Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients.
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.
Caixeta-Umbelino
Cristiano
C
Department of Ophthalmology, Faculty of Medical Sciences, Glaucoma Service, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil.
de Vasconcellos
José Paulo Cabral
JP
Costa
Vital Paulino
VP
Kasahara
Niro
N
Della Paolera
Maurício
M
de Almeida
Geraldo Vicente
GV
Cohen
Ralph
R
Mandia
Carmo
C
Rocha
Mylene Neves
MN
Richeti
Flávio
F
Longui
Carlos Alberto
CA
de Melo
Mônica Barbosa
MB
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*
D018797:Cell Cycle Proteins; D017931:DNA Primers; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA