rs3825942
This is a variant in the LOXL1 gene that changes a glycine to an aspartate.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
Exfoliation syndrome, susceptibility to; LOXL1-related disorder
View on ClinVar →▶Research that mentions this SNP (2)
▶An Investigation Into LOXL1 Variants in Black South African Individuals With Exfoliation SyndromeAssociationN=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.
▶Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatmentReviewJürgen Brockmöller et al.(2008)· European Journal of Clinical Pharmacology
This comprehensive review article traces the evolution of pharmacogenetics from single-gene analysis to whole-genome approaches. It discusses validated pharmacogenetic biomarkers with clinical impact including CYP2D6, CYP2C9, CYP2C19, TPMT, DPD, VKORC1, UGT1A1, and ADRB1/ADRB2, providing examples of how genetic variants affect drug metabolism and response. The paper emphasizes the importance of integrating pharmacogenetic information into clinical practice and drug development.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…