Genetic and genomic associations in antiphospholipid syndrome: A systematic review

IF 9.2 1区医学 Q1 IMMUNOLOGY

Autoimmunity reviews Pub Date : 2025-01-31 DOI:10.1016/j.autrev.2024.103712

Joseph Zouein , Nabih Naim , Diane M. Spencer , Thomas L. Ortel

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引用次数: 0

Abstract

Background

Numerous genes have been associated with APS in the literature. In recent years, microRNA (miRNA) and long non-coding RNA (lncRNA) have also been shown to modulate the expression of APS-related genes.

Objective

We performed a systematic review to identify all studies reporting on genetic mechanisms that have been shown to be associated with APS.

Methods

An extensive literature search was performed in the PubMed, Cochrane and Web of Science databases gathering all available articles through February 2024. We only selected case-control studies that met inclusion criteria and that focused on genetic contributors and modifiers related to primary APS.

Results

Sixty studies were selected for data extraction. Selected studies were grouped into 8 broad categories for review and analysis: (1) gene expression studies; (2) thrombophilia genotypes; (3) single nucleotide polymorphisms (SNPs); (4) interferon-inducible genes; (5) microRNA studies; (6) long non-coding RNA (lncRNA) studies; (7) DNA methylation studies; and (8) differential gene expression studies. Several genes have been identified as associated with APS by more than one approach, including TF, complement associated genes, and interferon-inducible genes. It has been demonstrated that miRNA and lncRNA may alter the expression of important genes in patients with APS.

Conclusion

This systematic review has helped highlight important genes implicated in APS. Most importantly, pathways such as thrombosis/hemostasis, complement and interferon appear to be involved. Further studies are needed to help uncover important genes that could serve as biomarkers.

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抗磷脂综合征的遗传和基因组关联：系统综述。

背景：文献中已发现许多与APS相关的基因。近年来，微RNA （miRNA）和长链非编码RNA （lncRNA）也被证明可以调节aps相关基因的表达。目的：我们进行了一项系统综述，以确定所有报告与APS相关的遗传机制的研究。方法：在PubMed、Cochrane和Web of Science数据库中进行广泛的文献检索，收集截至2024年2月的所有可用文章。我们只选择符合纳入标准的病例对照研究，并关注与原发性APS相关的遗传因素和修饰因子。结果：选取60项研究进行数据提取。所选研究分为8大类进行回顾和分析：(1)基因表达研究；(2)血栓形成基因型；(3)单核苷酸多态性；(4)干扰素诱导基因；(5) microRNA研究；长链非编码RNA （lncRNA）研究；(7) DNA甲基化研究；(8)差异基因表达研究。一些基因已经被不止一种方法鉴定为与APS相关，包括TF、补体相关基因和干扰素诱导基因。研究表明，miRNA和lncRNA可能改变APS患者重要基因的表达。结论：本系统综述有助于揭示与APS相关的重要基因。最重要的是，血栓/止血、补体和干扰素等途径似乎参与其中。需要进一步的研究来帮助发现可以作为生物标志物的重要基因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Autoimmunity reviews 医学-免疫学

CiteScore

24.70

自引率

4.40%

发文量

164

审稿时长

21 days

期刊介绍： Autoimmunity Reviews is a publication that features up-to-date, structured reviews on various topics in the field of autoimmunity. These reviews are written by renowned experts and include demonstrative illustrations and tables. Each article will have a clear "take-home" message for readers. The selection of articles is primarily done by the Editors-in-Chief, based on recommendations from the international Editorial Board. The topics covered in the articles span all areas of autoimmunology, aiming to bridge the gap between basic and clinical sciences. In terms of content, the contributions in basic sciences delve into the pathophysiology and mechanisms of autoimmune disorders, as well as genomics and proteomics. On the other hand, clinical contributions focus on diseases related to autoimmunity, novel therapies, and clinical associations. Autoimmunity Reviews is internationally recognized, and its articles are indexed and abstracted in prestigious databases such as PubMed/Medline, Science Citation Index Expanded, Biosciences Information Services, and Chemical Abstracts.