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    Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.

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    Authors
    Williams, Simon G
    Byrne, Dominic J F
    Keavney, Bernard D; orcid: 0000-0001-9573-0812; email: bernard.keavney@manchester.ac.uk
    Publication Date
    2021-09-07
    Submitted date
    2021-07-21
    
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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. [Abstract copyright: © 2021. The Author(s).]
    Citation
    Journal of human genetics
    URI
    http://hdl.handle.net/10034/625904
    Type
    article
    Description
    From PubMed via Jisc Publications Router
    History: received 2021-07-21, accepted 2021-08-24, revised 2021-08-24
    Publication status: aheadofprint
    Funder: British Heart Foundation; Grant(s): RG/15/12/31616
    Funder: British Heart Foundation (BHF); Grant(s): RG/15/12/31616
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