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Abstract #24379 Published in IGR 11-3
Lack of association between optineurin gene variants T34T, E50K, M98K, 691-692insAG and R545Q and primary open angle glaucoma in Brazilian patients
Caixeta-Umbelino C; De Vasconcellos JPC; Costa VP; Kasahara N; Paolera MD; de Almeida GV; Cohen R; Mandia Jr C; Rocha MN; Richeti FOphthalmic Genetics 2009; 30: 13-18
PURPOSE: 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. Patients and 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. CONCLUSION: Our data show no association between the five evaluated variants and POAG in the Brazilian population.
Dr. M.B. De Melo, Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas - UNICAMP, P.O.Box: 6010, Campinas, SP, 13083-875, Brazil. melomb@uol.com.br
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
