title: Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients.
abstract: OBJECTIVE
  To verify the frequencies of T34T, E50K, M98K, 691_692insAG, and R545Q variants in the optineurin (OPTN) gene in Brazilian subjects with primary open-angle glaucoma (POAG) and controls.
  
  
  METHODS
  Ninety-nine patients with POAG and 100 normal controls were enrolled in this study. The frequency of alterations in the OPTN gene was analyzed by direct sequencing and enzymatic digestion of PCR products.
  
  
  RESULTS
  None of the five alterations evaluated was significantly associated with POAG when compared to controls. However, the T34T silent change was present in greater frequency in POAG patients (37.37% vs. 23.00% in controls), while the R545Q change was more prevalent in controls (23.00% vs. 10.10% in POAG). The M98K and 691_692insAG presented with low frequencies in POAG patients (1.01% and 2.02%, respectively) and controls (2.00% and 2.00%, respectively). The E50K substitution was not observed.
  
  
  CONCLUSIONS
  Our data show no association between the five evaluated variants and POAG in the Brazilian population.
authors.affiliation: Department of Ophthalmology, Faculty of Medical Sciences, Glaucoma Service, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil.
authors.forename: Cristiano
authors.initials: C
authors.lastname: Caixeta-Umbelino
authors.forename: José Paulo Cabral
authors.initials: JP
authors.lastname: de Vasconcellos
authors.forename: Vital Paulino
authors.initials: VP
authors.lastname: Costa
authors.forename: Niro
authors.initials: N
authors.lastname: Kasahara
authors.forename: Maurício
authors.initials: M
authors.lastname: Della Paolera
authors.forename: Geraldo Vicente
authors.initials: GV
authors.lastname: de Almeida
authors.forename: Ralph
authors.initials: R
authors.lastname: Cohen
authors.forename: Carmo
authors.initials: C
authors.lastname: Mandia
authors.forename: Mylene Neves
authors.initials: MN
authors.lastname: Rocha
authors.forename: Flávio
authors.initials: F
authors.lastname: Richeti
authors.forename: Carlos Alberto
authors.initials: CA
authors.lastname: Longui
authors.forename: Mônica Barbosa
authors.initials: MB
authors.lastname: de Melo
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001938:Brazil; D018797:Cell Cycle Proteins; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D035582:Transcription Factor TFIIIA / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D017931:DNA Primers; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA