Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma

Investigative Ophthalmology and Visual Science

Volumn 46, Issue 4, 2005, Pages 1303-1306

  Aung, Tin ^a,b,c   Yong, Victor H K ^b   Chew, Paul T K ^a,c   Seah, Steve K L ^a   Gazzard, Gus ^a,d   Foster, Paul J ^a,d   Vithana, Eranga N ^b  

^a SINGAPORE NATIONAL EYE CENTRE   (Singapore)

^b SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^c NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GENOMIC DNA; ISOLEUCINE; MYOCILIN; THREONINE; CYTOSKELETON PROTEIN; DNA; EYE PROTEIN; GLYCOPROTEIN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CHRONIC DISEASE; COHORT ANALYSIS; CONTROLLED STUDY; DNA EXTRACTION; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GLAUCOMA; HUMAN; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYOC GENE; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIMARY ANGLE CLOSURE GLAUCOMA; PRIORITY JOURNAL; ASIAN; CLOSED ANGLE GLAUCOMA; ETHNOLOGY; GENETICS; ISOLATION AND PURIFICATION; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION; POLYMERASE CHAIN REACTION; SINGAPORE;

AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CHRONIC DISEASE; CYTOSKELETAL PROTEINS; DNA; EYE PROTEINS; FEMALE; GLAUCOMA, ANGLE-CLOSURE; GLYCOPROTEINS; HUMANS; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION; POLYMERASE CHAIN REACTION; SINGAPORE;

EID: 18244369509     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-1163     Document Type: Article

References (48)

