Abstract
Congenital heart disease (CHD) is one of the most common birth defects, with complex genetic and environmental etiologies. The reports of genetic variation associated with CHD have increased dramatically in recent years due to the revolutionary development of molecular technology. However, CHD is a heterogeneous disease, and its genetic origins remain inconclusive in most patients. Here we present a database of genetic variations for non-syndromic CHD (NS-CHD). By manually literature extraction and analyses, 5345 NS-CHD-associated genetic variations were collected, curated and stored in the public online database. The objective of our database is to provide the most comprehensive updates on NS-CHD genetic research and to aid systematic analyses of pathogenesis of NS-CHD in molecular level and the correlation between NS-CHD genotypes and phenotypes. Database URL: http://www.sysbio.org.cn/CHDGKB/
Highlights
Congenital heart disease (CHD) is one of the most prevalent birth defects, ranging from 6.9 per 1000 births in Europe to 9.3 per 1000 births in Asia [1, 2]
As studies in recent decades have mainly focused on the effect of cardiac surgery on CHD patients [10] or the incidence of CHD subtypes with genetic variations [11] at a systematic analysis level, there is no available database associated with genetic etiology of CHD
For inclusion in the CHD genetic knowledge database (CHDGKB), a study had to meet the following criteria: (i) all the patients incorporated into the CHDGKB presented with clinical features of CHD and had echocardiographic evidence or surgical records and (ii) all data in our CHDGKB was collected based on the inclusion criteria requiring that all the included studies were performed in accordance with their approved institutional guidelines and with the informed consent signed by all human study subjects
Summary
Congenital heart disease (CHD) is one of the most prevalent birth defects, ranging from 6.9 per 1000 births in Europe to 9.3 per 1000 births in Asia [1, 2]. While environmental factors have been shown to greatly contribute to the onset and progression of CHD [3], the huge impact of genetic defects on the pathogenesis of CHD during cardiac development has been well. The database presented in our current study provides investigators and the public with a systematic and comprehensive understanding of the genetic etiologies of non-syndromic CHD (NS-CHD) to improve the interpretation of the NS-CHD variants
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