Association of POAG risk factors and the Thr377met MYOC mutation in an isolated greek population

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 6, 2010, Pages 3055-3060

  Wirtz, Mary K ^a   Samples, John R ^a   Toumanidou, Victoria ^b   Charlesworth, Jac ^c   Mikropoulos, Dimitrios G ^b   Kaltsos, Konstantinos ^b   Economou, Athanasios ^b   Dimopoulos, Antonios ^b   Georgiadou, Irene N ^b   Moumtzis, Georgios ^b   Papanastasiou, Athanasios ^b   Kramer, Patricia L ^d   Dyer, Tom ^c   Blangero, John ^c   Konstas, Anastasios G P ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b AHEPA UNIVERSITY HOSPITAL   (Greece)

^c SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYOCILIN; CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; CORNEA THICKNESS; EXON; EYE EXAMINATION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GREECE; HUMAN; INCIDENCE; INHERITANCE; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; MALE; MYOCILIN GENE; ONSET AGE; OPEN ANGLE GLAUCOMA; PEDIGREE; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD; CAUCASIAN; GENETICS; GENOTYPE; MIDDLE AGED; PHENOTYPE; POINT MUTATION; RURAL POPULATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CYTOSKELETAL PROTEINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; EYE PROTEINS; FEMALE; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; GREECE; HUMANS; INCIDENCE; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; RISK FACTORS; RURAL POPULATION;

EID: 77953274618     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4652     Document Type: Article

References (37)

1. Leske MC. Open-angle glaucoma: an epidemiologic overview. Ophthalmic Epidemiol. 2007;14:166-172.
2. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267.
3. Foster PJ, Buhrmann R, Quigley HA, Johnson GJ. The definition and classification of glaucoma in prevalence surveys. Br J Ophthal-mol. 2002;86:238-242.
4. Boland MV, Quigley HA. Risk factors and open-angle glaucoma: classification and application. J Glaucoma. 2007;16:406-418.
5. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
6. Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q. Am J Hum Genet. 1997;60:296-304.
7. Wirtz MK, Samples JR, Rust K, et al. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol. 1999;117:237-241.
8. Wiggs JL, Lynch S, Ynagi G, et al. A genomewide scan identifies novel early-onset primary open-angle glaucoma Loci on 9q22 and 20p12. Am J Hum Genet. 2004;74:1314-1320.
9. Allingham RR, Wiggs JL, Hauser ER, et al. Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthal-mol Vis Sci. 2005;46:2002-2005.
10. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002; 295:1077-1079.
11. Sarfarazi M, Child A, Stoilova D, et al. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet. 1998;62:641-652.
12. Hewitt AW, Samples JR, Allingham RR, et al. Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds. Mol Vis. 2007;13:487-492.
13. Petersen MB, Kitsos G, Samples JR, et al. A large GLC1C Greek family with a myocilin T377M mutation: inheritance and pheno-typic variability. Invest Ophthalmol Vis Sci. 2006;47:620-625.
14. Wirtz MK, Konstas AG, Samples JR, et al. Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village. Mol Vis. 2008;14:774-781.
15. Wirtz MK, Samples JR, Choi D, Gaudette ND. Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. Am J Ophthalmol. 2007;144: 75-80.
16. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet. 1998;62:1198-1211.
17. Hopper JL, Mathews JD. Extensions to multivariate normal models for pedigree analysis. Ann Hum Genet. 1982;46:373-383.
18. Puska P, Lemmela S, Kristo P, Sankila EM, Jarvela I. Penetrance and phenotype of the Thr377Met myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. Ophthalmic Genet. 2005;26:17-23.
19. Mackey DA, Healey DL, Fingert JH, et al. Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Arch Ophthal-mol. 2003;121:1172-1180.
20. Klein BE, Klein R, Sponsel WE, et al. Prevalence of glaucoma: the Beaver Dam Eye Study. Ophthalmology. 1992;99:1499-1504.
21. Tielsch JM, Sommer A, Katz J, Royall RM, Quigley HA, Javitt J. Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. Jama. 1991;266:369-374.
22. Mitchell P, Smith W, Attebo K, Healey PR. Prevalence of open-angle glaucoma in Australia. The Blue Mountains Eye Study. Ophthalmology. 1996;103:1661-1669.
23. Wensor, McCarty CA, Stanislavsky YL, Livingston PM, Taylor HR. The prevalence of glaucoma in the Melbourne Visual Impairment Project. Ophthalmology. 1998;105:733-739.
24. Wolfs RC, Borger PH, Ramrattan RS, et al. Changing views on open-angle glaucoma: definitions and prevalences: The Rotterdam Study. Invest Ophthalmol Vis Sci. 2000;41:3309-3321.
25. Friedman DS, Wolfs RC, O'Colmain BJ, et al. Prevalence of open-angle glaucoma among adults in the United States. Arch Ophthal-mol. 2004;122:532-538.
26. Topouzis F, Wilson MR, Harris A, et al. Prevalence of open-angle glaucoma in Greece: The Thessaloniki Eye Study. Am J Ophthal-mol. 2007;144:511-519.
27. Alward WL, 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.
28. Tielsch JM, Katz J, Sommer A, Quigley HA, Javitt JC. Hypertension, perfusion pressure, and primary open-angle glaucoma: a population-based assessment. Arch Ophthalmol. 1995;113:216-221.
29. Dielemans I, Vingerling JR, Algra D, Hofman A, Grobbee DE, de Jong PT. Primary open-angle glaucoma, intraocular pressure, and systemic blood pressure in the general elderly population. The Rotterdam Study. Ophthalmology. 1995;102:54-60.
30. Bulpitt CJ, Hodes C, Everitt MG. Intraocular pressure and systemic blood pressure in the elderly. Br J Ophthalmol. 1975;59:717-720.
31. Gordon MO, Beiser JA, Brandt JD, et al. The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma. Arch Ophthalmol. 2002;120:714-720, discussion 829-730.
32. Varma R, Tielsch JM, Quigley HA, et al. Race-, age-, gender-, and refractive error-related differences in the normal optic disc. Arch Ophthalmol. 1994;112:1068-1076.
33. Healey PR, Mitchell P, Smith W, Wang JJ. The influence of age and intraocular pressure on the optic cup in a normal population. J Glaucoma. 1997;6:274-278.
34. Jonas JB, Grundler A. Effect of arterial hypertension on the optic disc structure. Arch Ophthalmol. 1996;114:1300-1301.
35. Amerasinghe N, Wong TY, Wong WL, et al. Determinants of the optic cup to disc ratio in an Asian population: the Singapore Malay Eye Study (SiMES). Arch Ophthalmol. 2008;126:1101-1108.
36. Aghaian E, Choe JE, Lin S, Stamper RL. Central corneal thickness of Caucasians, Chinese, Hispanics, Filipinos, African Americans, and Japanese in a glaucoma clinic. Ophthalmology. 2004;111:2211-2219.
37. Brandt JD, Gordon MO, Beiser JA, Lin SC, Alexander MY, Kass MA. Changes in central corneal thickness over time: the ocular hypertension treatment study. Ophthalmology. 2008;115:1550-1556, 1556 e1551.