Progress toward personalized medicine for glaucoma

Expert Review of Ophthalmology

Volumn 4, Issue 2, 2009, Pages 145-161

  Moroi, Sayoko E ^a   Raoof, Duna A ^a   Reed, David M ^a   Zöllner, Sebastian ^b,c   Qin, Zhaohui ^b   Richards, Julia E ^a,d  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN SCHOOL OF PUBLIC HEALTH   (United States)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Aqueous humor dynamics; Genetics; Glaucoma; Intraocular pressure; Personalized medicine; Pharmacogenetics; Pharmacogenomics

Indexed keywords

ALPHA 2 ADRENERGIC RECEPTOR STIMULATING AGENT; ANTIFIBROTIC AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARBONATE DEHYDRATASE INHIBITOR; FLUOROURACIL; MIOTIC AGENT; MITOMYCIN C; MUSCARINIC AGENT; PROSTAGLANDIN RECEPTOR STIMULATING AGENT; TIMOLOL;

ADJUVANT THERAPY; AQUEOUS HUMOR FLOW; ARTICLE; BEHAVIOR MODIFICATION; BLINDNESS; CLINICAL TRIAL; DISEASE MARKER; DISEASE MODEL; DRUG ABSORPTION; DRUG BLOOD LEVEL; DRUG DISTRIBUTION; DRUG MECHANISM; DRUG METABOLISM; DRUG PROTEIN BINDING; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE INTERACTION; GENE TECHNOLOGY; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC PRIVACY; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; GLAUCOMA; GLAUCOMA SURGERY; HEALTH BEHAVIOR; HUMAN; INDIVIDUALIZATION; INTRAOCULAR PRESSURE; LAW; MONOGENIC DISORDER; PHARMACOGENETICS; PHARMACOGENOMICS; PREVALENCE; RISK ASSESSMENT; TREATMENT OUTCOME; UNSPECIFIED SIDE EFFECT;

EID: 69949145915     PISSN: 17469899     EISSN: 17469902     Source Type: Journal    
DOI: 10.1586/eop.09.6     Document Type: Article

References (98)

