Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype

Clinical and Experimental Ophthalmology

Volumn 37, Issue 2, 2009, Pages 201-207

  Sherwin, Justin C ^a   Hewitt, Alex W ^a,b   Bennett, Sonya L ^a   Baird, Paul N ^a   Craig, Jamie E ^b   Mackey, David A ^a,c  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b FLINDERS UNIVERSITY   (Australia)

^c UNIVERSITY OF TASMANIA   (Australia)

Author keywords

Glaucoma; Openangle glaucoma; Qenetic disease

Indexed keywords

GENE PRODUCT; GLUTAMINE; MYOCILIN; PROTEIN GLC1L; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUSTRALIA; CHROMOSOME; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; FAMILY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HAPLOTYPE; HUMAN; INTRAOCULAR PRESSURE; OPEN ANGLE GLAUCOMA; PEDIGREE; PHENOTYPE;

ADULT; AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, PAIR 3; CYTOSKELETAL PROTEINS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 65449175272     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/j.1442-9071.2009.02002.x     Document Type: Article

References (29)

1. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80: 389-93.
2. Weinreb RN, Khaw PT. Primary open-angle glaucoma. Lancet 2004; 363: 1711-20.
3. OMIM. Online Mendelian Inheritance in Man. Available from: http:// www.ncbi.nlm.nih.gov/omim
4. Monemi S, Spaeth G, DaSilva A et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14: 725-33.
5. Rezaie T, Child A, Hitchings R et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002; 295: 1077-9.
6. Stone EM, Fingert JH, Alward WL et al. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275: 668-70.
7. Hewitt AW, Craig JE, Mackey DA. Complex genetics of complex traits: The case of primary open-angle glaucoma. Clin Exp Ophthalmol 2006; 34: 472-84.
8. Hewitt AW, Mackey DA, Craig JE. Myocilin allele-specific glaucoma phenotype database. Hum Mutat 2008; 29: 207-11.
9. Petersen MB, Kitsos G, Samples JR et al. A large GLC1C Greek family with a myocilin T377M mutation: Inheritance and phenotypic variability. Invest Ophthalmol Vis Sci 2006; 47: 620-5.
10. Mardin CY, Velten I, Ozbey S, Rautenstrauss B, Michels-Rautenstrauss KA. GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma. J Glaucoma 1999; 8: 154-6.
11. 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.
12. Craig JE, Baird PN, Healey DL et al. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. Ophthalmology 2001; 108: 1607-20.
13. Baird PN, Craig JE, Richardson AJ et al. Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin. Hum Genet 2003; 112: 110-6.
14. Baird PN, Foote SJ, Mackey DA, Craig J, Speed TP, Bureau A. Evidence for a novel glaucoma locus at chromosome 3p21-22. Hum Genet 2005; 117: 249-57.
15. Charlesworth JC, Dyer TD, Stankovich JM et al. Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree. Invest Ophthalmol Vis Sci 2005; 46: 3723-9.
16. Mackey DA, Healey DL, Fingert JH, et al. Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation. Arch Ophthalmol 2003; 121: 1172-80.
17. 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: 142-50.
18. Liu T, He XG. Meta-analysis on the association of Myocilin Q368X mutation and primary open angle glaucoma. Zhonghua Yan Ke Za Zhi 2007; 43: 361-6.
19. Hewitt AW, Bennett SL, Fingert JH et al. The optic nerve head in myocilin glaucoma. Invest Ophthalmol Vis Sci 2007; 48: 238-43.
20. Bennett SL, Hewitt AW, Poulsen JL et al. Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees. Arch Ophthalmol 2007; 125: 112-6.
21. Hewitt AW, Bennett SL, Dimasi DP, Craig JE, Mackey DA. A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases. Am J Ophthalmol 2006; 141: 402-3.
22. 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: 448-60.
23. Chang B, Smith RS, Hawes NL et al. Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet 1999; 21: 405-9.
24. Libby RT, Gould DB, Anderson MG, John SW. Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet 2005; 6: 15-44.
25. Duggal P, Klein AP, Lee KE, et al. A genetic contribution to intraocular pressure: The beaver dam eye study. Invest Ophthalmol Vis Sci 2005; 46: 555-60.
26. Duggal P, Klein AP, Lee KE, Klein R, Klein BE, Bailey-Wilson JE. Identification of novel genetic loci for intraocular pressure: A genomewide scan of the Beaver Dam Eye Study. Arch Ophthalmol 2007; 125: 74-9.
27. Nemesure B, Jiao X, He Q et al. A genome-wide scan for primary open-angle glaucoma (POAG): The Barbados Family Study of Open-Angle Glaucoma. Hum Genet 2003; 112: 600-9.
28. Lemmela S, Ylisaukko-oja T, Forsman E, Jarvela I. Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families. Mol Vis 2004; 10: 260-4.
29. Hulsman CA, Willemse-Assink JJ, de Jong PT, Lettink M, Sandkuijl LA, Bergen AA. Exclusion of candidate gene loci for adult onset primary open-angle glaucoma in a genetically isolated population. Clin Genet 2002; 61: 160-2.