Myocilin Gln368stop mutation and advanced age as risk factors for late- onset primary open-angle glaucoma

Archives of Ophthalmology

Volumn 118, Issue 5, 2000, Pages 674-679

  Angius, Andrea ^a   Spinelli, Patrizia ^b   Ghilotti, Giuseppe ^b   Casu, Giuseppina ^a   Sole, Gabriella ^c   Loi, Angela ^c   Totaro, Antonio ^d   Zelante, Leopoldo ^d   Gasparini, Paolo ^d   Orzalesi, Nicola ^e   Pirastu, Mario ^a   Bonomi, Luciano ^b  

^a CNR   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c Ist Ric Talassemic Anemie M   (Italy)

^d IRCSS Osp CSS Serv Genet Medica   (Italy)

^e Clinica Oculistica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR;

EID: 19244382595     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.118.5.674     Document Type: Article

References (26)

1. Leske MC. The epidemiology of open-angle glaucoma: a review. Am J Epidemiol. 1983;118:166-191.
2. Bonomi L, Marchini G, Marraffa M, et al. Prevalence of glaucoma and intraocular pressure distribution in a defined population: the Egna-Neumarkt Study. Ophthalmology. 1998;105:209-215.
3. Wolfs RC, Klaver CC, Ramrattan RS, van Duijn CM, Hofman A, de Jong P. Genetic risk of primary open-angle glaucoma: population-based familial aggregation study. Arch Ophthalmol. 1998;116:1640-1645.
4. Sheffield VC, Stone EM, Alward WL, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 1993;4:47-50.
5. Johnson AT, Richards JE, Bohenke M, et al. Clinical phenotype of juvenile-onset primary open angle glaucoma linked to chromosome 1q. Ophthalmology. 1996; 103:808-814.
6. Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
7. Polansky JR, Kurtz RM, Alvarado JA, Weinreb RN, Mitchell MD. Eicosanoid production and glucocorticoid regulatory mechanisms in cultured human trabecular meshwork cells. Prog Clin Biol Res. 1989;312:113-138.
8. Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene. N Engl J Med. 1998; 338:1022-1027.
9. 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 Genet. 1997;6:2091-2097.
10. Angius A, De Gioia E, Loi A, et al. A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. Arch Ophthalmol. 1998;116:793-797.
11. Brezin AP, Adam MF, Belmouden A, et al. Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. Am J Med Genet. 1998;76: 438-445.
12. Richards JE, Ritch R, Lichter PR. et al. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology. 1998;105:1698-1707.
13. Mansergh FC, Kenna PF, Ayuso C, Kiang AS, Humphries P, Farrar GJ. Novel mutations in the TIGR gene in early and late onset open angle glaucoma. Hum Muter. 1998;11:244-251.
14. Morissette J, Clepet C, Moisan S, et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet. 1998;19:319-321.
15. Stoilova D, Child A, Trifan OC, Crick RP, Coakes RL, Sarfarazi M. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics. 1996;36:142-150.
16. Wirtz MK, Samples JR, Kramer PL, et al. Mapping a gene for adult-onset glaucoma to chromosome 3q. Am J Hum Genet. 1997;60:296-304.
17. Trifan OC, Traboulsi El, Stoilova D, et al. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol. 1998; 126:17-28.
18. 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.
19. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet. 1997;6:1667-1677.
20. Brusini P. Clinical use of a new method for visual-field damage classification in glaucoma. Eur J Ophthalmol. 1996;6:402-408.
21. Kocak I, Zulauf M, Bergamin O. Evaluation of the Brusini Glaucoma Staging System for typing and staging of perimetric results. Ophthalmologica. 1998;212: 221-227.
22. Ristaldi MS, Pirastu M, Rosatelli MC, et al. Prenatal diagnosis of β-thalassemia in Mediterranean population by dot blot analysis with DNA amplification and allele specific oligonucleotide probes. Prenat Diagn. 1989;9:629-638.
23. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet. 1993;53:252-263.
24. Schaffer AA, Gupta SK, Shriram K, Cottimgham RW Jr. Avoiding recomputation in linkage analysis. Hum Hered. 1994;44:225-237.
25. Lathrop GM, Laouel JM. Easy calculations of lod scale and genetic risks on a small computer. Am J Hum Genet. 1984;36:460-465.
26. Allingham RR, Wiggs JL, De La Paz MA, et al. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 1998;39:2288-2295.