1. Jonas JB, Dichtl A. Evaluation of the retinal nerve fiber layer. surv. Ophthalmol. 40(5), 369-378 (1996).
2. Weinreb RN, Friedman DS, Fechtner RD et al. Risk assessment in the management of patients with ocular hypertension. Am. J. Ophthalmol. 138(3), 458-467 (2004).
3. Venter JC, Adams MD, Myers EW et al. The sequence of the human genome. Science 291(5507), 1304-1351 (2001).
4. Lander ES, Linton LM, Birren B et al. Initial sequencing and analysis of the human genome. Nature 409(6822), 860-921 (2001).
5. Clamp M, Fry B, Kamal M et al. Distinguishing protein-coding and noncoding genes in the human genome. Proc. Natl Acad. Sci. USA 104(49), 19428-19433 (2007).
6. Consortium TIH. The International HapMap Project. Nature 426(6968), 789-796 (2003).
7. Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat. Genet. 33(Suppl.), 228-237 (2003).
8. Kingsmore SF, Lindquist IE, Mudge J, Gessler DD, Beavis WD. Genome-wide association studies: progress and potential for drug discovery and development. Nat. Rev. Drug. Discov. 7(3), 221-230 (2008).
9. Haines JL, Hauser MA, Schmidt S et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 308(5720), 419-421 (2005).
10. Klein RJ, Zeiss C, Chew EY et al. Complement factor H polymorphism in age-related macular degeneration. Science 308(5720), 385-389 (2005).
11. Thorleifsson G, Magnusson KP, Sulem P et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 317(5843), 1397-1400 (2007).
12. McLaren NC, Moroi SE. Clinical implications of pharmacogenetics for glaucoma therapeutics. Pharmacogenomics J. 3, 197-201 (2003).
13. Benichou J. Biostatistics and epidemiology: measuring the risk attributable to an environmental or genetic factor. C. R. Biol. 330(4), 281-298 (2007).
14. Racette L, Wilson MR, Zangwill LM, Weinreb RN, Sample PA. Primary open-angle glaucoma in blacks: a review. Surv. Ophthalmol. 48(3), 295-313 (2003).
15. Varma R, Mohanty SA, Deneen J, Wu J, Azen SP. Burden and predictors of undetected eye disease in Mexican-Americans: the Los Angeles Latino Eye Study. Med. Care 46(5), 497-506 (2008).
16. Hunter DJ, Khoury MJ, Drazen JM. Letting the genome out of the bottle - will we get our wish? N. Engl. J. Med. 358(2), 105-107 (2008).
17. Geransar R, Einsiedel E. Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware? Genet. Test. 12(1), 13-23 (2008).
18. Feero WG, Guttmacher AE, Collins FS. The genome gets personal - almost. JAMA 299(11), 1351-1352 (2008).
19. Moroi SE, Richards JE. Glaucoma and genomic medicine. Glaucoma Today 1, 16-24 (2008).
20. Wiggs JL. Genetic etiologies of glaucoma. Arch. Ophthalmol. 125(1), 30-37 (2007).
21. Nemesure B, Jiao X, He Q et al. A genomewide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. Hum. Genet. 112(5-6), 600-609 (2003).
22. Vincent AL, Billingsley G, Buys Y et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am. J. Hum. Genet. 70(2), 448-460 (2002).
23. Wiggs JL, Allingham RR, Hossain A et al. Genome-wide scan for adult onset primary open angle glaucoma. Hum. Mol. Genet. 9(7), 1109-1117 (2000).
24. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet. 6(4), 641-647 (1997).
25. Nouri-Mahdavi K, Hoffman D, Coleman AL et al. Predictive factors for glaucomatous visual field progression in the Advanced Glaucoma Intervention Study. Ophthalmology 111(9), 1627-1635 (2004).
26. Lichter PR, Musch DC, Gillespie BW et al. Interim clinical outcomes in the Collaborative Initial Glaucoma Treatment Study comparing initial treatment randomized to medications or surgery. Ophthalmology 108(11), 1943-1953 (2001).
27. Drance S, Anderson DR, Schulzer M; Collaborative Normal-Tension Glaucoma Study Group. Risk factors for progression of visual field abnormalities in normaltension glaucoma. Am. J. Ophthalmol. 131(6), 699-708 (2001).
28. Heijl A, Leske MC, Bengtsson B et al. Reduction of intraocular pressure and glaucoma progression: results from the Early Manifest Glaucoma Trial. Arch. Ophthalmol. 120(10), 1268-1279 (2002).
