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Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients.

Authors: Caixeta-Umbelino, C  De Vasconcellos, JP  Costa, VP  Kasahara, N  Della Paolera, M  De Almeida, GV  Cohen, R  Mandia C, JR  Rocha, MN  Richeti, F  Longui, CA  De Melo, MB 
Citation: Caixeta-Umbelino C, etal., Ophthalmic Genet. 2009 Mar;30(1):13-8. doi: 10.1080/13816810802502970.
Pubmed: (View Article at PubMed) PMID:19172505
DOI: Full-text: DOI:10.1080/13816810802502970

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.

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CRRD Object Information
CRRD ID: 7775049
Created: 2013-12-31
Species: All species
Last Modified: 2013-12-31
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.