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Abstract #8908 Published in IGR 5-2
The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study
Forsman E; Lemmela S; Varilo T; Kristo P; Forsius H; Sankila EM; Jarvela IMolecular Vision 2003; 9: 217-222
PURPOSE: The aim of the present study was to analyze the role of the two primary open-angle glaucoma (POAG) genes, trabecular meshwork-induced glucocorticoid response (TIGR/MYOC) and optineurin (OPTN), in Finnish glaucoma families originating from southern coast of Finland. METHODS: In total, 136 patients were examined to determine their ophthalmological status. Genealogical studies were performed using church records. Direct PCR-sequencing of the coding regions of the TIGR and OPTN genes was performed in 11 subjects. RESULTS: Inheritance resembling autosomal dominant mode was detected in eight families with open-angle glaucoma. Glaucoma was diagnosed in 53 subjects, of them 44 had POAG, 7 had exfoliative glaucoma (EG), and two had other types of glaucoma. Of the first-degree relatives, 22 of 79 (28%) were glaucoma suspects. No mutations in these families were identified. Instead, two polymorphisms in the TIGR gene and three polymorphisms in the OPTN gene, in which one was novel, were found in three phenotypes: POAG, exfoliative glaucoma, and exfoliation syndrome. CONCLUSIONS: These results give evidence that novel, unidentified genes underlie POAG and exfoliation syndrome in the Finnish population.
Dr. E. Forsman, Population Genetics Unit, Folkhalsan Institute of Genetics, Helsinki, Finland
Classification:
1.2 Population genetics (Part of: 1 General aspects)
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
