An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease

Lan Yang; Xingyun Liu; Yalan Chen; Bairong Shen

doi:10.1016/j.csbj.2021.10.017

An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease

Comput Struct Biotechnol J. 2021 Oct 13:19:5741-5751. doi: 10.1016/j.csbj.2021.10.017. eCollection 2021.

Authors

Lan Yang^{1

2}, Xingyun Liu^{2

3}, Yalan Chen², Bairong Shen³

Affiliations

¹ Center of Prenatal Diagnosis, Wuxi Maternal and Child Health Hospital affiliated to Nanjing Medical University, Wuxi, China.
² Center for Systems Biology, Soochow University, Suzhou 215006, China.
³ Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

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.

Keywords: Congenital heart disease; Environmental; Non-syndromic; Risk factor.