title: Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India.
abstract: OBJECTIVE
  In the Icelandic and Swedish populations, pseudoexfoliation syndrome (XFS) and pseudoexfoliation glaucoma (XFG) has been significantly associated with LOXL1 exon 1 polymorphisms - allele G of rs1048661 (R141L) and allele G of rs3825942 (G135D). In this study, we looked at the association of rs1048661 and rs3825942 in a southern Indian population.
  
  
  METHODS
  Fifty-two cases with XFS (including XFG) and 97 matched controls that had thorough glaucoma evaluations were included in the study. Exon 1 of the LOXL1 gene with the single nucleotide polymorphisms (SNPs) were amplified and sequenced. For statistical significance, Pearson's Chi(2) test was performed. The HAPLOVIEW program v4.0 was used to determine the Hardy-Weinberg equilibrium and haplotype association.
  
  
  RESULTS
  In our study population, there was a significant association of allele G of rs3825942 with XFS (p=0.0001) and genotype GG (p=0.000305) with XFS.
  
  
  CONCLUSIONS
  Out of the two non-synonymous SNPs in exon 1 of the LOXL1 gene, rs3825942 has a significant association with XFS cases in the patients of the southern Indian population. To the best of our knowledge, this is the first Asian study replicating the European studies.
authors.affiliation: Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.
authors.forename: Vedam Lakshmi
authors.initials: VL
authors.lastname: Ramprasad
authors.forename: Ronnie
authors.initials: R
authors.lastname: George
authors.forename: Nagasamy
authors.initials: N
authors.lastname: Soumittra
authors.forename: Ferdinamarie
authors.initials: F
authors.lastname: Sharmila
authors.forename: Lingam
authors.initials: L
authors.lastname: Vijaya
authors.forename: Govindasamy
authors.initials: G
authors.lastname: Kumaramanickavel
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human