1. Thylefors B, Negrel AD, Pararajasegaram R, Dadzie KY. Global data on blindness. Bull World Health Org. 1995;73:115-121.
2. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol. 1996;80:389-393.
3. Hu Z, Zhao ZL, Dong FT. An epidemiological investigation of glaucoma in Beijing and Shun-Yi County. Chin J Ophthalmol. 1989;25:115-118.
4. Foster PJ, Johnson GJ. Glaucoma in China: how big is the problem? Br J Ophthalmol. 2001;85:1277-1282.
5. Tielsch JM, Sommer A, Katz J, Royall RM, Quigley HA, Javitt J. Racial variations in prevalence of primary open angle glaucoma. JAMA. 1991;266:369-374.
6. Klein BE, Klein R, Sponsel WE, et al. Prevalence of glaucoma. The Beaver Dam Eye Study. Ophthalmology. 1992;99:1499-1504.
7. Congdon N, Wang F, Tielsch JM. Issues in the epidemiology and population based screening of primary angle-closure glaucoma. Surv Ophthalmol. 1992;36:411-423.
8. Foster PJ, Baasanhu J, Alsbirk PH, Munkhbayar D, Uranchimeg D, Johnson GJ. Glaucoma in Mongolia: a population-based survey in Hovsgol Province, Northern Mongolia. Arch Ophthalmol. 1996;114:1235-1241.
9. Foster PJ, Oen FT, Machin D, et al. The prevalence of glaucoma in Chinese residents of Singapore: a cross-sectional population survey of the Tanjong Pagar district. Arch Ophthalmol. 2000;118:1105-1111.
10. Dandona L, Dandona R, Mandal P, et al. Angle closure glaucoma in an urban population in Southern India. The Andhra Pradesh Eye Disease Study. Ophthalmology. 2000;107:1710-1716.
11. Jacob A, Thomas R, Koshi SP, Braganza A, Muliyil J. Prevalence of primary glaucoma in an urban south Indian population. Indian J Ophthalmol. 1998;46:81-86.
12. Quigley HA, Congdon NG, Friedman DG. Glaucoma in China (and worldwide): changes in established thinking will decrease preventable blindness. Br J Ophthalmol. 2001;85:1271-1272.
13. Wolfs RC, Klaver CC, Ramrattan RS, van Duijn CM, Hofman A, de Jong PT. Genetic risk of primary open-angle glaucoma. Arch Ophthalmol. 1998;116:1640-1645.
14. 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;3:135-141.
15. Nemesure B, He Q, Mendell N, et al. Barbados Family Study Group. Inheritance of open-angle glaucoma in the Barbados family study. Am J Med Genet. 2001;103:36-43.
16. McNaught AI, Allen JG, Healey DL, et al. Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania. Arch Ophthalmol. 2000;118:900-904.
17. Craig JE, Mackey DA. Glaucoma genetics: where are we? Where will we go? Curr Opin Ophthalmol. 1999;10:126-134.
18. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079.
19. Sheffield VC, Stone EM, Alward WI, et al. Genetic linkage of open angle familial glaucoma to chromosome 1q21-q31. Nat Genetics. 1993;4:47-50.
20. Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
21. Suzuki Y, Shirato S, Taniguchi F, et al. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet. 1997;61:1202-1204.
22. Alward WLM, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open angle glaucoma gene (GLC1A). N Engl J Med. 1998;338:1022-1027.
23. Wiggs JL, Allingham RR, Vollrath D, et al. Prevalence of mutations in TIGR/myocilin in patients with adult and juvenile primary open angle glaucoma. Am J Hum Genet. 1998;63:1549-1552.
24. Alward WI, Kwon YH, Khanna CL, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol. 2002;120:1189-1197.
25. Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999;8:899-905.
26. Adam MF, Belmouden A, Binisti P, et al. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Gen. 1997;12:2091-2097.
27. Ortego J, Escribano J, Coca-Prados M. Cloning and characterization of subtracted cDNAs from human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin. FEBS Lett. 1997;413:349-353.
28. Tamm E, Russell P, Epstein DL, Johnson DH, Piatigorsky J. Modulation of myocilin/TIGR expression in human trabecular meshwork. Invest Ophthalmol Vis Sci 1999;40:2577-2582.
29. Swiderski RE, Ying L, Cassell MD, Alward WL, Stone EM, Sheffield VC. Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Res Mol Brain Res. 1999;68:64-72.
30. Jacobson N, Andrews M, Shepard AR, et al. Non secretion of mutant proteins of the glaucoma gene, myocilin in cultured trabecular meshwork cells and in aqueous humour. Hum Mol Genet. 2001;10:117-125.
31. Gazzard G, Foster PJ, Devereux JG, et al. Intraocular pressure and visual field loss in primary angle closure and primary open angle glaucomas. Br J Ophthalmol. 2003;87:720-725.
32. Sihota R, Lakshmaiah NC, Walia KB, Sharma S, Pailoor J, Agarwal HC. The trabecular meshwork in acute and chronic angle closure glaucoma. Indian J Ophthalmol. 2001;49:255-259.
33. Faucher M, Anctil JL, Rodrigue MA, et al. Founder TIGR/MYOC mutations for glaucoma in the Quebec population. Hum Mol Genet. 2002;11:2077-90.
34. Vincent AL, Billingsley G, Buys Y, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 2002;70:448-460.
35. Lam DSC, Leung YF, Chua JKH, et al. Truncations in the TIGR gene in Individuals with and without primary open angle glaucoma. Invest Ophthalmol Vis Sci. 2000;41:1386-1391.
36. Yoon SJK, Kim HS, Moon JI, Lim JM, Joo CK. Mutations of the TIGR/MYOC gene in primary open angle glaucoma in Korea. Am J Hum Genet. 1999;64:1775-1778.
37. Pang CP, Leung YF, Fan B, et al. TIGR/MYOC gene sequence alterations in individuals with and without primary open angle glaucoma. Invest Ophthalmol Vis Sci. 2002;43:3231-3235.
38. Mabuchi F, Yamagata Z, Kashiwagi K, Tang S, Lijima H, Tsukahara S. Analysis of myocilin gene in Japanese patients with normal tension glaucoma and primary angle glaucoma. Clin Genet. 2001;59:263-268.
39. Lütjen-Drecoll E, Rohen JW. Morphology of aqueous outflow pathways in normal and glaucomatous eyes. In: Ritch R, Shields MB, Krupin T, eds. The Glaucomas. Vol. 1. Mosby; 1996:89-123.
40. Kawai SI, Vora S, Das S, et al. Modeling of risk factors for the degeneration of retinal ganglion cells after ischemia/reperfusion in rats: effects of age, caloric restriction, diabetes, pigmentation, and glaucoma. FASEB J. 2001;15:1285-1287.
41. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet. 2004;13:R91-R102.
42. Ricard CS, Agapova OA, Salvador-Silva M, Kaufman PL, Hernandez MR. Expression of myocilin/TIGR in normal and glaucomatous primate optic nerves. Exp Eye Res. 2001;73:433-447.
43. Karali A, Russell P, Stefani FH, Tamm ER. Localization of myocilin/ trabecular meshwork inducible glucocorticoid response protein in the human eye. Invest Ophthalmol Vis Sci. 2000;41:729-740.
44. Noda S, Mashima Y, Obazawa M, et al. Myocilin expression in the astrocytes of the optic nerve head. Biochem Biophys Res Comm. 2000;276:1129-1135.
45. Clark AF, Kawase K, English-Wright S, et al. Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head. FASEB J. 2001;15:1251-1253.
46. Kim BS, Savinova OV, Reedy MV, et al. Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma causing mutations are gain of function. Mol Cell Biol. 2001;21:7707-7713.
47. Wiggs JL, Vollrath D. Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Arch Ophthalmol. 2001;119:1674-1678.
48. Törnquist R. Shallow anterior chamber in acute angle-closure: a clinical and genetic study. Acta Ophthalmol. 1953;31(suppl 39):1-74.