title: Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population.
abstract: OBJECTIVE
  Pseudoexfoliation syndrome (XFS) is a major risk factor for exfoliation glaucoma (XFG). A significant association exists between XFG and several SNPs in the lysyl oxidase-like 1 (LOXL1) gene. The purpose of this study was to report the results of the first association study between LOXL1 polymorphisms and XFS and/or XFG in a Latin American population.
  
  
  METHODS
  Genotypes of three high-risk SNPs of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed by direct sequencing. A case-control study was conducted with 102 unrelated XFS/XFG Mexican patients (42 XFS/60 XFG) as well as 97 control subjects. Allele frequencies, Hardy-Weinberg equilibrium, and haplotype association analysis were assessed with the Haplo View software.
  
  
  RESULTS
  The T allele of the intronic SNP rs2165241 was more frequent in XFS/XFG patients than in controls (OR [95% CI] = 2.41 [1.59-3.64]; p = 0.00001). The G allele of rs3825942 was found in a higher frequency in XFS/XFG than in controls (100% vs 95% respectively, p = 0.0019). No significant association between XFS and the rs1048661 (R141L) SNP was observed. The TGT haplotype was observed in a higher frequency in patients than in controls (p = 0.025), and produced the highest risk in our study (OR [95% CI] = 3.20 [1.09-9.39]; p = 0.025).
  
  
  CONCLUSIONS
  This is the first study associating LOXL1 gene polymorphism and XFS/XFG in Latin America. LOXL1 variants are associated with an elevated risk for XFS/XFG in the Mexican population. A higher risk was conferred by the T allele of the intronic rs2165241 SNP rather than by the worldwide "high-risk" G allele of rs3825942.
authors.affiliation: Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana" Mexico City, Mexico.
authors.forename: Martha
authors.initials: M
authors.lastname: Jaimes
authors.forename: David
authors.initials: D
authors.lastname: Rivera-Parra
authors.forename: Antonio
authors.initials: A
authors.lastname: Miranda-Duarte
authors.forename: Gerardo
authors.initials: G
authors.lastname: Valdés
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D016022:Case-Control Studies; D005006:Ethnicity / Q000235:genetics*; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D060005:Genotyping Techniques; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D008800:Mexico / Q000208:ethnology; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012307:Risk Factors
chemical_list: D000594:Amino Acid Oxidoreductases; C445313:LOXL1 protein, human