29. Glaucoma Laser Trial Research Group. The Glaucoma Laser Trial (GLT) and glaucoma laser trial follow-up study: 7. Results. Am. J. Ophthalmol. 120(6), 718-731 (1995).
30. Kass MA, Heuer DK, Higginbotham EJ et al. The Ocular Hypertension Treatment Study: a randomized trial determines that topical ocular hypotensive medication delays or prevents the onset of primary openangle glaucoma. Arch. Ophthalmol. 120(6), 701-713; discussion 829-730 (2002).
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. 120(6), 714-720; discussion 829-730 (2002).
32. Iyengar SK. The quest for genes causing complex traits in ocular medicine: successes, interpretations, and challenges. Arch. Ophthalmol. 125(1), 11-18 (2007).
33. Viswanathan AC, Hitchings RA, Indar A et al. Commingling analysis of intraocular pressure and glaucoma in an older Australian population. Ann. Hum. Genet. 68(Pt 5), 489-497 (2004).
34. Bonomi L, Marchini G, Marraffa M et al. Prevalence of glaucoma and intraocular pressure distribution in a defined population. The Egna-Neumarkt Study. Ophthalmology 105(2), 209-215 (1998).
35. Nemesure B, Honkanen R, Hennis A, Wu SY, Leske MC. Incident open-angle glaucoma and intraocular pressure. Ophthalmology 114(10), 1810-1815 (2007).
36. Herndon LW. Measuring intraocular pressure-adjustments for corneal thickness and new technologies. Curr. Opin. Ophthalmol. 17(2), 115-119 (2006).
37. Sarkisian SR Jr. An update on tonometry. Glaucoma Today 4(6), 31-36 (2006).
38. Armaly MF. The genetic determination of ocular pressure in the normal eye. Arch. Ophthalmol. 78(2), 187-192 (1967).
39. Levene RZ, Workman PL, Broder SW, Hirschhorn K. Heritability of ocular pressure in normal and suspect ranges. Arch. Ophthalmol. 84(6), 730-734 (1970).
40. Kalenak JW, Paydar F. Correlation of intraocular pressures in pairs of monozygotic and dizygotic twins. Ophthalmology 102(10), 1559-1564 (1995).
41. Gottfredsdottir MS, Sverrisson T, Musch DC, Stefansson E. Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. J. Glaucoma 8(2), 134-139 (1999).
42. Chang TC, Congdon NG, Wojciechowski R et al. Determinants and heritability of intraocular pressure and cup-to-disc ratio in a defined older population. Ophthalmology 112(7), 1186-1191 (2005).
43. van Koolwijk LM, Despriet DD, van Duijn CM et al. Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. Invest. Ophthalmol. Vis. Sci. 48(8), 3669-3676 (2007).
44. Klein BE, Klein R, Lee KE. Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. Invest. Ophthalmol. Vis. Sci. 45(1), 59-62 (2004).
45. Parssinen O, Era P, Tolvanen A, Kaprio J, Koskenvuo M, Rantanen T. Heritability of intraocular pressure in older female twins. Ophthalmology 114(12), 2227-2231 (2007).
46. 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. 125(1), 74-79 (2007).
47. Rotimi CN, Chen G, Adeyemo AA et al. Genomewide scan and fine mapping of quantitative trait loci for intraocular pressure on 5q and 14q in West Africans. Invest. Ophthalmol. Vis. Sci. 47(8), 3262-3267 (2006).
48. 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. 14(6), 725-733 (2005).
49. 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. 46(10), 3723-3729 (2005).
50. Brubaker RF. Goldmann's equation and clinical measures of aqueous dynamics. Exp. Eye Res. 78(3), 633-637 (2004).
51. Brubaker RF. Clinical measurements of aqueous dynamics: implications for addressing glaucoma. In: The Eye's Aqueous Humor, From Secretion to Glaucoma. Civan MM (Ed.). Academic Press, NY, USA, 234-284 (1998).
52. Toris CB, Koepsell SA, Yablonski ME, Camras CB. Aqueous humor dynamics in ocular hypertensive patients. J. Glaucoma. 11(3), 253-258 (2002).
53. Grant W. Tonographic method for measuring the facility and rate of aqueous flow in human eyes. Arch. Ophthalmol. 44, 204-214 (1950).
54. Selbach JM, Posielek K, Steuhl KP, Kremmer S. Episcleral venous pressure in untreated primary open-angle and normal-tension glaucoma. Ophthalmologica 219(6), 357-361 (2005).
