title: Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome.
abstract: OBJECTIVE
  The aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX) syndrome.
  
  
  METHODS
  Ninety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction.
  
  
  RESULTS
  The G allele of rs1048661 was found in 96.7% in the PEX group as compared to 80.5% of non-PEX alleles (P=19×10(-4); Odds ratio [OR] =5.37; 95% confidence interval [CI] =1.68-17.12). Similarly, the G allele of rs3825942 was found in 72.1% of the PEX group as compared to 41.8% of non-PEX alleles (P=4×10(-5); OR =3.78; 95% CI =1.98-7.23). The T and A allele frequencies of rs1048661 and rs3825942, respectively, were underrepresented in the PEX group patients as compared to non-PEX group.
  
  
  CONCLUSIONS
  Our data confirm previously reported association between LOXL1 polymorphisms and PEX syndrome in a southwestern Greek population. A significant association was found for the G allele of rs1048661 and rs3825942 demonstrating that the GG haplotype is a high-risk factor for the development of PEX syndrome.
authors: Department of Ophthalmology, School of Medicine, University of Patras, Achaia, Greece.
authors: Alexios A
authors: AA
authors: Panoutsopoulos
authors: Protein Chemistry Group, Institute of Molecular Oncology, BSRC "Al Fleming", Vari, Greece.
authors: Vassiliki S
authors: VS
authors: Gartaganis
authors: Department of Ophthalmology, School of Medicine, University of Patras, Achaia, Greece.
authors: Marios P
authors: MP
authors: Giannakopoulos
authors: Department of Otolaryngology, Head and Neck Surgery, University of Patras, Achaia, Greece.
authors: Panos D
authors: PD
authors: Goumas
authors: Department of Microbiology, School of Medicine, University of Patras, Achaia, Greece.
authors: Evangelos D
authors: ED
authors: Anastassiou
authors: Department of Ophthalmology, School of Medicine, University of Patras, Achaia, Greece.
authors: Sotirios P
authors: SP
authors: Gartaganis
keywords: PEX syndrome; exfoliative syndrome; single nucleotide polymorphisms