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DDX58基因177C>T多态性与爱泼斯坦-巴尔病毒相关的结节硬化型经典霍奇金淋巴瘤风险降低的关联。

Association of DDX58 177 C > T polymorphism with decreased risk of Epstein-Barr virus-related nodular sclerosis classical Hodgkin lymphoma.

作者信息

Martin Paloma, Martínez-Velasquez Jimena, Coronado Maria Jose, Krsnik Isabel, Provencio Mariano, Navarro Belen, Moraru Manuela, Bellas Carmen, Vilches Carlos, Gomez-Lozano Natalia

机构信息

a Group of Molecular Pathology , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.

b Group of Immunity and Lymphoproliferative Diseases , Instituto de Investigación Puerta de Hierro (IDIPHIM) , Majadahonda , Spain.

出版信息

Leuk Lymphoma. 2017 Feb;58(2):438-444. doi: 10.1080/10428194.2016.1190972. Epub 2016 Jun 7.

Abstract

Classical Hodgkin lymphoma (cHL) is frequently related to Epstein-Barr virus (EBV) infection. Its malignant capacity is attributed to disruption of an EBV-host balance influenced by environmental and genetic drivers. EBV structures activate Type I interferon (IFN) pathway of the innate immunity, therefore, genetic polymorphisms could influence this response. We explored the impact of four single nucleotide polymorphisms (SNPs) on EBV-associated cHL susceptibility. Toll-like receptors 9 (TLR9_rs5743836), and 3 (TLR3_rs3775291), Interleukin-28B (IL28B_rs12979860), and DEAD-box polypeptide 58 (DDX58_rs10813831) were genotyped in 73 EBV-positive and 106 EBV-negative cHL patients and 396 controls. Only DDX58_rs10813831 T-allele was decreased among EBV-positive cHL compared to controls. A stratified analysis in EBV-positive cHL showed that the reduced rate was associated with younger age and nodular sclerosis. In conclusion, DDX58_rs10813831 T-allele may be associated with a reduced risk of nodular sclerosis EBV-related cHL, which suggests a role for RIG-I (retinoic acid-inducible gene I), encoded by DDX58, in these cases.

摘要

经典型霍奇金淋巴瘤(cHL)常与爱泼斯坦-巴尔病毒(EBV)感染相关。其恶性能力归因于受环境和遗传驱动因素影响的EBV-宿主平衡的破坏。EBV结构激活先天性免疫的I型干扰素(IFN)途径,因此,基因多态性可能影响这种反应。我们探讨了四个单核苷酸多态性(SNP)对EBV相关cHL易感性的影响。对73例EBV阳性和106例EBV阴性cHL患者及396名对照进行了Toll样受体9(TLR9_rs5743836)、3(TLR3_rs3775291)、白细胞介素-28B(IL28B_rs12979860)和DEAD盒多肽58(DDX58_rs10813831)的基因分型。与对照相比,EBV阳性cHL患者中只有DDX58_rs10813831的T等位基因减少。对EBV阳性cHL的分层分析表明,降低率与年轻和结节硬化有关。总之,DDX58_rs10813831的T等位基因可能与结节硬化型EBV相关cHL的风险降低有关,这表明在这些病例中,由DDX58编码的视黄酸诱导基因I(RIG-I)发挥了作用。

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