The role of TIGR and OPTN in Finnish glaucoma families: A clinical and molecular genetic study

Molecular Vision

Volumn 9, Issue , 2003, Pages 217-222

  Forsman, Eva ^a   Lemmelä, Susanna ^b   Varilo, Teppo ^c   Kristo, Paulo ^b   Forsius, Henrik ^a   Sankila, Eeva Marja ^b   Järvelä, Irma ^b,d  

^a FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; MYOCILIN; OPTINEURIN; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; NERVE PROTEIN; OPTN PROTEIN, HUMAN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN; TRANSCRIPTION FACTOR IIIA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; EXFOLIATION SYNDROME; FAMILY HISTORY; FINLAND; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENEALOGY; GENETIC ANALYSIS; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; INTRAOCULAR PRESSURE ABNORMALITY; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; OPEN ANGLE GLAUCOMA; OPHTHALMOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIMARY GLAUCOMA; PROMOTER REGION; RISK FACTOR; VISUAL SYSTEM EXAMINATION; ADULT; AGED; FEMALE; GENETICS; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION; PEDIGREE;

ADULT; AGED; AGED, 80 AND OVER; CYTOSKELETAL PROTEINS; EXFOLIATION SYNDROME; EYE PROTEINS; FEMALE; FINLAND; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION; NERVE TISSUE PROTEINS; OCULAR HYPERTENSION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; TRANSCRIPTION FACTOR TFIIIA;

EID: 0037733995     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Tielsch JM, Katz J, Sommer A, Quigley HA, Javitt JC. Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey. Arch Ophthlamol 1994; 112:69-73.
2. Nemesure B, Leske MC, He Q, Mendell N. Analyses of reported family history of glaucoma: a preliminary investigation. The Barbados Eye Study Group. Ophthalmic Epidemiol 1996; 3:135-41.
3. Wolfs RC, Klaver CC, Ramrattan RS, van Duijin CM, Hofman A, de Jong PT. Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Arch Ophthalmol 1998; 116:1640-5.
4. Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 1993; 4:47-50.
5. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-70.
6. Allingham RR, Wiggs JL, De La Paz MA, Vollrath D, Tallett DA, Broomer B, Jones KH, Del Bono EA, Kern J, Patterson K, Haines JL, Pericak-Vance MA. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998; 39:2288-95.
7. Fingert JH, Heon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, Hockey RR, Williams-Lyn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WL, Sheffield VC, Stone EM. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8:899-905.
8. Angius A, Spinelli P, Ghilotti G, Casu G, Sole G, Loi A, Totaro A, Zelante L, Gasparini P, Orzalesi N, Pirastu M, Bonomi L. Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma. Arch Ophthalmol 2000; 118:674-9.
9. Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295:1077-9.
10. Wiggs JL, Allingham RR, Hossain A, Kern J, Auguste J, DelBono EA, Broomer B, Graham FL, Hauser M, Pericak-Vance M, Haines JL. Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet 2000; 9:1109-17.
11. Aasved H. Study of relatives of persons with fibrillopathia epitheliocapsularis (pseudoexfoliation of the lens capsule). Acta Ophthalmol (Copenh) 1975; 53:879-86.
12. Forsius H. Exfoliation syndrome in various ethnic populations. Acta Ophthalmol Suppl 1988; 184:71-85.
13. Allingham RR, Loftsdottir M, Gottfredsdottir MS, Thorgeirsson E, Jonasson F, Sverisson T, Hodge WG, Damji KF, Stefansson E. Pseudoexfoliation syndrome in Icelandic families. Br J Ophthalmol 2001; 85:702-7.
14. Orr AC, Robitaille JM, Price PA, Hamilton JR, Falvey DM, De Saint-Sardos AG, Pasternak S, Guernsey DL. Exfoliation syndrome: clinical and genetic features. Ophthalmic Genet 2001; 22:171-85.
15. Tarkkanen AH. Pseudoexfoliation of the lens capsule. Acta Ophthalmol 1962; 71 (Suppl):1-98.
16. Pohjanpelta P, Hurskainen L. Studies on relatives of patients with glaucoma simplex and patients with pseudoexfoliation of the lens capsule. Acta Ophthalmol (Copenh) 1972; 50:255-61.
17. Hodapp E, Parrish RK, Andersson DR. Classification of defects. In: Hodapp E, Parish RK Jr, Anderson DR. Clinical decisions in glaucoma. St. Louis: Mosby; 1993. p. 52-61.
18. Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Jarvela I. The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet 1996; 58:506-12.
19. Tuck MW, Crick RP. The age distribution of primary open angle glaucoma. Ophthalmic Epidimiol 1998; 5:173-83.
20. Michels-Rautenstrauss KG, Mardin CY, Budde WM, Liehr T, Polansky J, Nguyen T, Timmerman V, Van Broeckhoven C, Naumann GO, Pfeiffer RA, Rautenstrauss BW. Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. Hum Genet 1998; 102:103-6.
21. Suzuki Y, Shirato S, Taniguchi F, Ohara K, Nishimaki K, Ohta S. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet 1997; 61:1202-4.
22. Adam MF, Belmouden A, Binisti P, Brezin AP, Valtot F, Bechetoille A, Dascotte JC, Copin B, Gomez L, Chaventre A, Bach JF, Garchon HJ. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet 1997; 6:2091-7.
23. Nguyen TD, Chen P, Huang WD, Chen H, Johnson D, Polansky JR. Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem 1998; 273:6341-50.
24. Snyder DA, Rivers AM, Yokoe H, Menco BR, Anholt RR. Olfactomedin: purification, characterization, and localization of a novel olfactory glycoprotein. Biochemistry 1991; 30:9143-53.
25. Alward WL, Fingert JH, Coote MA, Johnson AT, Lerner SF, Junqua D, Durcan FJ, McCartney PJ, Mackey DA, Sheffield VC, Stone EM. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 338:1022-7.
26. Kubota R, Mashima Y, Ohtake Y, Tanino T, Kimura T, Hotta Y, Kanai A, Tokuoka S, Azuma I, Tanihara H, Inatani M, Inoue Y, Kudoh J, Oguchi Y, Shimizu N. Novel mutations in the myocilin gene in Japanese glaucoma patients. Hum Mutat 2000; 16:270.
27. Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam MF, Garchon HJ, Pitts Crick R, Sarfarazi M. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet 1998; 35:989-92.
28. Mabuchi F, Yamagata Z, Kashiwagi K, Tang S, Iijima H, Tsukahara S. Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma. Clin Genet 2001; 59:263-8.
29. Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 2000; 130:165-77.
30. Norio R, Nevanlinna HR, Perheentupa J. Hereditary diseases in Finland; rare flora in rare soil. Ann Clin Res 1973; 5:109-41.
31. Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999; 8:1913-23.
32. Forsius HR, Fellman JO, Eriksson AW. Genetics of exfoliation syndrome (pseudoexfoliation of the lens). New Trends in Ophthalmology 1993; 8:135-9.