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Updated: Jun 6, 2025

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Phenotypic findings associated with variation in elastin.

Anne Justice1, Melissa A Kelly2, Gary Bellus3

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PubMed
Summary

Rare variations in the elastin gene (ELN) are linked to connective tissue disorders, including arterial dissection, beyond previously known conditions. This finding expands our understanding of ELN

Keywords:
aortic hypoplasiaarterial dilation and aneurysmarterial dissectionconnective tissueelastinsupravalvar aortic stenosis

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Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Connective Tissue Diseases

Background:

  • The elastin gene (ELN) is known to be associated with supravalvar aortic stenosis and cutis laxa.
  • Potential contributions of ELN variation to other connective tissue diseases are not fully understood.

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 variation.

Main Methods:

  • Exome data from the MyCode Community Health Initiative was analyzed for rare ELN variants.
  • Participants with identified variants underwent detailed phenotyping via chart review.
  • 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 over 184,000 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 other connective tissue Phecodes.

Conclusions:

  • ELN variation is associated with a broader spectrum of connective tissue pathology than previously recognized.
  • These findings highlight ELN as a significant contributor to diverse connective tissue disorders, including arterial dissection.