肿瘤患者46/1单倍型与JAK2 V617F之间的关联。研究考虑了临床、实验室和分子测序分析。患有真性红细胞增多症的rs10974944 G等位基因携带者平均红细胞体积和平均红细胞血红蛋白增加，而患有原发性血小板增多症的患者红细胞、血细胞比容和血红蛋白升高。观察到rs10974944与JAK2 V617F之间存在关联，其中G等位基因（比值比3.4；p < 0.0001）和GG基因型（比值比4.9；p = 0.0016）与JAK2 V617F阳性以及变异等位基因频率增加相关（GG：比值比15.8；p = < 0.0001；G：比值比6.0；p = 0.0002）。这些结果表明rs10974944（G）与JAK2 V617F状态、JAK2 V617F阳性_变异等位基因频率≥50%以及红系谱系的实验室改变之间存在关联。
