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

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...

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Bibliographic Details
Published inThe American heart journal Vol. 254; pp. 166 - 171
Main Authors Blue, Gillian M., Ip, Eddie K.K., Troup, Michael, Dale, Russell C., Sholler, Gary F., Harvey, Richard P., Dunwoodie, Sally L., Giannoulatou, Eleni, Winlaw, David S.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.2022
Elsevier Limited
Subjects
Asthma
Cardiovascular disease
Cardiovascular diseases
Congenital diseases
Councils
Diabetes
Ethnicity
Gene expression
Gene sequencing
Genes
Genetic diversity
Genomes
Heart
Heart Defects, Congenital - genetics
Heart diseases
Humans
Medical research
Proteins
Scholarships & fellowships
Socioeconomic factors
Thyroid diseases
Transcription factors
Whole genome sequencing
Australia
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Summary: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.
Bibliography:SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ISSN:0002-8703
1097-6744
DOI:10.1016/j.ahj.2022.09.006