Lack of Association Between Optineurin Gene Variants T34T, E50K, M98K, 691_692insAG and R545Q and Primary Open Angle Glaucoma in Brazilian Patients

Autor(es):Mostrar menos -

Caixeta-Umbelino, Cristiano ^[1] ; Cabral de Vasconcellos, Jose Paulo ^[2] ; Costa, Vital Paulino ^[2] ; Kasahara, Niro ^[1] ; Paolera, Mauricio Della ^[1] ; de Almeida, Geraldo Vicente ^[1] ; Cohen, Ralph ^[1] ; Mandia, Jr., Carmo ^[1] ; Rocha, Mylene Neves ^[3] ; Richeti, Flavio ^[3] ; Longui, Carlos Alberto ^[3] ; de Melo, Monica Barbosa ^[4]

Afiliação do(s) autor(es)

^[1] Fac Med Sci, Dept Ophthalmol, Glaucoma Serv, Sao Paulo - Brazil

^[2] Univ Estadual Campinas, Fac Med Sci, Glaucoma Serv, Dept Ophthalmol, BR-13083875 Campinas, SP - Brazil

^[3] Fac Med Sci, Dept Physiol, Mol Med Lab, Sao Paulo - Brazil

^[4] Univ Estadual Campinas, Ctr Mol Biol & Genet Engn, Lab Human Mol Genet, BR-13083875 Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: OPHTHALMIC GENETICS; v. 30, n. 1, p. 13-18, 2009.
• Citações Web of Science: 17

Resumo

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. (AU)

• Processo FAPESP: 02/11575-0 - Identificação de genes associados ao glaucoma primário de ângulo aberto
• Beneficiário: José Paulo Cabral de Vasconcellos
• Modalidade de apoio: Auxílio à Pesquisa - Jovens Pesquisadores