title: Investigation of Association between Autophagy-Related Gene Polymorphisms and Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma in a Spanish Population.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  108 patients (64 XFS, 44XFG) and 118 healthy controls were evaluated. The analysis of genetic polymorphisms was performed by standard TaqMan allelic discrimination technique.
  
  
  RESULTS
  No significant differences in either genotype distributions or allelic frequencies of the tested polymorphisms were found between patients with XFS/XFG and control subjects.
  
  
  CONCLUSIONS
  Our results suggest that these three genes that are critical components of the autophagy pathway (ATG16L, ATG2B, ATG5) are not significant risk factors among Spanish patients with either XFS or XFG.
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca , Salamanca , Spain.|b Institute for Biomedical Research of Salamanca (IBSAL) , Salamanca , Spain.
authors.forename: Lourdes
authors.initials: L
authors.lastname: de Juan-Marcos
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca , Salamanca , Spain.
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Escudero-Domínguez
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca , Salamanca , Spain.|b Institute for Biomedical Research of Salamanca (IBSAL) , Salamanca , Spain.
authors.forename: Emiliano
authors.initials: E
authors.lastname: Hernández-Galilea
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca , Salamanca , Spain.|b Institute for Biomedical Research of Salamanca (IBSAL) , Salamanca , Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Cruz-González
authors.affiliation: a Department of Ophthalmology , University Hospital of Salamanca , Salamanca , Spain.
authors.forename: Isora
authors.initials: I
authors.lastname: Follana-Neira
authors.affiliation: b Institute for Biomedical Research of Salamanca (IBSAL) , Salamanca , Spain.|c Molecular Medicine Unit, Department of Medicine , University of Salamanca , Salamanca , Spain.|d 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; D001343:Autophagy / Q000235:genetics*; D000071187:Autophagy-Related Protein 5 / Q000235:genetics*; D000071183:Autophagy-Related Proteins / 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*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013030:Spain; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C518959:ATG16L1 protein, human; C572313:ATG2B protein, human; C502778:ATG5 protein, human; D000071187:Autophagy-Related Protein 5; D000071183:Autophagy-Related Proteins; D033921:Vesicular Transport Proteins
keywords: Autophagy; genetics; glaucoma; polymorphisms; pseudoexfoliation