title: Association of Lysyl Oxidase-Like 1 Gene Polymorphisms in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population.
abstract: OBJECTIVE
  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).
  
  
  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.
  
  
  RESULTS
  The G allele and the GG genotype of SNP rs3825942 were detected at a statistically higher frequency in pseudoexfoliation patients than in control subjects (p = 3.36 × 10(-5), OR = 5.71, 95% CI: 2.30-14.18; p = 3.38 × 10(-5), OR = 6.91, 95% CI: 2.51-19.03 respectively). The T allele and the TT genotype of SNP rs2165241 presented at significantly higher frequencies in pseudoexfoliation patients than in controls (p = 2.50 × 10(-4), OR = 2.18, 95% CI: 1.43-3.33; p = 1.21 × 10(-2), OR = 2.13, 95% CI: 1.75-3.85 respectively). No significant association between XFS/XFG and the rs1048661 was observed. The GGT haplotype composed of all three risk alleles was determined to be significantly associated with pseudoexfoliation. The genotypic and allelic distributions of the three SNPs were similar between XFS and XFG.
  
  
  CONCLUSIONS
  This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe. However rs1048661 SNP did not show an association with XFS.
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca .|b Institute for Biomedical Research of Salamanca (IBSAL) .
authors.forename: Lourdes
authors.initials: L
authors.lastname: de Juan-Marcos
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca .
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Escudero-Domínguez
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca .|b Institute for Biomedical Research of Salamanca (IBSAL) .
authors.forename: Emiliano
authors.initials: E
authors.lastname: Hernández-Galilea
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca .
authors.forename: Lucía
authors.initials: L
authors.lastname: Cabrillo-Estévez
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca .|b Institute for Biomedical Research of Salamanca (IBSAL) .
authors.forename: Fernando
authors.initials: F
authors.lastname: Cruz-González
authors.affiliation: c Molecular Medicine Unit, Department of Medicine , University of Salamanca .
authors.forename: Clara
authors.initials: C
authors.lastname: Cieza-Borrella
authors.affiliation: d Department of Medicine , University of Salamanca , and.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Sánchez-Barba
authors.affiliation: b Institute for Biomedical Research of Salamanca (IBSAL) .|c Molecular Medicine Unit, Department of Medicine , University of Salamanca .|e Institute of Molecular and Cellular Biology of Cancer (BMCC), University of Salamanca-CSIC , Salamanca , Spain.
authors.forename: Rogelio
authors.initials: R
authors.lastname: González-Sarmiento
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D013030:Spain; D044465:White People
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human
keywords: Genetics; LOXL1; glaucoma; polymorphisms; pseudoexfoliation