| Title: | Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes |
| Journal: | Journal of Human Genetics |
| Published: | 7 Sep 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/34493817/ |
| DOI: | https://doi.org/10.1038/s10038-021-00976-0 |
| URL: | https://www.nature.com/articles/s10038-021-00976-0.pdf |
| Citations: | 7 (4 in last 2 years) as of 8 Aug 2024 |
Publication 5644
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Abstract
Congenital heart disease (CHD) has a complex and largely uncharacterised genetic etiology. Using 200,000 UK Biobank (UKB) exomes, we assess the burden of ultra-rare, potentially pathogenic variants in the largest case/control cohort of predominantly mild CHD to date. We find an association with GATA6, a member of the GATA family of transcription factors that play an important role during heart development and has been linked with several CHD phenotypes previously. Several identified GATA6 variants are previously unreported and their roles in conferring risk to CHD warrants further study. We demonstrate that despite limitations regarding detailed familial phenotype information in large-scale biobank projects, through careful consideration of case and control cohorts it is possible to derive important associations.14 Keywords
- Biological Specimen Banks
- Case-Control Studies
- Cohort Studies
- Exome Sequencing
- GATA6 Transcription Factor
- Genetic Predisposition to Disease
- Genetic Variation
- Genome-Wide Association Study
- Heart Defects, Congenital
- Humans
- Odds Ratio
- Phenotype
- Risk Factors
- United Kingdom
3 Authors
- Simon G. Williams
- Dominic J. F. Byrne
- Bernard D. Keavney
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