Pharmacogenomics of open-angle glaucoma

Current Pharmacogenomics and Personalized Medicine

Volumn 6, Issue 2, 2008, Pages 121-125

  Schwartz, Stephen G ^a   Ayala Haedo, Juan A ^a   Kishor, Krishna S ^a   Fini, M Elizabeth ^b  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENALIN; ALPHA 1 ADRENERGIC RECEPTOR STIMULATING AGENT; ALPHA ADRENERGIC RECEPTOR STIMULATING AGENT; BETA 1 ADRENERGIC RECEPTOR; BETA 1 ADRENERGIC RECEPTOR BLOCKING AGENT; BETA 2 ADRENERGIC RECEPTOR; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BETAXOLOL; CARBONATE DEHYDRATASE INHIBITOR; CHOLINERGIC RECEPTOR STIMULATING AGENT; CORTICOSTEROID; GLUCOCORTICOID RECEPTOR; LATANOPROST; PILOCARPINE; PROSTAGLANDIN DERIVATIVE; PROSTAGLANDIN F2 ALPHA RECEPTOR; PROSTAGLANDIN RECEPTOR; TIMOLOL; TRAVOPROST; TRIAMCINOLONE ACETONIDE; UNCLASSIFIED DRUG;

BLINDNESS; CLINICAL TRIAL; DRUG EFFECT; DRUG EFFICACY; DRUG RESEARCH; DRUG RESPONSE; GENETIC POLYMORPHISM; GLAUCOMA; HUMAN; HYPERTENSION; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; NONHUMAN; OPEN ANGLE GLAUCOMA; PHARMACOGENETICS; PHARMACOGENOMICS; PILOT STUDY; PROTEIN DETERMINATION; PROTEIN FUNCTION; RETINA DISEASE; RETINA MACULA AGE RELATED DEGENERATION; REVIEW; TREATMENT DURATION;

EID: 56249088466     PISSN: 18756921     EISSN: 18756913     Source Type: Journal    
DOI: 10.2174/1875692110806020121     Document Type: Review

References (53)

