title: [Genetic ground of primary open angle glaucoma].
abstract: Among basic risk factors for primary open-angle glaucoma (POAG), the leading place takes positive family history. It is generally accepted that this type of glaucoma presents multifactored determination, however pedigrees that follow autosomal dominant way of inheritance are also described. Genetic studies made by linkage analysis enabled to map six loci, linked to development of primary open-angle glaucoma: GLC1A - in 1q21-q31 region, GLC1B - in 2cen-q13 region, GLC1C- in 3q14-q24 region, GLC1D - in 8q23 region, GLC1E- in 10p15-p14 region and GLC1F - in 7q35-q36 region. During last years, in GLC1A locus the TIGR gene that codes for myocilin was cloned and in GLC1E locus the OPTN gene that codes for optineurin was cloned. It was also proved that their mutations are responsible for development of several forms of POAG. Simultaneously it was shown that there are some additional modifier genes, such as CYP1B1 gene, mapped in 2p22-p21 region and coding one of the cytochrome P450 polypeptide, what indicates a possibility of digenic inheritance of POAG.
authors.affiliation: Z Pracowni Poradnictwa Genetycznego w Chorobach Narzadu Wzroku Katedry i Zakładu Genetyki Medycznej Akademii Medycznej w Poznaniu.
authors.forename: Maciej R
authors.initials: MR
authors.lastname: Krawczyński
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases; D018797:Cell Cycle Proteins; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics / Q000378:metabolism; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism; D008040:Genetic Linkage / Q000235:genetics; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA / Q000235:genetics / Q000378:metabolism; D000099179:Myocilin
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D018797:Cell Cycle Proteins; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human; C585496:CYP1B1 protein, human