title: Analysis of LOXL1 single nucleotide polymorphisms in Polish population with pseudoexfoliation syndrome.
abstract: OBJECTIVE
  To assess the possible association of lysyl oxidase-like 1 (LOXL1) gene variants with pseudoexfoliation syndrome (PEX) in Polish population.
  
  
  METHODS
  The group studied comprised of 36 patients with PEX (men and women) who presented to Department of Ophthalmology Collegium Medicum UMK in Bydgoszcz, Poland, and 30 control subjects. Blood samples were obtained from each patient via peripheral venipuncture, and genomic DNA was isolated according to the standard procedures. Three LOXL1 single nucleotide polymorphisms (SNPs) rs1048661 (R141L), rs3825942 (G153D) and rs216524 were genotyped in patient sample.
  
  
  RESULTS
  The significant association with PEX was found for the G allele of rs3825942 (p = 0.0047) and for the T allele of rs216541 (p = 0.021). The haplotype (GGT) consisting of all three risk alleles was significantly overrepresented (87.5%) in patients with PEX.
  
  
  CONCLUSIONS
  Single nucleotide polymorphisms in LOXL1 are associated with PEX in Polish population which confirms the association previously reported for Icelandic, Swedish, Indian and other populations.
authors.affiliation: Department of Ophthalmology, The Nicolaus Copernicus University, Ludwik Rydygier's Collegium Medicum, Bydgoszcz, Poland. malukiewicz@wp.pl
authors.forename: Grażyna
authors.initials: G
authors.lastname: Malukiewicz
authors.forename: Hanna
authors.initials: H
authors.lastname: Lesiewska-Junk
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Linkowska
authors.forename: Marta
authors.initials: M
authors.lastname: Mielnik
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grzybowski
authors.forename: Natalia
authors.initials: N
authors.lastname: Sulima
mesh_terms: D000368:Aged; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D008297:Male; D009798:Ocular Hypertension / Q000235:genetics; D011044:Poland / Q000208:ethnology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human