55. Orzalesi N, Rossetti L, Bottoli A, Fogagnolo P. Comparison of the effects of latanoprost, travoprost, and bimatoprost on circadian intraocular pressure in patients with glaucoma or ocular hypertension. Ophthalmology 113(2), 239-246 (2006).
56. Walters TR, DuBiner HB, Carpenter SP, Khan B, VanDenburgh AM. 24-hour IOP control with once-daily bimatoprost, timolol gel-forming solution, or latanoprost: a 1-month, randomized, comparative clinical trial. Surv. Ophthalmol. 49 (Suppl. 1), S26-S35 (2004).
57. Camras CB, Sheu WP. Latanoprost or brimonidine as treatment for elevated intraocular pressure: multicenter trial in the United States. J. Glaucoma. 14(2), 161-167 (2005).
58. Schuman JS. Effects of systemic β-blocker therapy on the efficacy and safety of topical brimonidine and timolol. Brimonidine Study Groups 1 and 2. Ophthalmology 107(6), 1171-1177 (2000).
59. Orzalesi N, Rossetti L, Bottoli A, Fumagalli E, Fogagnolo P. The effect of latanoprost, brimonidine, and a fixed combination of timolol and dorzolamide on circadian intraocular pressure in patients with glaucoma or ocular hypertension. Arch. Ophthalmol. 121(4), 453-457 (2003).
60. Azuara-Blanco A, Burr J. The rising cost of glaucoma drugs. Br. J. Ophthalmol. 90(2), 130-131 (2006).
61. Holmstrom S, Buchholz P, Walt J, Wickstrom J, Aagren M. The cost-effectiveness of bimatoprost, latanoprost and timolol in treatment of primary open angle glaucoma in five European countries. Curr. Med. Res. Opin. 22(5), 897-905 (2006).
62. Friedman DS, Quigley HA, Gelb L et al. Using pharmacy claims data to study adherence to glaucoma medications: methodology and findings of the Glaucoma Adherence and Persistency Study (GAPS). Invest. Ophthalmol. Vis. Sci. 48(11), 5052-5057 (2007).
63. Sleath B, Robin AL, Covert D, Byrd JE, Tudor G, Svarstad B. Patient-reported behavior and problems in using glaucoma medications. Ophthalmology 113(3), 431-436 (2006).
64. Schmitt CJ, Lotti VJ, LeDouarec JC. Penetration of timolol into the rabbit eye. Measurements after ocular instillation and intravenous injection. Arch. Ophthalmol. 98(3), 547-551 (1980).
65. Salminen L, Imre G, Huupponen R. The effect of ocular pigmentation on intraocular pressure response to timolol. Acta. Ophthalmol. Suppl. 173, 15-18 (1985).
66. Higginbotham EJ, Schuman JS, Goldberg I et al. One-year, randomized study comparing bimatoprost and timolol in glaucoma and ocular hypertension. Arch. Ophthalmol. 120(10), 1286-1293 (2002).
67. Salazar M, Shimada K, Patil PN. Iris pigmentation and atropine mydriasis. J. Pharmacol. Exp. Ther. 197(1), 79-88 (1976).
68. Mansberger SL, Hughes BA, Gordon MO et al. Comparison of initial intraocular pressure response with topical β-adrenergic antagonists and prostaglandin analogues in African American and white individuals in the Ocular Hypertension Treatment Study. Arch. Ophthalmol. 125(4), 454-459 (2007).
69. Shin J, Johnson JA. Pharmacogenetics of β-blockers. Pharmacotherapy 27(6), 874-887 (2007).
70. Edeki TI, He H, Wood AJ. Pharmacogenetic explanation for excessive β-blockade following timolol eye drops. Potential for oral-ophthalmic drug interaction. JAMA 274(20), 1611-1613 (1995).
71. Coakes RL, Brubaker RF. The mechanism of timolol in lowering intraocular pressure in the normal eye. Arch. Ophthalmol. 96(11), 2045-2048 (1978).
72. Yablonski ME, Zimmerman TJ, Waltman SR, Becker B. A fluorophotometric study of the effect of topical timolol on aqueous humor dynamics. Exp. Eye Res. 27(2), 135-142 (1978).
73. Wax MB, Molinoff PB. Distribution and properties of β-adrenergic receptors in human iris-ciliary body. Invest. Ophthalmol. Vis. Sci. 28(3), 420-430 (1987).
74. Nathanson JA. Adrenergic regulation of intraocular pressure: identification of β2-adrenergic-stimulated adenylate cyclase in ciliary process epithelium. Proc. Natl Acad. Sci. USA 77(12), 7420-7424 (1980).
75. Belfer I, Buzas B, Evans C et al. Haplotype structure of the β adrenergic receptor genes in US Caucasians and African Americans. Eur. J. Hum. Genet. 13(3), 341-351 (2005).
