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Phenotypic Findings Associated with Variation in Elastin.

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    Rare variations in the elastin gene (ELN) are linked to connective tissue disorders beyond known conditions. This study identified new associations, expanding our understanding of ELN

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    Area of Science:

    • Genetics
    • Cardiovascular Medicine
    • Dermatology

    Background:

    • The elastin gene (ELN) is crucial for elastic tissues.
    • ELN variants are known causes of Supravalvar Aortic Stenosis and Cutis Laxa.
    • Potential links between ELN variation and other connective tissue diseases are under investigation.

    Purpose of the Study:

    • To investigate the association between rare ELN variants and connective tissue diseases beyond established phenotypes.
    • To identify novel clinical manifestations linked to ELN gene variations.

    Main Methods:

    • Exome data analysis identified rare ELN variants (MAF <1%, not annotated as benign) in the MyCode Community Health Initiative cohort.
    • Phenotyping was performed via dual chart review using a standardized tool for participants with identified variants.
    • A Phenome-wide Association Study (PheWAS) was conducted using an ELN gene burden score.

    Main Results:

    • 296 participants with rare ELN variants were identified from 184,293 individuals.
    • 41% of eligible participants exhibited connective tissue abnormalities, including aortic hypoplasia, arterial dilation, aneurysm, and dissection.
    • ELN variation showed a significant association with arterial dissection (P <2.8×10^-5) and approached significance for two connective tissue Phecodes.

    Conclusions:

    • ELN gene variation is associated with a broader spectrum of connective tissue pathologies than previously recognized.
    • These findings expand the known phenotypic spectrum of ELN-related disorders.
    • Further research may elucidate the precise mechanisms linking ELN variation to diverse connective tissue abnormalities.