Publications by authors named "Francisco A Escudero-Dominguez"
Article Synopsis
- Exfoliation syndrome (XFS) is a significant risk factor for secondary glaucoma, contributing to blindness globally, with known genetic variants in LOXL1 and CACNA1A linked to the condition.
- Researchers conducted a study analyzing samples from multiple countries, discovering a rare protective allele at LOXL1 and refining its association, which had been previously inconsistent across different populations.
- A genome-wide association study identified seven significant genetic loci related to XFS, providing new insights into its biological mechanisms and emphasizing the role of rare LOXL1 variants in the disease's development.
Investigation of Association between Autophagy-Related Gene Polymorphisms and Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population.
Semin Ophthalmol
May 2018
Purpose: Cellular stress conditions are important mechanisms implicated in the pathogenesis of pseudoexfoliation syndrome. One of the potential cellular responses to these stress conditions is induction of autophagy. The purpose of this study was to evaluate whether genetic variants in three critical genes of autophagy (ATG16L, ATG2B, ATG5) may be involved in the development of pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) in a Spanish population.
View Article and Find Full Text PDFPurpose: To evaluate the association of the lysyl oxidase-like 1 (LOXL1) single nucleotide polymorphisms (SNPs) in a Spanish population with pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG).
Materials And Methods: The present case-control study included 100 Spanish patients (60 patients with XFS and 40 patients with XFG) and 90 control subjects. Genotypes of the three single nucleotide polymorphisms of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing.