Muhammad Aliff M, Muhammad Shazwan S, Nur Fariha M M, Hayati A R, Nur Syahrina A R, Maizatul Azma M, Nazefah A H, Jameela S, Asral Wirda A A
Universiti Sains Islam Malaysia, Faculty of Medicine and Health Science, Kuala Lumpur, Malaysia.
Malays J Pathol. 2016 Dec;38(3):285-294.
Antiphospholipid syndrome (APS) is a multisystem disease that may present as venous or arterial thrombosis and/or pregnancy complications with the presence of antiphospholipid antibodies. Until today, heterogeneity of pathogenic mechanism fits well with various clinical manifestations. Moreover, previous studies have indicated that genes are differentially expressed between normal and in the disease state. Hence, this study systematically searched the literature on human gene expression that was differentially expressed in Obstetric APS.
Electronic search was performed until 31st March 2015 through PubMed and Embase databases; where the following Medical Subject Heading (MeSH) terms were used and they had been specified as the primary focus of the articles; gene, antiphospholipid, obstetric, and pregnancy in the title or abstract. From 502 studies retrieved from the search, only original publications that had performed gene expression analyses of human placental tissue that reported on differentially expressed gene in pregnancies with Obstetric APS were included. Two reviewers independently scrutinized the titles and the abstracts before examining the eligibility of studies that met the inclusion criteria. For each study; diagnostic criteria for APS, method for analysis, and the gene signature were extracted independently by two reviewers. The genes listed were further analysed with the DAVID and the KEGG pathways.
Three eligible gene expression studies involving obstetric APS, comprising the datasets on gene expression, were identified. All three studies showed a reduction in transcript expression on PRL, STAT5, TF, DAF, ABCA1, and HBEGF in Obstetric APS. The high enrichment score for functionality in DAVID had been positive regulation of cell proliferation. Meanwhile, pertaining to the KEGG pathway, two pathways were associated with some of the listed genes, which were ErBb signalling pathway and JAK-STAT signalling pathway.
Ultimately, studies on a genetic level have the potential to provide new insights into the regulation and to widen the basis for identification of changes in the mechanism of Obstetric APS.
抗磷脂综合征（APS）是一种多系统疾病，可表现为静脉或动脉血栓形成和/或妊娠并发症，并伴有抗磷脂抗体。迄今为止，致病机制的异质性与各种临床表现相契合。此外，先前的研究表明，正常状态和疾病状态下基因表达存在差异。因此，本研究系统检索了关于产科抗磷脂综合征中差异表达的人类基因表达的文献。
通过PubMed和Embase数据库进行电子检索，检索截至2015年3月31日的文献；使用以下医学主题词（MeSH）术语，并将其指定为文章的主要重点；标题或摘要中的基因、抗磷脂、产科和妊娠。从检索到的502项研究中，仅纳入对人类胎盘组织进行基因表达分析且报告了产科抗磷脂综合征妊娠中差异表达基因的原始出版物。两名评审员在检查符合纳入标准的研究的合格性之前，先独立审查标题和摘要。对于每项研究，两名评审员独立提取APS的诊断标准、分析方法和基因特征。列出的基因进一步通过DAVID和KEGG途径进行分析。
确定了三项涉及产科抗磷脂综合征的合格基因表达研究，包括基因表达数据集。所有三项研究均显示产科抗磷脂综合征中PRL、STAT5、TF、DAF、ABCA1和HBEGF的转录本表达降低。DAVID中功能的高富集分数为细胞增殖的正调控。同时，关于KEGG途径，有两条途径与一些列出的基因相关，即ErBb信号通路和JAK-STAT信号通路。
最终，基因水平的研究有可能为产科抗磷脂综合征机制变化的调控提供新的见解，并拓宽其识别基础。
