rs2165241

This is a upstream gene variant variant in the LOXL1 gene.

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GWAS Catalog Trait Associations (5)

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

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ClinVar annotation

Risk Factor
1 submitter1 publication

Exfoliation syndrome, susceptibility to

View on ClinVar →
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Research that mentions this SNP (1)

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An Investigation Into LOXL1 Variants in Black South African Individuals With Exfoliation Syndrome
AssociationN=90Rautenbach RM et al.(2011)· Archives of Ophthalmology

This case-control study examined two LOXL1 gene variants (rs1048661 R141L and rs3825942 G153D) in 43 black South African patients with exfoliation syndrome (XFS) and 47 ethnically matched controls. Both SNPs were significantly associated with XFS (P=0.00582 and P<0.00001, respectively), but notably the AA genotype of G153D (odds ratio 17.10, 95% CI 4.91-59.56) was the primary risk genotype, contrasting with other populations where the GG genotype conferred risk.

Traits studied:Exfoliation glaucomaExfoliation syndrome
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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