title: The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study.
abstract: OBJECTIVE
  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.
authors.affiliation: Population Genetics Unit, Folkhalsan Institute of Genetics, Helsinki, Finland.
authors.forename: Eva
authors.initials: E
authors.lastname: Forsman
authors.forename: Susanna
authors.initials: S
authors.lastname: Lemmelä
authors.forename: Teppo
authors.initials: T
authors.lastname: Varilo
authors.forename: Paula
authors.initials: P
authors.lastname: Kristo
authors.forename: Henrik
authors.initials: H
authors.lastname: Forsius
authors.forename: Eeva-Marja
authors.initials: EM
authors.lastname: Sankila
authors.forename: Irma
authors.initials: I
authors.lastname: Järvelä
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D017889:Exfoliation Syndrome / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005387:Finland; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D008967:Molecular Biology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009798:Ocular Hypertension / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D035582:Transcription Factor TFIIIA; D000099179:Myocilin
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human