1. Abramovitz, M.; Boie, Y.; Nguyen, T.; Rushmore, T. H.; Bayne, M. A.; Metters, K. M.; Slipetz, D. M. and Grygorczyk, R. (1994) Cloning and expression of a cDNA for the human prostanoid FP receptor. J. Biol. Chem. 269, 2632-2636.
2. Allen, R. C.; Hertzmark, E.; Walker, A. M. and Epstein, D. L. (1986) A double-masked comparison of betaxolol vs timolol in the treatment of open-angle glaucoma. Am. J. Ophthalmol. 101, 535-541.
3. Becker, B. (1965) Intraocular pressure response to topical corticosteroids. Invest. Ophthalmol. 4, 198-205.
4. Becker, B.; Shin, D. H.; Palmberg, P. F.; Waltman, S. R. (1976) HLA antigens and corticosteroid response. Science 194, 1427-1428.
5. Betz, R.; Lagercrantz, J.; Kedra, D.; Dumanski, J. P. and Nordenskjold, A. (1999) Genomic structure, 5′ flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene. Biochem. Biophys. Res. Commun. 254, 413-416.
6. Brubaker, R. F. (2003) Targeting outflow facility in glaucoma management. Surv. Ophthalmol. 48 (Suppl. 1), S17-S20.
7. Camras, C. B.; Hedman, K. and US Latanoprost Study Group. (2003) Rate of response to latanoprost or timolol in patients with ocular hypertension or glaucoma. J. Glaucoma 12, 466-469.
8. Crowston, J. G. and Weinreb, R. N. (2005) Glaucoma medications and aqueous humor dynamics. Curr. Opin. Ophthalmol. 16, 94-100.
9. Fingert, J. H.; Clark, A. F.; Craig, J. E.; Alward, W. L.; Snibson, G. R.; McLaughlin, M.; Tuttle, L.; Mackey, D. A.; Sheffield, V. C. and Stone, E. M. (2001) Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Invest. Ophthalmol. Vis. Sci. 42, 145-52.
10. Fuchsjager-Maryl, G.; Markovic, O.; Losert, D.; Lucas, T.; Wachek, V.; Muller, M. and Schmetterer, L. (2005) Polymorphism of the beta-2 adrenoceptor and IOP lowering potency of topical timolol in healthy subjects. Mol. Vis. 23, 811-815.
11. Gong, G.; Kosoko-Lasaki, S.; Haynatzki, G.; Lynch, H. T.; Lynch, J. A. and Wilson, M. R. (2007) Inherited, familial, and sporadic primary open-angle glaucoma. J. Natl. Med. Assoc. 99, 559-563.
12. Green, S. A.; Cole, G.; Jacinto, M.; Innis, M. and Liggett, S. B. (1993) A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor. J. Biol. Chem. 268, 23116-23121.
13. Green, S. A.; Turki, J.; Innis, M. and Liggett, S. B. (1994) Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry 33, 9414-9419.
14. Higginbotham, E. J.; Schuman, J. S.; Goldberg, I.; Gross, R. L; VanDenburgh, A. M.; Chen, K.; Whitcup, S. M.; for the Bimatoprost Study Groups 1 and 2. (2002) One-year, randomized study comparing bimatoprost and timolol in glaucoma and ocular hypertension. Arch. Ophthalmol. 120, 1286-1293.
15. Hoehe, M. R.; Otterud, B.; Hsieh, W. T.; Martinez, M. M.; Stauffer, D.; Holik, J.; Berrettini, W. H.; Byerley, W. F.; Gershon, E. S. and Lalouel, J. M. (1995) Genetic mapping of adrenergic receptor genes in humans. J. Mol. Med. 73, 299-306.
16. Huizenga, N. A.; Koper, J. W.; De Lange, P.; Pols, H. A.; Stolk, R. P.; Burger, H.; Grobbee, D. E.; Brinkmann, A. O.; De Jong, F. H. and Lamberts, S. W. (1998) A polymorphism in the glucocorticoid receptor gene may be associated with an increased sensitivity to glucocorticoids in vivo. J. Clin. Endocrinol. Metab. 83, 144-151.
17. Ip, M. S.; Gottlieb, J. L.; Kahana, A.; Scott, I. U.; Altaweel, M. M.; Blodi, B. A.; Gangnon, R. E. and Puliafito, C. A. (2004) Intravitreal triamcinolone for the treatment of macular edema associated with central retinal vein occlusion. Arch. Ophthalmol. 122, 1131-1136.
18. Jia, H.; Hingorani, A. D.; Sharma, P.; Hopper, R.; Dickerson, C.; Trutwein, D.; Lloyd, D. D. and Brown, M. J. (1999) Association of the G(s)alpha gene with essential hypertension and response to beta-blockade. Hypertension 34, 8-14.