76. McCarty CA, Burmester JK, Mukesh BN, Patchett RB, Wilke RA. Intraocular pressure response to topical β-blockers associated with an ADRB2 singlenucleotide polymorphism. Arch. Ophthalmol. 126(7), 959-963 (2008).
77. Inagaki Y, Mashima Y, Fuse N et al. Polymorphism of β-adrenergic receptors and susceptibility to open-angle glaucoma. Mol. Vis. 12, 673-680 (2006).
78. McLaren N, Reed DM, Musch DC et al. Evaluation of the β2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations. Arch. Ophthalmol. 125(1), 105-111 (2007).
79. Gungor K, Ozkur M, Cascorbi I et al. β2-adrenergic receptor polymorphism and susceptibility to primary congenital and primary open angle glaucoma. Eur. J. Clin. Pharmacol. 59(7), 527-531 (2003).
80. Gungor K, Beydagi H, Bekir N et al. The impact of acute dynamic exercise on intraocular pressure: role of the β2-adrenergic receptor polymorphism. J. Int. Med. Res. 30(1), 26-33 (2002).
81. Fuchsjager-Mayrl G, Markovic O, Losert D et al. Polymorphism of the β-2 adrenoceptor and IOP lowering potency of topical timolol in healthy subjects. Mol. Vis. 11, 811-815 (2005).
82. Schwartz SG, Puckett BJ, Allen RC, Castillo IG, Leffler CT. β1-adrenergic receptor polymorphisms and clinical efficacy of Betaxolol hydrochloride in normal volunteers. Ophthalmology 112(12), 2131-2136 (2005).
83. Dane S, Kocer I, Demirel H, Ucok K, Tan U. Long-term effects of mild exercise on intraocular pressure in athletes and sedentary subjects. Int. J. Neurosci. 116(10), 1207-1214 (2006).
84. Musch DC, Gillespie BW, Niziol LM, Cashwell LF, Lichter PR. Factors associated with intraocular pressure before and during 9 years of treatment in the Collaborative Initial Glaucoma Treatment Study. Ophthalmology 115(6), 927-933 (2008).
85. Kang JH, Pasquale LR, Willett W et al. Antioxidant intake and primary open-angle glaucoma: a prospective study. Am. J. Epidemiol. 158(4), 337-346 (2003).
86. Kang JH, Pasquale LR, Rosner BA et al. Prospective study of cigarette smoking and the risk of primary open-angle glaucoma. Arch. Ophthalmol. 121(12), 1762-1768 (2003).
87. Kang JH, Pasquale LR, Willett WC et al. Dietary fat consumption and primary open-angle glaucoma. Am. J. Clin. Nutr. 79(5), 755-764 (2004).
88. Wang C, Bowen DJ, Kardia SL. Research and practice opportunities at the intersection of health education, health behavior, and genomics. Health Educ. Behav. 32(5), 686-701 (2005).
89. Hudson KL, Holohan MK, Collins FS. Keeping pace with the times- the Genetic Information Nondiscrimination Act of 2008. N. Engl. J. Med. 358(25), 2661-2663 (2008).
90. Schwarz UI, Ritchie MD, Bradford Y et al. Genetic determinants of response to warfarin during initial anticoagulation. N. Engl. J. Med. 358(10), 999-1008 (2008).
91. Flockhart DA, O'Kane D, Williams MS et al. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet. Med. 10(2), 139-150 (2008).
92. Bruno C, Fisher G, Moroi S. Is 'scarless wound healing' applicable to glaucoma surgery? Expert. Rev. Ophthalmol. 2(1), 79-90 (2007).
93. Drummond MF, Schwartz JS, Jonsson B et al. Key principles for the improved conduct of health technology assessments for resource allocation decisions. Int. J. Technol. Assess. Health. Care. 24(3), 244-258; discussion 362-248 (2008).
94. Tunis SR, Pearson SD. Coverage options for promising technologies: Medicare's 'coverage with evidence development'. Health Aff. (Millwood) 25(5), 1218-1230 (2006).
95. Zhao YY, Takahashi M, Gu JG et al. Functional roles of N-glycans in cell signaling and cell adhesion in cancer. Cancer Sci. 99(7), 1304-1310 (2008).
96. Rabut G, Peter M. Function and regulation of protein neddylation. 'Protein Modifications: Beyond the Usual Suspects' Review Series. EMBO Rep. (2008).
97. Meinnel T, Giglione C. Protein lipidation meets proteomics. Front. Biosci. 13, 6326-6340 (2008).
98. Hyder CL, Pallari HM, Kochin V, Eriksson JE. Providing cellular signposts - post-translational modifications of intermediate filaments. FEBS Lett. 582(14), 2140-2148 (2008).