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母体候选基因变异、表观遗传因素与特发性复发性妊娠丢失易感性:系统评价。

Maternal candidate gene variants, epigenetic factors, and susceptibility to idiopathic recurrent pregnancy loss: A systematic review.

机构信息

Human Genetics Department, Punjabi University Patiala, Patiala, India.

Chhabra Hospital & Test Tube Baby Centre, Bathinda, India.

出版信息

Int J Gynaecol Obstet. 2023 Sep;162(3):829-841. doi: 10.1002/ijgo.14701. Epub 2023 Mar 1.

Abstract

BACKGROUND

Recurrent pregnancy loss is defined as the loss of two or more pregnancies and is a distressing condition for couples.

OBJECTIVE

To investigate the relationship between variants in the candidate susceptibility genes and epigenetic factors to identify risk factors for idiopathic recurrent pregnancy loss (iRPL).

SEARCH STRATEGY

A systematic literature search was performed using PubMed, Google Scholar, ScienceDirect, and Scopus databases. Insilico analysis was carried out using ShinyGO and STRING software.

SELECTION CRITERIA

Research papers examining the association between variations in genetic and epigenetic factors and iRPL.

DATA COLLECTION AND ANALYSIS

Data were independently extracted by two authors.

MAIN RESULTS

In total, 83 research papers were finally selected for the present study. Among all the genes involved in the pathogenesis of recurrent pregnancy loss, polymorphisms in IL superfamily genes, VEGF, ESR, and MTHFR were the most investigated.

CONCLUSION

Polymorphisms in angiogenesis, immune tolerance, and thrombophilia pathway genes, which occur independently or synergistically, may lead to various complications during fetal development. Identification of multi-allele risk variants and epigenetic factors in women will be helpful in the identification of high-risk pregnancies.

PROSPERO REGISTRATION NUMBER

Prospero CRD42021287315.

摘要

背景

复发性妊娠丢失定义为两次或两次以上妊娠丢失,是夫妇感到痛苦的一种情况。

目的

研究候选易感性基因和表观遗传因素的变异与特发性复发性妊娠丢失(iRPL)之间的关系,以确定风险因素。

搜索策略

使用 PubMed、Google Scholar、ScienceDirect 和 Scopus 数据库进行系统文献检索。使用 ShinyGO 和 STRING 软件进行计算机分析。

选择标准

研究论文检验遗传和表观遗传因素变异与 iRPL 之间的关联。

数据收集和分析

两名作者独立提取数据。

主要结果

最终共有 83 篇研究论文被纳入本研究。在所有与复发性妊娠丢失发病机制相关的基因中,IL 超家族基因、VEGF、ESR 和 MTHFR 中的基因多态性受到了最多的研究。

结论

血管生成、免疫耐受和血栓形成途径基因的多态性,这些基因独立或协同发生,可能导致胎儿发育过程中的各种并发症。鉴定女性的多等位基因风险变异和表观遗传因素将有助于识别高危妊娠。

前瞻性注册号

Prospero CRD42021287315。

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