19. Koper, J. W.; Stolk, R. P.; de Lange, P.; Huizenga, N. A.; Molijn, G. J.; Pols, H. A.; Grobbee, D. E.; Karl, M.; de Jong, F. H.; Brinkman, A. O. and Lamberts, S. W. (1997) Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. Hum. Genet. 99, 663-668.
20. Leske, M. C. (2007) Open-angle glaucoma - an epidemiologic overview. Ophthalmic Epidemiol. 14, 166-172.
21. Levin, M. C.; Marullo, S.; Muntaner, O.; Andersson, B. and Magnusson, Y. (2002) The myocardium-protective Gly-49 variant of the beta 1-adrenergic receptor exhibits constitutive activity and increased desensitization and down-regulation. J. Biol. Chem. 277, 30429-30435.
22. Liggett, S. B. (2000). Pharmacogenomics of beta-1 and beta-2-adrenergic receptors. Pharmacology 61, 167-173.
23. 1-adrenoceptor identification and rapid screening assay. Lancet 353, 897.
24. Martidis, A.; Duker, J. S.; Greenberg, P. B.; Rogers, A. H.; Puliafito, C. A.; Reichel, E. and Baumal, C. (2002) Intravitreal triamcinolone acetonide for refractory diabetic macular edema. Ophthalmology 109, 920-927.
25. 1-adrenergic receptor. J. Biol. Chem. 274, 12670-12674.
26. Materson, B. J.; Reda, D. J.; Cushman, W. C.; Massie, B. M.; Freis, E. D.; Kochar, M. S.; Hamburger, R. J.; Frye, C.; Lakshman, R.; Gottdiener, J.; Ramirez, E. A.; Henderson, W. G. for The Department of Veterans Affairs Cooperative Study Group on Antihypertensive Agents (1993) Single-drug therapy for hypertension in men: a comparison of six antihypertensive agents with placebo. N. Engl. J. Med. 328, 914-921.
27. McGraw, D. W.; Forbes, S. L.; Kramer, L. A. and Liggett, S. B. (1998) Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression. J. Clin. Invest. 102, 1927-1932.
28. McLaren, N. C. and Moroi, S. E. (2003) Clinical implications of pharmacogenomics for glaucoma therapeutics. Pharmacogenomics J. 3, 197-201.
29. Moore, J. D.; Mason, D. A.; Green, S.A.; Hsu, J. and Liggett, S. B. (1999) Racial differences in the frequencies of cardiac beta(1)-adrenergic receptor polymorphisms: analysis of c145A>G and c1165G>C. Hum. Mut. 14, 271.
30. Netland, P. A.; Landry, T.; Sullivan, E. K.; Andrew, R.; Silver, L.; Weiner, A.; Mallick, S.; Dickerson, J.; Bergamini, M. V.; Robertson, S. M.; Davis, A. A. and Travoprost Study Group. (2001) Travoprost compared with latanoprost and timolol in patients with open-angle glaucoma or ocular hypertension. Am. J. Ophthalmol. 132, 472-484.
31. Netland, P. A.; Robertson, S. M.; Sullivan, E. K.; Silver, L.; Bergamini, M. V.; Krueger, S.; Weiner, A. L.; Davis, A. A. and Travoprost Study Groups. (2003) Response to travoprost in black and nonblack patients with open-angle glaucoma or ocular hypertension. Adv. Ther. 20, 149-163.
32. Nieminen, T.; Uusitalo, H.; Maenpaa, J.; Turjanmaa, V.; Rane, A.; Lundrgen, S.; Ropo, A.; Rontu, R.; Lehtimaki, T. and Kahonen, M. (2005) Polymorphisms of genes CY2D6, ADRB1, and GNAS1 in pharmacokinetics and systemic effects of ophthalmic timolol. A pilot study. Eur. J. Clin. Pharmacol. 61, 811-819.
33. Palmberg, P. F.; Mandell, A.; Wilensky, J. T.; Podos, S. M.; and Becker, B. (1975) The reproducibility of the intraocular pressure response to dexamethasone. Am. J. Ophthalmol. 80, 844-856.
34. Parola, A. L. and Kobilka, B. K. (1994) The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis. J. Biol. Chem. 269, 4497-4505.
35. Quigley, H. A. and Broman, A. T. (2006) The number of people with glaucoma worldwide in 2010 and 2020. Br. J. Ophthalmol. 90, 262-267.
