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

Autor: Blue GM; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, The University of Sydney, Sydney, Australia., Ip EKK; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Troup M; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Dale RC; Sydney Medical School, The University of Sydney, Sydney, Australia., Sholler GF; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, The University of Sydney, Sydney, Australia., Harvey RP; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia; School of Biotechnology and Biomolecular Science, UNSW Sydney, Sydney, Australia., Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia., Giannoulatou E; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia., Winlaw DS; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, The University of Sydney, Sydney, Australia; Cincinnati Children's Hospital Medical Center, Heart Institute, Cardiothoracic Surgery, Cincinnati, OH. Electronic address: david.winlaw@cchmc.org.
Jazyk: angličtina
Zdroj: American heart journal [Am Heart J] 2022 Dec; Vol. 254, pp. 166-171. Date of Electronic Publication: 2022 Sep 15.
DOI: 10.1016/j.ahj.2022.09.006
Abstrakt: 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.
(Copyright © 2022. Published by Elsevier Inc.)
Databáze: MEDLINE
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