title: Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma.
abstract: OBJECTIVE
  Single nucleotide polymorphisms (SNPs) rs1048661 (p.R141L) and rs3825942 (p.G153D) in the lysyl oxidase-like 1 (LOXL1) gene have been previously reported to be associated with pseudoexfoliation glaucoma (PEXG) in various Asian and European populations, but these SNPs have not yet been studied in the Pakistani population. Therefore the aim of the present study was to investigate the association of these two coding LOXL1 SNPs in Pakistani PEXG patients.
  
  
  METHODS
  One hundred twenty-eight Pakistani patients diagnosed with PEXG and 180 healthy controls were recruited for the study. Genomic DNA was extracted and both SNPs were genotyped by direct sequencing. Association of genotype and allele frequencies with PEXG were analyzed using the Chi-square (χ(2)) test.
  
  
  RESULTS
  Genotype and allele frequencies of both rs1048661 and rs3825942 were found to be significantly associated with PEXG. The GG genotypes of both LOXL1 SNPs were associated with an increased risk of developing PEXG. In addition the G alleles of rs1048661 and rs3825942 confer an increased risk for PEXG with an odds ratio (OR) of 2.98 (95% CI 1.94-4.57) and OR 6.83 (95% CI 2.94-16.67), respectively.
  
  
  CONCLUSIONS
  A significant association was found for the G allele of rs1048661 and rs3825942 in PEXG patients of Pakistani origin.
authors.affiliation: Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.
authors.forename: Shazia
authors.initials: S
authors.lastname: Micheal
authors.forename: Muhammad Imran
authors.initials: MI
authors.lastname: Khan
authors.forename: Farah
authors.initials: F
authors.lastname: Akhtar
authors.forename: Mahmood
authors.initials: M
authors.lastname: Ali
authors.forename: Asifa
authors.initials: A
authors.lastname: Ahmed
authors.forename: Anneke I
authors.initials: AI
authors.lastname: den Hollander
authors.forename: Raheel
authors.initials: R
authors.lastname: Qamar
mesh_terms: D000328:Adult; D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005901:Glaucoma / Q000150:complications / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010154:Pakistan; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human