rs893817

This is a regulatory region variant variant in the LOXL1 gene.

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GWAS Catalog Trait Associations (2)

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

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Research that mentions this SNP (1)

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Genetic Variants Associated With Cardiac Structure and Function
Meta-analysisN=16,706Ramachandran S. Vasan et al.(2009)· JAMA

Meta-analysis of genome-wide association studies in 12,612 individuals from the EchoGen consortium identified 16 genetic loci associated with echocardiographic traits in stage 1, with 5 loci replicating in stage 2: rs89107 and rs11153768 (6q22) associated with left ventricular diastolic dimensions (explaining <1% variance), and rs17470137, rs4026608, rs10770612, rs893817 (5q23, 12q14, 12p12, 15q24 loci) associated with aortic root size (explaining 1-3% variance).

Traits studied:Aortic root sizeLeft atrial sizeLeft ventricular diastolic internal dimensionsLeft ventricular massLeft ventricular systolic dysfunctionLeft ventricular wall thickness
PubMedDOIMetascience Observatory

About LOXL1

This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]

View all LOXL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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