36. Racette, L.; Wilson, M. R.; Zangwill, L. M.; Weinreb, R. N. and Sample, P. A. (2003) Primary open-angle glaucoma in blacks: a review. Surv. Ophthalmol. 48, 295-313.
37. Rathz, D. A.; Gregory, K. N.; Fang, Y.; Brown, K. M. and Liggett, S. B. (2003) Hierarchy of polymorphic variation and desensitization permutations relative to beta 1- and beta 2-adrenergic receptor signaling. J. Biol. Chem. 278, 10784-10789.
38. Rozsa, F. W.; Scott, K.; Pawar, H.; Moroi, S. and Richards, J. E. (2008) Effects of timolol on MYOC, OPTN, and WDR36 RNA levels. Arch. Ophthalmol. 126, 86-93.
39. 2α receptor gene and response to latanoprost. Ophthalmology 114, 1039-1045.
40. Scherer, W. J. (2002) A retrospective review of non-responders to latanoprost. J. Ocul. Pharmacol. Ther. 18, 287-291.
41. Schuman, J. S. (2002) Short- and long-term safety of glaucoma drugs. Expert Opin. Drug Saf. 1, 181-94.
42. 1-adrenergic receptor polymorphisms and clinical efficacy of betaxolol hydrochloride in normal volunteers. Ophthalmology 112, 2131-2136.
43. Smithen, L. M.; Ober, M. D.; Maranan, L. and Spaide, R. F. (2004) Intravitreal triamcinolone acetonide and intraocular pressure. Am. J. Ophthalmol. 138, 740-743.
44. Spaide, R. F.; Sorenson, J. and Maranan, L. (2005) Photodynamic therapy with verteporfin combined with intravitreal injection of triamcinolone acetonide for choroidal neovascularization. Ophthalmology 112, 301-304.
45. Stjernschantz, J.; Selen, G.; Sjoquist, B. and Resul, B. (1995) Preclinical pharmacology of latanoprost, a phenyl-substituted PGF2 alpha analogue. Adv. Prostaglandin Thromboxane Leukot. Res. 23, 513-518.
46. Strader, C. D.; Fong, T. M.; Tota, M. R. and Underwood, D. (1994) Structure and function of G protein-coupled receptors. Annu. Rev. Biochem. 63, 101-132.
47. Tissing, W. J.; Meijerink, J. P.; den Boer, M. L.; Binkhof, B.; van Rossum, E. F.; van Wering, E. R.; Koper, J. W.; Sonneveld, P. and Pieters, R. (2005) Genetic variations in the glucocorticoid receptor gene are not related to glucocorticoid resistance in childhood acute lymphoblastic leukemia. Clin. Cancer Res. 11, 6050-6056.
48. van Rossum, E. F.; Koper, J. W.; Huizenga, N. A.; Uitterlinden, A. G.; Janssen, J. A.; Brinkmann, A. O.; Grobbee, D. E.; de Jong, F. H.; van Duyn, C. M.; Pols, H. A. and Lamberts, S. W. (2002) A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels. Diabetes 51, 3128-3134.
49. van Rossum, E. F.; Koper, J. W.; van den Beld, A. W.; Uitterlinden, A. G.; Arp, P.; Ester, W.; Janssen, J. A.; Brinkmann, A. O.; de Jong, F. H.; Grobbee, D. E.; Pols, H. A.; Lamberts, S. W. (2003) Identification of the BclI polymorphism in the glucocorticoid receptor gene: association with sensitivity to glucocorticoids in vivo and body mass index. Clin. Endocrinol. 59, 585-592.
50. Vogel, R.; Crick, R. P.; Newson, R. B.; Shipley, M.; Blackmore, H. and Bulpitt, C. J. (1990) Association between intraocular pressure and loss of visual field in chronic simple glaucoma. Br. J. Ophthalmol. 74 3-6.
51. Wax, M. B. and Molinoff, P. B. (1987) Distribution and properties of beta-adrenergic receptors in the human iris-ciliary body. Invest. Ophthalmol. Vis. Sci. 28, 420-430.
52. Weinreb, R. N.; Bloom, E.; Baxter, J. D.; Alvarado, J.; Lan, N.; O'Donnell, J. and Polansky, J. R. (1981) Detection of glucocorticoid receptors in cultured human trabecular cells. Invest. Ophthalmol. Vis. Sci. 21, 403-407.
53. Wu, J.; Hewitt, A. W.; Green, C. M.; Ring, M. A.; McCartney, P. J.; Craig, J. E. and Mackey, D. A. (2006) Disease severity of familial glaucoma compared with sporadic glaucoma. Arch. Ophthalmol. 124, 950-954.