Abstract
The Congenital Heart Disease Genetic Knowledge Base (CHDGKB) was established in 2020 to provide comprehensive knowledge about the genetics and pathogenesis of non-syndromic CHD (NS-CHD). In addition to the genetic causes of NS-CHD, environmental factors such as maternal drug use and gene-environment interactions can also lead to CHD. There is a need to integrate this information into a platform for clinicians and researchers to better understand the overall risk factors associated with NS-CHD. The updated CHDGKB contains the genetic and non-genetic risk factors from over 4200 records from PubMed that was manually curated to include the information associated with NS-CHD. The current version of CHDGKB, named CHD-RF-KB (KnowledgeBase for non-syndromic Congenital Heart Disease-associated Risk Factors), is an important tool that allows users to evaluate the recurrence risk and prognosis of NS-CHD, to guide treatment and highlight the precautions of NS-CHD. In this update, we performed extensive functional analyses of the genetic and non-genetic risk information in CHD-RF-KB. These data can be used to systematically understand the heterogeneous relationship between risk factors and NS-CHD phenotypes.
Highlights
Congenital heart disease (CHD) is the most common cause of heart disease with an estimated incidence of 0.7–1% per live birth [1,2]
Largescale studies have suggested that environmental factors such as parental drug profiles, maternal health status can cause or interact with genetic variations to contribute to CHD [9,10,11,12]
The updated database presented in this study provides a useful tool for researchers to systematically study the prognosis, risk of recurrence, and to evaluate treatments for NS-CHD
Summary
Congenital heart disease (CHD) is the most common cause of heart disease with an estimated incidence of 0.7–1% per live birth [1,2]. Reports have shown that genetics plays an important role in the process of CHD and that chromosomal abnormalities, copy number variations, mutations (including single nucleotide polymorphism) [3,4,5], hypomethylation [6] and functional variants in microRNAs contribute to the development of CHD [7]. These genetic variations disrupt or alter the function of genes during the normal development of the heart.
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