FAS/FASL gene polymorphisms in Turkish patients with chronic myeloproliferative disorders.
FAS/FASL gene polymorphisms in Turkish patients with chronic myeloproliferative disorders.
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DOI：
10.5114/aoms.2015.53963
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发表时间：
2017-03-01
期刊：
影响因子：
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通讯作者：
Berdeli A
中科院分区：
文献类型：
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作者：
Ozdemirkiran FG;Nalbantoglu S;Gokgoz Z;Payzin BK;Vural F;Cagirgan S;Berdeli A
慢性骨髓增生性疾病（CMPD）是慢性骨髓性血液疾病，其特征在于骨髓细胞增殖和纤维化增加。细胞凋亡机制受损，细胞增殖增加，造血细胞增殖失控和骨髓蓄积可能有助于CMPD的发病机制。本研究旨在探讨FAS/FASL基因多态性在CMPD发病机制中的可能作用，并探讨其与临床参数和疾病易感性的关系。我们纳入了101例CMPD患者（34例真性红细胞增多症（PV），23例原发性骨髓纤维化（PMF），44例原发性血小板增多症（ET））和95例健康对照。检测FAS/FASL基因表达、等位基因频率、表型特征及FAS mRNA水平。慢性骨髓增生性疾病患者FAS-670 AG + GG基因型分布较对照组增加（p < 0.05）。虽然A等位基因在两组中更常见，但AG基因型在CMPD患者中更常见。FAS-670 A>G基因多态性与脾肿大、血栓形成等临床指标无相关性（p > 0.05）。FASL+843 C>T基因型和等位基因频率在两组间差异无统计学意义（p > 0.05）。此外，在FASL和JAK 2 V617 F突变中未检测到统计学显著差异（p > 0.05）。与健康受试者相比，患者FAS mRNA表达降低1.5倍。FAS/FASL基因表达可能参与了CMPD的分子和免疫发病机制。需要更多的调查来支持这些数据。
Chronic myeloproliferative disorders (CMPD) are chronic myeloid hematological disorders, characterized by increased myeloid cell proliferation and fibrosis. Impaired apoptotic mechanisms, increased cell proliferation, uncontrolled hematopoietic cell proliferation and myeloaccumulation may contribute to the pathogenesis of CMPD. The aim of our study was to show the possible role of FAS/FASL gene polymorphisms in CMPD pathogenesis and investigate the association with clinical parameters and susceptibility to disease. We included 101 (34 polycythemia vera (PV), 23 primary myelofibrosis (PMF), 44 essential thrombocythemia (ET)) CMPD patients diagnosed according to the WHO classification criteria and 95 healthy controls in this study. All the patients and the controls were investigated for FAS/FASL gene expression, allele frequencies and phenotype features, and also FAS mRNA levels were analyzed. Chronic myeloproliferative disorders patients showed increased FAS-670AG + GG genotype distribution compared with the control group (p < 0.05). While the A allele was more frequent in both groups, AG genotype was more frequent in CMPD patients. There was no association between FAS-670A>G gene polymorphism and some clinical parameters such as splenomegaly and thrombosis (p > 0.05). No statistically significant difference in FASL+843C>T genotype or allele frequency was found between groups (p > 0.05). Moreover, no statistically significant difference was detected in FASL and JAK2V617F mutations (p > 0.05). FAS mRNA expression was 1.5-fold reduced in patients compared to healthy subjects. According to our findings, FAS/FASL gene expression may contribute to the molecular and immunological pathogenesis of CMPD. More investigations are needed to support these data.