title: Association of LOXL1 polymorphisms with pseudoexfoliation, glaucoma, intraocular pressure, and systemic diseases in a Greek population. The Thessaloniki eye study.
abstract: OBJECTIVE
  To investigate the association of the two single-nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene with pseudoexfoliation syndrome (PEX), pseudoexfoliative glaucoma (PEXG), and primary open-angle glaucoma (POAG) in a Greek population-based setting, from the Thessaloniki Eye study.
  
  
  METHODS
  A total of 233 subjects with successful DNA extraction, PCR amplification, and genotyping were included in the genetic analysis of G153D and R141L SNPs of LOXL1 gene and classified into four groups: controls (n = 93); subjects with PEX (n = 40); POAG (n = 66); and PEXG (n = 34). Multinomial logistic regression was used to test their association with LOXL1 SNPs with adjustment for covariates. The association of LOXL1 with IOP (in untreated subjects) and with systemic diseases was explored.
  
  
  RESULTS
  Both LOXL1 SNPs were present in high frequencies in controls and cases. The G153D was strongly associated with both PEX (odds ratio [OR] = 23.2, P = 0.003 for allele G) and PEXG (OR = 24.75, P = 0.003 for allele G) and was not associated with POAG (P = 0.451). In contrast, the R141L was not associated with PEX (P = 0.81), PEXG (P = 0.063), or POAG (P = 0.113). No association of the G153D with either intraocular pressure (IOP) or systemic diseases was found.
  
  
  CONCLUSIONS
  In the Thessaloniki Eye Study, the G153D SNP of LOXL1 gene was strongly associated with both PEX and PEXG, whereas the R141L was not associated. No association of the LOXL1 with IOP or with systemic diseases was found. These findings further support the hypothesis that the LOXL1 gene contributes to onset of PEXG through PEX. Gene variants of LOXL1 do not help to identify those with PEX at increased risk for glaucoma development.
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Eleftherios
authors.initials: E
authors.lastname: Anastasopoulos
authors.affiliation: Center for Eye Epidemiology, Jules Stein Eye Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States.
authors.forename: Anne L
authors.initials: AL
authors.lastname: Coleman
authors.affiliation: School of Medicine, Wayne State University, Detroit, Michigan, United States.
authors.forename: M Roy
authors.initials: MR
authors.lastname: Wilson
authors.affiliation: Department of Human Genetics, Department of Biomathematics, David Geffen School of Medicine at UCLA and Department of Biostatistics, UCLA School of Public Health, California, United States.
authors.forename: Janet S
authors.initials: JS
authors.lastname: Sinsheimer
authors.affiliation: Center for Eye Epidemiology, Jules Stein Eye Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States.
authors.forename: Fei
authors.initials: F
authors.lastname: Yu
authors.affiliation: Laboratory of General Biology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Sokratis
authors.initials: S
authors.lastname: Katafigiotis
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Panayiota
authors.initials: P
authors.lastname: Founti
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Angeliki
authors.initials: A
authors.lastname: Salonikiou
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Theofanis
authors.initials: T
authors.lastname: Pappas
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Archimidis
authors.initials: A
authors.lastname: Koskosas
authors.affiliation: Laboratory of General Biology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Theodora
authors.initials: T
authors.lastname: Katopodi
authors.affiliation: Laboratory of General Biology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Alexandros
authors.initials: A
authors.lastname: Lambropoulos
authors.affiliation: Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Fotis
authors.initials: F
authors.lastname: Topouzis
mesh_terms: D000368:Aged; D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D003430:Cross-Sectional Studies; D004247:DNA / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D017889:Exfoliation Syndrome / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D006115:Greece / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011159:Population Surveillance; D012307:Risk Factors; D014065:Tonometry, Ocular; D014505:Urban Population
chemical_list: D004247:DNA; D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human
keywords: LOXL1; pseudoexfoliation; pseudoexfoliative glaucoma