rs34208922

This variant is located in the ELN gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

diverticular disease

Wu Y et al. “150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility.” Cell Genomics 3(7):100326 (2023)

Allele C

OR 0.06

p 3.0e-19

N 454,768

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

Cutis laxa, autosomal dominant; Supravalvar aortic stenosis (SVAS)

View on ClinVar →

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Research that mentions this SNP (1)

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Common genetic polymorphisms in Moyamoya and atherosclerotic disease in Europeans

AssociationN=108Constantin Roder et al.(2011)· Child's Nervous System

Case-control study of 40 European Moyamoya disease patients versus 68 controls found a significant association between rs599839 (A/G, OR=2.17, 95% CI=1.17-4.05, p=0.01) in the PSRC1 gene and Moyamoya disease, along with three additional SNPs showing borderline significance in ELN and CXCL12 genes. The findings suggest shared genetic pathways between Moyamoya disease and atherosclerotic disease.

Traits studied:Atherosclerotic diseaseMoyamoya disease

PubMed DOI Metascience Observatory

About ELN

This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]