背景:先天性心脏病(CTD)是先天性心脏病(CHD)的一个子集,涉及右侧的结构异常,左,或者两个心脏流出道。CHD是由基因或染色体的多因素遗传和变化引起的。最近,CHD被发现是由于表观遗传改变,这是遗传和其他环境因素的结合。表观遗传学是研究基因的功能如何由于环境和行为的影响而发生变化。这些致病因素可以通过表观遗传修饰改变DNA间接导致CHD。这是一项系统评价和荟萃分析的方案,旨在探索各种表观遗传变化和CTD类型之间的关联强度是否因种族而异。此外,来确定和比较每个突变基因表达的变化。
方法:我们的方案遵循系统评价和荟萃分析方案(PRISMA-P)指南的首选报告项目。已在PubMed和PubMed的医学主题词(MeSH)中开发了全面的预搜索。最终搜索将于2023年6月在PubMed进行,Embase,Scopus,WebofScience,科克伦图书馆,CIANHL,和PsycInfo,对出版年限没有限制。Covidence系统评价软件将用于盲法筛选和选择。冲突将由三分之一解决,独立审稿人。将使用国家心脏评估选定研究中的偏倚风险,肺,和血液研究所(NHLBI)用于观察队列和横断面研究的质量评估工具。提取的数据将涵盖纳入研究的基本信息,研究样本量,具有各种类型的表观遗传变化的患者数量,各种CTD类型的患者数量,每个表观遗传变化和每个CTD之间的关联测量及其95%置信区间。该方案已在国际Prospero系统评价登记册(PROSPERO)[CRD42023377597]注册。
结论:据我们所知,该方案概述了CTD表观遗传学的首次系统评价和荟萃分析.越来越多的证据表明表观遗传学及其通过与CHD致病因素相关的基因的表观遗传修饰改变DNA而间接参与疾病。我们将对上述七个核心生物医学数据库中的文献进行全面、系统的检索。确定CHD的特定人群危险因素非常重要,这将具有重要的创造力,定制,以及为下一代制定有效的预防计划。
BACKGROUND: Conotruncal congenital heart defects (CTD) are a subset of congenital heart diseases (CHD) that involve structural anomalies of the right, left, or both cardiac outflow tracts. CHD is caused by multifactorial inheritance and changes in the genes or chromosomes. Recently, CHD was found to be due to epigenetic alterations, which are a combination of genetic and other environmental factors. Epigenetics is the study of how a gene\'s function changes as a result of environmental and behavioral influences. These causative factors can indirectly cause CHD by altering the DNA through epigenetic modifications. This is a protocol for a systematic
review and meta-analysis that aims to explore whether the strength of association between various epigenetic changes and CTD types varies by race. Furthermore, to determine and compare the changes in gene expression of each mutation.
METHODS: Our protocol follows the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocol (PRISMA-P) guidelines. A comprehensive pre-search has been developed in PubMed and PubMed\'s Medical Subject Headings (MeSH). The final search will be performed in June 2023 in PubMed, Embase, Scopus, Web of Science, Cochrane Library, CIANHL, and PsycInfo, without restrictions on publication years. The Covidence systematic
review software will be used for blinded screening and selection. Conflicts will be resolved by a third, independent reviewer. The risk of bias in selected studies will be assessed using the National Heart, Lung, and Blood Institute (NHLBI) Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. The data to be extracted will cover basic information on the included studies, study sample size, number of patients with various types of epigenetic changes, number of patients with various CTD types, measures of association and their 95% confidence interval between each epigenetic change and each CTD. The protocol has been registered with the International Prospero Register of Systematic
Review (PROSPERO) [CRD42023377597].
CONCLUSIONS: To the best of our knowledge, this protocol outlines the first systematic
review and meta-analysis of the epigenetics of CTD. There is a growing body of evidence on epigenetics and its indirect involvement in disease by altering the DNA through epigenetic modifications in the genes associated with the causative factors for CHD. We will conduct a comprehensive and systematic search for literature in the above-mentioned seven core biomedical databases. It is very important to identify population-specific risk factors for CHD, which will have significant creative, custom-made, and effective prevention programs for the future generation.