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抗磷脂综合征的遗传和表观遗传方面。

Antiphospholipid syndrome's genetic and epigenetic aspects.

机构信息

Rheumatology Unit, Azienda Ospedaliera San Camillo-Forlanini, Roma, Italy.

Rheumatology Institute, University of Siena, Italy.

出版信息

Autoimmun Rev. 2019 Sep;18(9):102352. doi: 10.1016/j.autrev.2019.102352. Epub 2019 Jul 16.

Abstract

Studies on last genetic and epigenetic predisposition to APS are summarized. It is well known that genetic predisposition is in HLA system (DR4 and DRw53) and that lupus anticoagulant (LA) and anticardiolipin antibodies (aCL) are both associated with the same HLA antigens. Other genes, outside the MHC, give their contribution to the development of this autoimmune syndrome, such as IRF5, STAT4 and those related to inherited thrombophilia - factor V Leiden and G20210A prothrombin polymorphisms. Finally, post-transcriptional modifications of anti-beta2GPI antibodies could be implicated too. The most important discovery of last years is that altered microRNAs' expression is linked to autoimmunity, thrombosis, early atherosclerosis, and oxidative stress in APS.

摘要

总结了关于 APS 最后遗传和表观遗传倾向的研究。众所周知,遗传倾向存在于 HLA 系统(DR4 和 DRw53)中,狼疮抗凝剂 (LA) 和抗心磷脂抗体 (aCL) 都与相同的 HLA 抗原相关。MHC 之外的其他基因也对这种自身免疫综合征的发展做出了贡献,如 IRF5、STAT4 和与遗传性血栓形成倾向相关的基因-因子 V 莱顿和凝血酶原 G20210A 突变。最后,抗β2GPI 抗体的转录后修饰也可能与之相关。近年来最重要的发现是,miRNA 表达的改变与 APS 中的自身免疫、血栓形成、早发动脉粥样硬化和氧化应激有关。

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