Insights into the genetic architecture underlying complex, critical congenital heart disease.

Blue, Gillian M. and Ip, Eddie K.K. and Troup, Michael and Dale, Russell C. and Sholler, Gary F. and Harvey, Richard P. and Dunwoodie, Sally L. and Giannoulatou, Eleni and Winlaw, David S. (2022) Insights into the genetic architecture underlying complex, critical congenital heart disease. American Heart Journal, 254. pp.166-171. ISSN 00028703

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Link to published document: http://doi.org/10.1016/j.ahj.2022.09.006

Abstract

Congenital heart disease (CHD) has a multifactorial aetiology, raising the possibility of an underlying genetic burden, predisposing to disease but also variable expression, including variation in disease severity, and incomplete penetrance. Using whole genome sequencing (WGS), the findings of this study, indicate that complex, critical CHD is distinct from other types of disease due to increased genetic burden in common variation, specifically among established CHD genes. Additionally, these findings highlight associations with regulatory genes and environmental "stressors" in the final presentation of disease.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 03 Mar 2023 04:17
Last Modified: 03 Mar 2023 04:17
URI: http://eprints.victorchang.edu.au/id/eprint/1330

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