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Genetic polymorphisms and expression of NLRP3 inflammasome-related genes are associated with Philadelphia chromosome-negative myeloproliferative neoplasms
Human Immunology ( IF 2.7 ) Pub Date : 2020-09-25 , DOI: 10.1016/j.humimm.2020.09.001
Ying Zhou 1 , Shuxin Yan 1 , Na Liu 1 , Na He 1 , Amin Zhang 2 , Sibo Meng 3 , Chunyan Ji 1 , Daoxin Ma 1 , Jingjing Ye 1
Affiliation  

Inflammation plays a crucial role in the initiation, progression and prognosis of Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which could be clinically subdivided into polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Nucleotide binding domain (NOD)-like receptor protein 3 (NLRP3) inflammasomes affect inflammatory diseases and carcinomas by excessive production of cytokines. To investigate a possible association of NLRP3 inflammasome signaling with MPN, we investigated the expression of selected inflammasome-related genes from bone marrow cells of 67 MPN patients as well as gene polymorphisms in NLRP3 (rs35829419), NF-κB1 (rs28362491), CARD8 (rs2043211), IL-1β (rs16944), and IL-18 (rs1946518). It showed that inflammasome-related genes (NLRP3, NF-κB1, CARD8, IL-1β, and IL-18) were highly expressed in BM cells from MPN patients and the increased expression was associated with JAK2V617F mutation, white blood cell counts and splenomegaly. Analysis of genetic polymorphisms in 269 MPN patients and 291 healthy controls demonstrated that NF-κB1 (rs28362491) was associated with MPN and increased expression of NF-κB1, NLRP3 and IL-1β. This research provided novel biomarkers and potential targets for MPN.



中文翻译:

NLRP3炎性体相关基因的遗传多态性和表达与费城染色体阴性骨髓增生性肿瘤相关

炎症在费城染色体阴性骨髓增生性肿瘤(MPN)的起始,进展和预后中起关键作用,临床上可将其细分为真性红细胞增多症(PV),原发性血小板增多症(ET)和原发性骨髓纤维化(PMF)。核苷酸结合域(NOD)样受体蛋白3(NLRP3)炎性小体通过细胞因子的过量产生影响炎性疾病和癌症。为了研究NLRP3炎性体信号转导与MPN的可能联系,我们调查了67名MPN患者骨髓细胞中选定的炎性体相关基因的表达以及NLRP3(rs35829419),NF-κB1(rs28362491),CARD8( rs2043211),IL-1β(rs16944)和IL-18(rs1946518)。结果显示与炎症小体相关的基因(NLRP3,NF-κB1,CARD8,IL-1β,JAK2 V617F突变,白细胞计数和脾肿大。对269例MPN患者和291例健康对照者的基因多态性分析表明,NF-κB1(rs28362491)与MPN相关,并且NF-κB1,NLRP3和IL-1β的表达增加。这项研究为MPN提供了新的生物标志物和潜在的目标。

更新日期:2020-10-17
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