title: Association of Lysyl Oxidase-Like 1 Gene Polymorphism in Turkish Patients With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.
abstract: OBJECTIVE
  To investigate the genetic association of lysyl oxidase-like 1 (LOXL1) gene polymorphisms in patients with pseudoexfoliation (PEX) syndrome and PEX glaucoma of Turkish descent.
  
  
  METHODS
  Three LOXL1 single nucleotide polymorphisms (SNPs) (rs1048661, rs3825942, and rs2165241) were analyzed in 109 Turkish patients (44 patients with PEX syndrome, 65 patients with PEX glaucoma) and 47 healthy subjects.
  
  
  RESULTS
  "A" allele of SNP rs3825942 was underrepresented in control group compared with the glaucoma [odds ratio (OR)=4.5, confidence interval (CI): 95%] and syndrome (OR=4.5, CI: 95%) groups. "AA+AG" genotype of SNP rs3825942 was more frequent in the syndrome group (OR=10, CI: 95%) rather than the control group. "GT" genotype of SNP rs1048661 was presented less frequently in the control group compared with the glaucoma group (OR=4.25, CI: 95%). "T" allele of SNP rs1048661 was more frequent in glaucoma group (OR=2.05, CI: 95%) compared with control group. "T" allele of SNP rs2165241 was more frequent in the syndrome (OR=2.59, CI: 95%) and the glaucoma group (OR=3.78, CI: 95%) compared with the control group. "TT" genotype of SNP rs2165241 was underrepresented in control group compared with the syndrome (OR=3.85, CI: 95%) and the glaucoma (OR=6.58, CI: 95%) group.
  
  
  CONCLUSIONS
  Findings of this current study indicate a different LOXL1 gene expression pattern compared with a recent study that was also performed in the Turkish population. Other gene replication studies are required to accurately assess genetic factors in the pathogenesis of PEX syndrome and glaucoma.
authors.affiliation: *Department of Ophthalmology, Hiti University School of Medicine, Corum Departments of †Medical Genetics ‡Ophthalmology, Ankara Numune Education and Research Hospital, Ankara, Turkey.
authors.forename: Mahmut
authors.initials: M
authors.lastname: Asfuroglu
authors.forename: Busranur
authors.initials: B
authors.lastname: Cavdarli
authors.forename: Ozlem G
authors.initials: OG
authors.lastname: Koz
authors.forename: Ahmet
authors.initials: A
authors.lastname: A Yarangumeli
authors.forename: Emine Y
authors.initials: EY
authors.lastname: Ozdemir
mesh_terms: D000368:Aged; D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D015870:Gene Expression / Q000502:physiology; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014421:Turkey
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human