Molecular vision · 2003
The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study.
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Forsman Eva, Lemmelä Susanna, Varilo Teppo, Kristo Paula, Forsius Henrik, Sankila Eeva-Marja, Järvelä Irma
Аннотация
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 2 had other types of glaucoma. Of the first degree relatives, 22 out 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: Our results give evidence that novel, unidentified genes will underlie POAG and exfoliation syndrome in the Finnish population.
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 2 had other types of glaucoma. Of the first degree relatives, 22 out 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: Our results give evidence that novel, unidentified genes will underlie POAG and exfoliation syndrome in the Finnish population.
Предметные рубрики MeSH
AdultAgedAged, 80 and overCell Cycle ProteinsCytoskeletal ProteinsExfoliation SyndromeEye ProteinsFemaleFinlandGlaucoma, Open-AngleGlycoproteinsHumansIntraocular PressureMaleMembrane Transport ProteinsMiddle AgedMolecular BiologyMutationNerve Tissue ProteinsOcular HypertensionPedigreePolymerase Chain ReactionPolymorphism, GeneticTranscription Factor TFIIIAMyocilin